Affinage

CAPN1

Calpain-1 catalytic subunit · UniProt P07384

Round 2 corrected
Length
714 aa
Mass
81.9 kDa
Annotated
2026-04-28
130 papers in source corpus 32 papers cited in narrative 31 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CAPN1 (calpain-1/µ-calpain catalytic subunit) is a Ca²⁺-activated cysteine protease that functions as a heterodimer with a shared 28-kDa small subunit (CAPNS1) and cleaves a broad range of intracellular substrates to regulate neuronal survival, apoptosis, autophagy, and signal transduction. Ca²⁺ binding to EF-hand domains in both subunits triggers heterodimer dissociation, releasing the active 80-kDa large subunit, which undergoes limited N-terminal autolysis to lower its Ca²⁺ requirement from millimolar to micromolar concentrations; membrane phospholipids (phosphatidylinositol, phosphatidylserine) and specific gangliosides further reduce this threshold (PMID:6270080, PMID:3023314, PMID:8561910, PMID:2331482, PMID:2182778). CAPN1 proteolytically processes substrates including p35 (generating the CDK5-hyperactivating p25 fragment implicated in tauopathy), PHLPP1 (enabling Akt-dependent neuroprotection), AIF (triggering necrotic DNA fragmentation), Bcl-2/Bid (activating intrinsic apoptosis), Beclin-1/ATG5 (switching autophagy to apoptosis), NF1/neurofibromin (sustaining RAS-AKT signaling in cancer), TFEB (suppressing the autophagy–lysosome pathway), and Dicer (generating an active RNase III fragment that modulates miRNA levels) (PMID:10830966, PMID:27320912, PMID:15590628, PMID:12000759, PMID:16998475, PMID:33874744, PMID:30131853, PMID:40081346, PMID:34286311). CAPN1-knockout mice develop cerebellar ataxia with granule-cell apoptosis rescuable by concomitant PHLPP1 deletion, and loss-of-function variants in CD99L2, a newly identified CAPN1-activating transmembrane interactor, cause X-linked spastic ataxia (PMID:27320912, PMID:41690933).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 1981 High

    The question of how CAPN1 achieves physiological activation despite its millimolar Ca²⁺ requirement was answered by the discovery that limited N-terminal autolysis of the large subunit converts the enzyme to a micromolar-Ca²⁺-requiring form, establishing autolysis as a key activation step.

    Evidence In vitro autolysis assay with purified CANP, activity measurement at graded Ca²⁺

    PMID:6270080

    Open questions at the time
    • Autolysis sites on the large subunit were not yet mapped
    • Whether autolysis occurs in intact cells was unknown
  2. 1983 High

    Identification of the catalytic mechanism was achieved by stoichiometric covalent labeling of a single active-site cysteine with E-64c and iodoacetate, definitively classifying CAPN1 as a cysteine protease.

    Evidence SH-group titration and competitive covalent inhibitor incorporation at 1:1 stoichiometry

    PMID:6309757

    Open questions at the time
    • Three-dimensional structure of the active site was unknown
    • Catalytic residue identity awaited sequencing
  3. 1984 High

    The biochemical distinctness of µ-calpain (CAPN1) and m-calpain was established through differences in amino-acid composition, peptide maps, thiol accessibility, and substrate specificity, resolving ambiguity about whether they were the same enzyme.

    Evidence Concurrent purification, V8 peptide mapping, SH titration, substrate cleavage comparison

    PMID:6088474

    Open questions at the time
    • Gene-level identity of the two isoforms was not yet determined
  4. 1986 High

    The structural basis of Ca²⁺ sensing was established: EF-hand domains in both subunits bind Ca²⁺, the large-subunit EF-hand Ca²⁺ affinity determines activation threshold, and hybrid reconstitution proved that autolysis of the large subunit alone governs Ca²⁺ sensitivity; membrane lipids (phosphatidylinositol) further reduce the Ca²⁺ requirement via the small subunit's N-terminal hydrophobic domain.

    Evidence Recombinant EF-hand domain Ca²⁺-binding assay, hybrid subunit reconstitution, PI-dependent autolysis assay with domain-truncated small subunit

    PMID:3011770 PMID:3023314 PMID:3038855

    Open questions at the time
    • Precise stoichiometry of Ca²⁺ binding per EF-hand was approximate
    • In vivo membrane-translocation kinetics were unknown
  5. 1986 High

    CAPN1's neuronal function was first demonstrated: axonal CAPN1 rapidly degrades high-MW cytoskeletal proteins including fodrin, with 6-fold higher activity in neurons than glia, establishing CAPN1 as a major neuronal cytoskeletal remodeling enzyme.

    Evidence Intact retinal axon segment incubation at defined Ca²⁺, SDS-PAGE quantification, neuron vs. glia fractionation

    PMID:3012011 PMID:3012012

    Open questions at the time
    • Specific neuronal substrates beyond fodrin were unidentified
    • In vivo activation signals in neurons were unknown
  6. 1987 High

    The requirement of C-terminal EF-hand structures for heterodimer assembly was demonstrated: removal of 8–10 C-terminal residues from either subunit abolishes complex formation and activity, explaining how the penta-EF-hand domain mediates obligate dimerization.

    Evidence Carboxypeptidase Y digestion under denaturing conditions, subunit reassociation and activity assay

    PMID:3034871

    Open questions at the time
    • Atomic-resolution contacts at the dimerization interface were unknown
  7. 1990 High

    The lipid-activation landscape was broadened beyond phospholipids: specific gangliosides (GD1a, GT1a, GM1) reduce CAPN1 Ca²⁺ requirement 10–50-fold through a pathway distinct from phospholipid-mediated activation, while GD1b is inhibitory, revealing structure-specific glycolipid regulation.

    Evidence Purified enzyme with defined ganglioside species, azocasein assay, trifluoperazine insensitivity

    PMID:2182778 PMID:2331482

    Open questions at the time
    • Ganglioside-binding site on calpain was unmapped
    • Physiological relevance at endogenous ganglioside concentrations was untested
  8. 1995 High

    The activation mechanism was refined: Ca²⁺ causes dissociation of the CAPN1 heterodimer, and the free 80-kDa large subunit is the active catalytic species, establishing subunit dissociation as the proximal activation event.

    Evidence Biochemical dissociation/reassociation, activity assay of isolated subunits

    PMID:8561910

    Open questions at the time
    • Whether dissociation is reversible in vivo was unclear
    • Fate of the released small subunit was unknown
  9. 2000 High

    The first disease-relevant substrate was identified: calpain cleaves the CDK5 activator p35 to p25, causing CDK5 mislocalization and prolonged activation leading to tau hyperphosphorylation, directly linking CAPN1 to Alzheimer's-related neurodegeneration.

    Evidence Primary cortical neurons with Ca²⁺ ionophore/excitotoxin, calpain inhibitor pharmacology, in vitro cleavage of recombinant p35

    PMID:10830966

    Open questions at the time
    • Which calpain isoform (µ vs. m) is dominant in vivo for p35 cleavage was unresolved
    • Therapeutic window for calpain inhibition in neurodegeneration was undefined
  10. 2002 High

    CAPN1 was placed at a decision point between survival and apoptosis: calpain cleaves Bcl-2, Bid, and Bcl-xL at single N-terminal sites, and the truncated products trigger mitochondrial cytochrome c release, establishing calpain as a direct activator of the intrinsic apoptotic pathway.

    Evidence In vitro calpain cleavage of recombinant Bcl-2 family members, isolated mitochondria cytochrome c release assay

    PMID:12000759

    Open questions at the time
    • Relative contribution of calpain vs. caspase-8 in Bid cleavage under physiological conditions was unclear
  11. 2004 High

    Calpain-1 was shown to process AIF near its N-terminus, releasing it from mitochondria to trigger caspase-independent necrotic DNA fragmentation — extending calpain's role beyond apoptosis to necrosis.

    Evidence In vitro CAPN1 cleavage of recombinant AIF, isolated mitochondria release assay with tBid permeabilization, calpeptin inhibition

    PMID:15590628

    Open questions at the time
    • Whether mitochondrial calpain is CAPN1 specifically or another isoform was not definitively resolved
  12. 2006 High

    The autophagy-to-apoptosis switch mechanism was identified: calpain cleaves ATG5 to generate a 24-kDa fragment that translocates to mitochondria, binds Bcl-xL, and triggers cytochrome c release, explaining how calpain activation terminates protective autophagy.

    Evidence In vitro cleavage, subcellular fractionation, Co-IP of truncated ATG5 with Bcl-xL, siRNA epistasis, xenograft model

    PMID:16998475

    Open questions at the time
    • ATG5 cleavage site was not mapped at single-residue resolution
    • Isoform specificity for ATG5 cleavage was not determined
  13. 2016 High

    CAPN1 was established as essential for cerebellar development and neuronal survival: CAPN1-KO mice exhibit cerebellar ataxia due to granule cell apoptosis from failure to cleave PHLPP1, blocking Akt signaling; double-KO with PHLPP1 rescues the phenotype, placing CAPN1 in a defined neuroprotective PHLPP1–Akt axis.

    Evidence CAPN1-KO and CAPN1/PHLPP1 double-KO mice, bisperoxovanadium rescue, cerebellar histology, behavioral motor testing

    PMID:27320912

    Open questions at the time
    • Whether additional calpain-1 substrates contribute to the ataxia phenotype was unknown
    • Human ataxia patients with CAPN1 loss-of-function were not yet characterized in this study
  14. 2018 Medium

    CAPN1's oncogenic role was defined: CAPN1 degrades the tumor suppressor NF1, sustaining RAS-AKT signaling and promoting melanoma cell growth — the first demonstration of CAPN1 as a targetable protease in RAS-driven cancer.

    Evidence Mass spectrometry of NF1 interactors, shRNA knockdown, calpain inhibitor, protein stability assay in melanoma cells

    PMID:30131853

    Open questions at the time
    • NF1 cleavage site by CAPN1 was not mapped
    • Selectivity for CAPN1 vs. CAPN2 in NF1 degradation was not tested
    • Awaits independent replication
  15. 2021 High

    Multiple studies converged to demonstrate CAPN1's pathological roles in ischemia and cardiomyopathy: CAPN1 cleaves BECN1/ATG5 and permeabilizes lysosomes during cerebral ischemia, while in arrhythmogenic cardiomyopathy CAPN1 associates with mitochondria and cleaves AIF to trigger necrosis — both rescuable by CAPN1 inhibition or calpastatin overexpression.

    Evidence Rat MCAO model with AAV-CAPN1 KD, Dsg2 mutant mouse model, stem cell-derived cardiomyocytes, calpastatin overexpression, pharmacological inhibition

    PMID:33597260 PMID:33874744

    Open questions at the time
    • Relative contribution of CAPN1 vs. CAPN2 in ischemic AIF cleavage was not resolved
    • Whether calpastatin gene therapy is viable in clinical settings was untested
  16. 2021 Medium

    CAPN1's role was extended to RNA regulation: CAPN1 cleaves Dicer near its active site in brain, generating an active RNase III fragment that sustains neurodegeneration-related miRNA biogenesis; CAPN1-KO mice show reduced active Dicer and altered miRNA profiles.

    Evidence CAPN1-KO mouse brain, in vitro calpain-1 + Ca²⁺ rescue of Dicer activity, miRNA profiling

    PMID:34286311

    Open questions at the time
    • Cleavage site on Dicer was not precisely mapped
    • Which specific miRNAs are functionally rate-limited by CAPN1-Dicer processing was not resolved
    • Single-lab finding
  17. 2025 Medium

    CAPN1 was linked to innate immunity and autophagy suppression: CAPN1 interacts with and prevents nuclear translocation of TFEB during Pseudomonas infection, suppressing the autophagy-lysosome pathway; CAPN1-deficient mice restore autolysosome formation.

    Evidence Co-IP and pull-down of CAPN1–TFEB, CAPN1-KO mouse infection model, immunofluorescence for TFEB localization

    PMID:40081346

    Open questions at the time
    • Whether CAPN1 cleaves TFEB or sequesters it was not distinguished
    • Generalizability to other bacterial infections was untested
  18. 2025 Medium

    NF1 degradation by CAPN1 was independently replicated in medullary thyroid cancer, and CD99L2 was identified as a transmembrane activating partner of CAPN1 whose loss-of-function causes X-linked spastic ataxia, establishing the first genetically defined upstream regulator of CAPN1 activation.

    Evidence Xenograft models with CAPN1 inhibitors (MTC); exome sequencing, Co-IP, domain-deletion constructs for CD99L2–CAPN1 interaction

    PMID:39868924 PMID:41690933

    Open questions at the time
    • Mechanism by which CD99L2 activates CAPN1 (Ca²⁺-independent? conformational?) is unknown
    • Whether CD99L2 loss phenocopies CAPN1 KO at the molecular substrate level was not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: the structural basis of isoform-specific substrate recognition, the full in vivo substrate repertoire of CAPN1 versus CAPN2, the mechanism by which CD99L2 activates CAPN1, and whether therapeutic calpain-1 inhibition can selectively target pathological cleavage events without disrupting neuroprotective PHLPP1 processing.
  • No co-crystal structure of CAPN1 with a substrate or CD99L2
  • Isoform-selective inhibitors have not been characterized in clinical studies
  • Relative in vivo contributions of CAPN1 vs. CAPN2 for shared substrates remain unmapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 8 GO:0016787 hydrolase activity 4
Localization
GO:0005739 mitochondrion 2 GO:0005829 cytosol 2
Pathway
R-HSA-392499 Metabolism of proteins 4 R-HSA-5357801 Programmed Cell Death 4 R-HSA-112316 Neuronal System 3 R-HSA-162582 Signal Transduction 3 R-HSA-9612973 Autophagy 3
Complex memberships
µ-calpain heterodimer (CAPN1/CAPNS1)

Evidence

Reading pass · 31 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1981 Limited autolysis of Ca2+-activated neutral protease (CANP/CAPN1) in the presence of Ca2+ converts the mM-Ca2+-requiring form (m-CANP) to a µM-Ca2+-requiring form (µ-CANP), demonstrating that autoproteolysis of the large subunit lowers Ca2+ sensitivity. Casein-Sepharose affinity chromatography, in vitro autolysis assay, enzymatic activity measurement Journal of biochemistry High 6270080
1983 The active-site cysteine of CANP (CAPN1) is a class-II SH group exposed upon Ca2+ addition; E-64c and iodoacetate each incorporate stoichiometrically (1 mol/mol) into this residue, identifying it as the catalytic thiol and defining the cysteine-protease mechanism. In vitro covalent labeling with E-64c and iodoacetate, SH group titration, competitive inhibition assay Journal of biochemistry High 6309757
1984 µ-CANP (CAPN1) and m-CANP are biochemically distinct isoforms with different large subunit amino-acid compositions and peptide maps, different thiol-group accessibility (CAPN1 active-site thiol is exposed without Ca2+, unlike m-CANP), and different substrate specificities and cleavage products, supporting their independent identities. Concurrent purification, amino acid composition, V8 protease peptide mapping, SH group titration, substrate cleavage assays Journal of biochemistry High 6088474
1985 During substrate hydrolysis, µ-CANP (CAPN1) undergoes restricted autodigestion of its large subunit (80 kDa → 77 kDa → 76 kDa), and this limited autolysis increases its Ca2+ sensitivity, suggesting autolysis is a necessary activation step; the small subunit is degraded early but does not affect Ca2+ sensitivity. In vitro protease assay with endogenous substrates, SDS-PAGE analysis of autolysis products, Ca2+-sensitivity measurement Journal of biochemistry High 2999095
1986 Autolysis of CANP (CAPN1) lowers Ca2+ requirements via NH2-terminal processing of the 80 kDa large subunit; hybrid reconstitution experiments show Ca2+ sensitivity is determined solely by the structural state of the large subunit—autolysis of the small subunit has no effect on Ca2+ requirement. Limited autolysis, subunit dissociation/reconstitution, hybrid enzyme assembly, enzymatic activity assay Journal of biochemistry High 3023314
1986 Phosphatidylinositol (PI) greatly reduces the Ca2+ requirement for autolysis of native CANP (CAPN1), but not for CANP lacking the NH2-terminal hydrophobic/glycine-rich region of the 30 kDa small subunit, identifying this domain as essential for membrane interaction and PI-mediated Ca2+ sensitization. In vitro autolysis assay with defined lipid additions, truncated small-subunit variants, Ca2+-sensitivity measurement Journal of biochemistry High 3011770
1986 The E-F hand domain (four consecutive EF-hand structures) in both the large and small subunits of CANP (CAPN1) binds Ca2+ (2–4 mol per domain), with Ca2+-binding affinity of the large subunit EF-hand correlating with the Ca2+ concentration required for enzyme activation. E. coli expression of EF-hand domain fragments from cDNA, microscale filter Ca2+-binding assay Journal of biochemistry High 3038855
1986 The 30 kDa small subunit of CANP (CAPN1) has a bipartite domain structure: an NH2-terminal hydrophobic domain that determines subcellular localization, and a COOH-terminal calmodulin-like Ca2+-binding domain that regulates enzyme activity. cDNA cloning and sequence analysis, domain structure inference from mutant characterization Biomedica biochimica acta Medium 3034236
1987 The COOH-terminal EF-hand structures of both subunits of mCANP (CAPN1) are essential for subunit association and resulting proteolytic activity; carboxypeptidase Y removal of 8–10 residues from COOH-termini under denaturing conditions abolishes subunit complex formation and activity, even upon mixing with native subunits. Carboxypeptidase Y digestion under graded denaturing conditions, subunit reassociation assay, protease activity measurement Journal of biochemistry High 3034871
1986 In retinal ganglion cell axons, CANP A (mM Ca2+-requiring, equivalent to CAPN1) can degrade >50% of axonal proteins >60 kDa within 5 min when maximally activated, with preferential action on high-MW proteins including fodrin; CANP activity is at least 6-fold greater in neurons than adjacent optic glia, implicating CAPN1 in cytoskeletal remodeling in neurons. In vitro incubation of intact axon segments at defined Ca2+ concentrations, SDS-PAGE quantification of substrate degradation, comparative neuron vs. glia fractionation The Journal of neuroscience High 3012011 3012012
1988 Purified µ- and m-CANP (including CAPN1) process a ~160 kDa kyotorphin-precursor protein in synaptosomal preparations, implicating CAPN1 as a neuropeptide-precursor processing enzyme in nerve terminals. Synaptosomal isolation, Sephacryl gel filtration, in vitro incubation with purified CANP, Ca2+-dependent inhibition by leupeptin/SH-blocking agents Biochemical and biophysical research communications Medium 2844173
1990 Phosphatidylinositol (PI) reduces the Ca2+ requirement of brain mCANP (CAPN1) ~20-fold in a concentration-dependent manner; PI, phosphatidylserine, and diacylglycerol stimulate activity, while phosphatidylcholine is least effective; the effect is blocked by trifluoperazine, indicating phospholipid-binding is required for activation. Purified brain CANP incubated with defined lipids, [14C]azocasein assay, pharmacological inhibition Biochimica et biophysica acta High 2331482
1990 Gangliosides (GD1a, GT1a, GM1, GM2) stimulate mCANP (CAPN1) activity in a concentration-dependent manner and reduce Ca2+ requirement 10–50-fold depending on structure; GD1b is inhibitory; free N-acetylneuraminic acid, asialo-GM1, and GM3 have no effect, indicating the effect is structure-specific and not mediated by phospholipid-binding pathways (trifluoperazine-insensitive). Purified CANP incubated with defined gangliosides, azocasein assay, pharmacological comparison Journal of neurochemistry High 2182778
1991 In Schwann cells, µ-CANP (CAPN1) is predominantly cytosolic (~80%), whereas m-CANP is predominantly membrane-associated (~75%); immunofluorescence confirms cytosolic localization of µ-CANP and perinuclear/intracellular localization of m-CANP, establishing distinct compartmentalization of the two isoforms. DEAE and phenyl-Sepharose fractionation of subcellular fractions, Triton X-100 activation assay, immunofluorescence on live vs. permeabilized cells Journal of neuroscience research High 1656060
2000 Calpain-mediated cleavage of the CDK5 activator p35 produces p25, causing prolonged CDK5 activation and mislocalization; Ca2+ influx or excitotoxins trigger this conversion in neurons, and specific calpain inhibitors block it both in cell-free systems and in cultured neurons, identifying CAPN1-family calpain as the protease responsible for a pathological p35→p25 conversion linked to Alzheimer's-like tau hyperphosphorylation. Primary cortical neuron culture, Ca2+ ionophore/excitotoxin treatment, calpain inhibitor pharmacology, in vitro calpain cleavage assay with recombinant p35 Nature High 10830966
2003 The calpain system (including µ-calpain/CAPN1 and m-calpain) are heterodimers of an 80-kDa catalytic subunit and a shared 28-kDa subunit; calpastatin inhibits both by binding to three distinct sites on the calpain molecule in a Ca2+-dependent manner at two of the three sites; structural analysis of m-calpain reveals six domains in the 80-kDa subunit (NH2-terminal sequence, IIa/IIb active site, domain III, linker, domain IV/penta-EF-hand). Crystallographic structure of m-calpain, biochemical characterization, cDNA-based domain analysis, calpastatin-binding assays Physiological reviews High 12843408
2002 Ionomycin-induced calpain (µ- and m-calpain, including CAPN1) activation cleaves Bcl-2, Bid, and Bcl-xL in vitro at single sites truncating their N-terminal regions; calpain-truncated Bcl-2 and Bid induce cytochrome c release from isolated mitochondria, identifying a calpain-mediated mechanism that triggers the intrinsic apoptotic pathway. In vitro calpain cleavage of recombinant Bcl-2 family proteins, mitochondria cytochrome c release assay, calpastatin peptide inhibition, cellular apoptosis assays The Journal of biological chemistry High 12000759
2004 Calpain I (CAPN1) cleaves apoptosis-inducing factor (AIF) near its amino terminus in vitro; calpain-mediated AIF cleavage is required for AIF release from isolated mitochondria following outer membrane permeabilization by truncated Bid, and an endogenous mitochondrial calpain mediates AIF release during Ca2+-induced permeability transition. In vitro calpain I cleavage of recombinant AIF, isolated mitochondria release assay, calpeptin pharmacological inhibition, lipid vesicle binding assay The Journal of biological chemistry High 15590628
2006 Calpain-mediated cleavage of Atg5 generates a 24-kDa truncated fragment that translocates from cytosol to mitochondria, associates with Bcl-xL, and triggers cytochrome c release and caspase activation, providing a molecular link by which CAPN1-family calpains switch autophagy to apoptosis. In vitro calpain cleavage assay, subcellular fractionation, co-immunoprecipitation, overexpression/siRNA in tumor cells, xenograft model Nature cell biology High 16998475
2016 Calpain-1 (CAPN1) KO mice display cerebellar ataxia with enhanced granule cell apoptosis due to failure to cleave PHLPP1, which prevents Akt pro-survival signaling in developing granule cells; crossing CAPN1-KO with PHLPP1-KO mice or injecting bisperoxovanadium (indirect Akt activator) rescues granule cell density and motor coordination, placing CAPN1 upstream of PHLPP1 in an Akt-dependent neuroprotective pathway. CAPN1 KO mouse model, CAPN1/PHLPP1 double-KO epistasis, bisperoxovanadium injection, Western blotting for PHLPP1 cleavage, cerebellar histology, behavioral motor testing Cell reports High 27320912
2018 CAPN1 is a novel binding partner of the tumor suppressor NF1 in melanoma; shRNA-mediated knockdown or pharmacological inhibition of CAPN1 stabilizes NF1 protein levels, downregulates AKT signaling, and reduces melanoma cell growth, identifying CAPN1 as a protease that degrades NF1 to promote RAS activation. Mass spectrometry of NF1 binding partners, shRNA knockdown, calpain inhibitor treatment, protein stability assay, cell growth assay Oncotarget Medium 30131853
2021 In arrhythmogenic cardiomyopathy (ACM), Ca2+ overload activates CAPN1, which associates with mitochondria and cleaves mitochondria-bound AIF; cleaved AIF translocates to the nucleus causing large-scale DNA fragmentation and necrosis; overexpression of calpastatin (CAST) protects against Ca2+-overload-induced necrosis, and CAPN1 inhibition attenuates AIF truncation in stem cell-derived cardiomyocytes. Dsg2 mut/mut mouse model, calcium measurement, CAPN1-mitochondria co-fractionation, Western blot for AIF cleavage, CAST overexpression, embryonic stem cell-derived cardiomyocyte model, pharmacological CAPN1 inhibition Science translational medicine High 33597260
2021 CAPN1 activation during cerebral ischemia impairs autophagic flux by causing lysosomal membrane permeabilization and by cleaving autophagy regulators BECN1 (Beclin1) and ATG5, thereby suppressing autophagosome formation and promoting neuronal death; genetic and pharmacological CAPN1 inhibition rescues both lysosomal integrity and autophagosome formation. AAV-mediated CAPN1 knockdown, MDL-28170 pharmacological inhibition, rat MCAO in vivo model, oxygen-glucose deprivation in vitro model, lysosomal permeabilization assay, Western blot for BECN1/ATG5 cleavage Stroke High 33874744
2020 CAPN1 degrades PTPN1 (a protein tyrosine phosphatase), thereby allowing sustained phosphorylation of c-Met and PIK3R2 and promoting proliferation, metastasis, and erlotinib resistance in lung adenocarcinoma; Co-IP confirmed PTPN1–c-Met and PTPN1–PIK3R2 interactions, and cycloheximide chase showed CAPN1-dependent PTPN1 protein degradation. Co-immunoprecipitation, cycloheximide chase, siRNA knockdown, cell proliferation/invasion assays, CHX protein stability assay Thoracic cancer Medium 32395869
2022 Cisplatin activates calpain (including CAPN1) in esophageal cancer cells; mechanistically, activated CAPN1/CAPN2 promote BAK/BAX activation, leading to caspase-9 → caspase-3 → GSDME cleavage and pyroptosis; calpain inhibition or knockout suppresses this cascade. Calpain activity assay, calpain KO/inhibition, Western blotting for pathway components, LDH release assay, cell viability assay Chemico-biological interactions Medium 35525317
2021 Calpain-1 (CAPN1) cleaves Dicer near its active site in mouse brain, generating an active Dicer fragment with RNAse III activity; in CAPN1-KO mice, active Dicer levels are reduced and neurodegeneration-related miRNAs are downregulated; incubation of KO brain homogenates with purified calpain-1 plus Ca2+ restores Dicer activity and miRNA expression. CAPN1 KO mouse brain analysis, Western blot for Dicer cleavage products, in vitro calpain-1 + Ca2+ incubation assay, miRNA profiling BBA advances Medium 34286311
2025 CAPN1 interacts with and prevents nuclear translocation of TFEB after Pseudomonas aeruginosa infection, thereby inhibiting the autophagy-lysosome pathway; Co-IP and pull-down confirmed the CAPN1–TFEB interaction, and CAPN1-deficient mice reversed PAK-induced suppression of autolysosomes. Co-immunoprecipitation, pull-down, CAPN1-KO mouse model, immunofluorescence for TFEB localization, Western blot Journal of innate immunity Medium 40081346
2025 CAPN1 inhibits NF1 (neurofibromin 1) in medullary thyroid cancer (MTC), reducing NF1 protein levels and sustaining RAS/RET → AKT/ERK signaling; CAPN1 inhibitors stabilize NF1 and reduce MTC xenograft growth, consistent with the melanoma-derived finding that CAPN1 degrades NF1. Proteomic profiling, shRNA depletion, CAPN1 inhibitor treatment, NF1 protein stability assay, xenograft tumor growth, Western blotting for AKT/ERK Thyroid Medium 39868924
2026 The transmembrane protein CD99L2 serves as an activating interactor of CAPN1; loss-of-function variants in CD99L2 cause X-linked spastic ataxia, and cellular studies show CD99L2 exists mainly in ubiquitinated form and its cytoplasmic or extracellular domain ablation leads to intracellular mislocalization and abrogation of its CAPN1-activating interaction. Exome/genome sequencing, gene-burden analysis, Co-IP of CD99L2–CAPN1 interaction, domain-deletion constructs, immunofluorescence for localization, transcriptome analysis in patient fibroblasts Nature communications Medium 41690933
2025 Dexamethasone downregulates CAST and upregulates CAPN1 in bone marrow mesenchymal stem cells, inhibiting osteogenic differentiation and ATP activity (via ATP5A1 reduction); overexpression of CAST partially rescues osteogenesis while overexpression of CAPN1 exacerbates it, placing CAPN1 downstream of calpastatin in a DEX-regulated osteogenic pathway. qRT-PCR, Western blotting, overexpression plasmids, Alizarin Red S staining, ELISA for ATP/osteogenic markers Discovery medicine Low 40116104
1995 Ca2+ ions cause dissociation of the CAPN1 heterodimer into subunits, and the resulting free 80 kDa large subunit constitutes the active catalytic form of the enzyme; this dissociation represents the activation mechanism. Biochemical dissociation/reassociation experiments, activity assay of isolated subunits Biological chemistry Hoppe-Seyler High 8561910

Source papers

Stage 0 corpus · 130 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 The calpain system. Physiological reviews 2224 12843408
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2006 Calpain-mediated cleavage of Atg5 switches autophagy to apoptosis. Nature cell biology 1087 16998475
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2000 Neurotoxicity induces cleavage of p35 to p25 by calpain. Nature 915 10830966
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2008 Large-scale proteomics and phosphoproteomics of urinary exosomes. Journal of the American Society of Nephrology : JASN 607 19056867
2011 Global landscape of HIV-human protein complexes. Nature 593 22190034
2020 Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Science (New York, N.Y.) 564 33060197
2011 Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for β-Pix in negative regulation of focal adhesion maturation. Nature cell biology 490 21423176
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell 433 26638075
2022 OpenCell: Endogenous tagging for the cartography of human cellular organization. Science (New York, N.Y.) 432 35271311
2005 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome research 409 16344560
2015 Panorama of ancient metazoan macromolecular complexes. Nature 407 26344197
2001 The calpain family and human disease. Trends in molecular medicine 385 11516996
2007 Functional specialization of beta-arrestin interactions revealed by proteomic analysis. Proceedings of the National Academy of Sciences of the United States of America 360 17620599
2004 Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria. The Journal of biological chemistry 347 15590628
2017 Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proceedings of the National Academy of Sciences of the United States of America 282 28611215
2018 Enhancer Activity Requires CBP/P300 Bromodomain-Dependent Histone H3K27 Acetylation. Cell reports 274 30110629
2012 A high-throughput approach for measuring temporal changes in the interactome. Nature methods 273 22863883
2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Journal of proteome research 237 19199708
2011 Toward an understanding of the protein interaction network of the human liver. Molecular systems biology 207 21988832
2009 Proteomic analysis of integrin-associated complexes identifies RCC2 as a dual regulator of Rac1 and Arf6. Science signaling 207 19738201
1995 Calpain: novel family members, activation, and physiologic function. Biological chemistry Hoppe-Seyler 190 8561910
2002 Ionomycin-activated calpain triggers apoptosis. A probable role for Bcl-2 family members. The Journal of biological chemistry 182 12000759
1981 Limited autolysis of Ca2+-activated neutral protease (CANP) changes its sensitivity to Ca2+ ions. Journal of biochemistry 168 6270080
2002 Evaluation of single-nucleotide polymorphisms in CAPN1 for association with meat tenderness in cattle. Journal of animal science 123 12542147
1986 The amino-terminal hydrophobic region of the small subunit of calcium-activated neutral protease (CANP) is essential for its activation by phosphatidylinositol. Journal of biochemistry 120 3011770
2005 A new single nucleotide polymorphism in CAPN1 extends the current tenderness marker test to include cattle of Bos indicus, Bos taurus, and crossbred descent. Journal of animal science 110 16100054
1986 Limited autolysis of calcium-activated neutral protease (CANP): reduction of the Ca2+-requirement is due to the NH2-terminal processing of the large subunit. Journal of biochemistry 100 3023314
2016 Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell reports 91 27320912
1984 Comparison of low and high calcium requiring forms of the calcium-activated neutral protease (CANP) from rabbit skeletal muscle. Journal of biochemistry 86 6088474
2021 Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy. Science translational medicine 79 33597260
2004 Association of markers in the bovine CAPN1 gene with meat tenderness in large crossbred populations that sample influential industry sires. Journal of animal science 73 15537766
1986 Fodrin degradation by calcium-activated neutral proteinase (CANP) in retinal ganglion cell neurons and optic glia: preferential localization of CANP activities in neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience 68 3012012
2021 Chlorpyrifos triggers epithelioma papulosum cyprini cell pyroptosis via miR-124-3p/CAPN1 axis. Journal of hazardous materials 64 34879549
1986 Multiple calcium-activated neutral proteinases (CANP) in mouse retinal ganglion cell neurons: specificities for endogenous neuronal substrates and comparison to purified brain CANP. The Journal of neuroscience : the official journal of the Society for Neuroscience 57 3012011
2013 Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PloS one 54 23741357
1984 Conversion of myelin-associated glycoprotein (MAG) to a smaller derivative by calcium activated neutral protease (CANP)-like enzyme in myelin and inhibition by E-64 analogue. Neurochemical research 52 6206410
1990 Immunohistochemical distribution of calcium-activated neutral proteinases and endogenous CANP inhibitor in the rabbit hippocampus. The Journal of comparative neurology 51 2086609
1985 Hydrolytic and autolytic behavior of two forms of calcium-activated neutral protease (CANP). Journal of biochemistry 51 2999095
2005 Identification and molecular characterization of the rainbow trout calpains (Capn1 and Capn2): their expression in muscle wasting during starvation. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology 47 15621511
1987 E-F hand structure-domain of calcium-activated neutral protease (CANP) can bind Ca2+ ions. Journal of biochemistry 46 3038855
2022 Cisplatin-induced pyroptosis is mediated via the CAPN1/CAPN2-BAK/BAX-caspase-9-caspase-3-GSDME axis in esophageal cancer. Chemico-biological interactions 44 35525317
2011 Investigation on CAST, CAPN1 and CAPN3 porcine gene polymorphisms and expression in relation to post-mortem calpain activity in muscle and meat quality. Meat science 43 21450414
1986 Calcium activated neutral proteases (milli- and micro-CANP) and endogenous CANP inhibitor of muscle in Duchenne muscular dystrophy (DMD). Clinica chimica acta; international journal of clinical chemistry 40 3024865
1983 Reaction of calcium-activated neutral protease (CANP) with an epoxysuccinyl derivative (E64c) and iodoacetic acid. Journal of biochemistry 40 6309757
2000 Bovine CAPN1 maps to a region of BTA29 containing a quantitative trait locus for meat tenderness. Journal of animal science 39 11048924
2002 Involvement of [beta]-glucans in the wide-spectrum antimicrobial activity of Williopsis saturnus var. mrakii MUCL 41968 killer toxin. Molecular medicine (Cambridge, Mass.) 37 12520085
1987 The COOH-terminal E-F hand structure of calcium-activated neutral protease (CANP) is important for the association of subunits and resulting proteolytic activity. Journal of biochemistry 37 3034871
1987 Localization and inhibition of calcium-activated neutral protease (CANP) in primate skeletal muscle and peripheral nerve. Experimental neurology 35 2822459
1987 Distribution of calcium activated neutral proteinase (mM CANP) in myelin and cytosolic fractions in bovine brain white matter. Life sciences 35 3039281
2008 A single nucleotide polymorphism in CAPN1 associated with marbling score in Korean cattle. BMC genetics 34 18423040
1983 Degradation of myelin basic protein by calcium-activated neutral protease (CANP) in human brain and inhibition by E-64 analogue. Neurochemical research 32 6197665
2021 CAPN1 (Calpain1)-Mediated Impairment of Autophagic Flux Contributes to Cerebral Ischemia-Induced Neuronal Damage. Stroke 31 33874744
2013 Association of polymorphisms at DGAT1, leptin, SCD1, CAPN1 and CAST genes with color, marbling and water holding capacity in meat from beef cattle populations in Sweden. Meat science 30 23501244
2010 A newly classified vertebrate calpain protease, directly ancestral to CAPN1 and 2, episodically evolved a restricted physiological function in placental mammals. Molecular biology and evolution 29 20223856
2010 Association of SNPs on CAPN1 and CAST genes with tenderness in Nellore cattle. Genetics and molecular research : GMR 26 20662159
1988 Purification of calcium-activated neutral proteinase (CANP) from purified myelin of bovine brain white matter. Neurochemical research 25 2834658
1991 Calcium-activated neutral proteinase (CANP; calpain) activity in Schwann cells: immunofluorescence localization and compartmentation of mu- and mCANP. Journal of neuroscience research 24 1656060
2019 Effects of the MC4R, CAPN1, and ADSL genes on body weight and purine content in slow-growing chickens. Poultry science 23 31111951
2003 Different expression patterns of calpain isozymes 1 and 2 (CAPN1 and 2) in squamous cell carcinomas (SCC) and basal cell carcinomas (BCC) of human skin. The Journal of pathology 23 12635142
2020 CAPN1 promotes malignant behavior and erlotinib resistance mediated by phosphorylation of c-Met and PIK3R2 via degrading PTPN1 in lung adenocarcinoma. Thoracic cancer 22 32395869
2018 CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. European journal of medical genetics 22 30572172
2008 Study on association of single nucleotide polymorphism of CAPN1 gene with muscle fibre and carcass traits in quality chicken populations. Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 21 18727211
1990 Regulation of the calcium-activated neutral proteinase (CANP) of bovine brain by myelin lipids. Biochimica et biophysica acta 21 2331482
1989 The regional and subcellular distribution of calcium activated neutral proteinase (CANP) in the bovine central nervous system. Neurochemical research 21 2542823
2013 Identification and association of polymorphisms in CAPN1 and CAPN3 candidate genes related to performance and meat quality traits in chickens. Genetics and molecular research : GMR 20 23420372
2010 Assessment of GH1, CAPN1 and CAST polymorphisms as markers of carcass and meat traits in Bos indicus and Bos taurus-Bos indicus cross beef cattle. Meat science 19 20709461
2009 Effect of culturing processes and copper addition on laccase production by the white-rot fungus Fomes fomentarius MUCL 35117. Letters in applied microbiology 18 19413764
2010 Characterisation of capn1, capn2-like, capn3 and capn11 genes in Atlantic halibut (Hippoglossus hippoglossus L.): Transcriptional regulation across tissues and in skeletal muscle at distinct nutritional states. Gene 17 20093171
1990 Ganglioside-modulated proteolysis by Ca2(+)-activated neutral proteinase (CANP): a role of glycoconjugates in CANP regulation. Journal of neurochemistry 17 2182778
1990 Purification of an endogenous 68 kD inhibitor of calcium-activated neutral proteinase (CANP) from bovine brain: immunoblot identification and characterization. Journal of neuroscience research 17 2319618
1992 Response to atrial natriuretic peptide, endopeptidase 24.11 inhibitor and C-ANP receptor ligand in the rat. British journal of pharmacology 16 1330165
2018 Using non-ionic surfactant as an accelerator to increase extracellular lipid production by oleaginous yeast Cryptococcus curvatus MUCL 29819. Bioresource technology 15 30529332
2015 The induction of Ethylene response factor 3 (ERF3) in potato as a result of co-inoculation with Pseudomonas sp. R41805 and Rhizophagus irregularis MUCL 41833 - a possible role in plant defense. Plant signaling & behavior 15 25723847
2020 Deletion of the Capn1 Gene Results in Alterations in Signaling Pathways Related to Alzheimer's Disease, Protein Quality Control and Synaptic Plasticity in Mouse Brain. Frontiers in genetics 14 32328086
2018 Lambertellin from Pycnoporus sanguineus MUCL 51321 and its anti-inflammatory effect via modulation of MAPK and NF-κB signaling pathways. Bioorganic chemistry 14 29957490
1988 Calcium-activated neutral protease (CANP), a putative processing enzyme of the neuropeptide, kyotorphin, in the brain. Biochemical and biophysical research communications 14 2844173
1985 Characterization of calcium-activated neutral protease (CANP)-associated protein kinase from bovine brain and its phosphorylation of neurofilaments. Biochemical and biophysical research communications 14 2990469
2021 The Arbuscular Mycorrhizal Fungus Rhizophagus irregularis MUCL 41833 Modulates Metabolites Production of Anchusa officinalis L. Under Semi-Hydroponic Cultivation. Frontiers in plant science 13 34539717
2020 Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia. Annals of clinical and translational neurology 13 32860341
2019 Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review. Orphanet journal of rare diseases 13 31023339
2019 Dietary Creatine Supplementation in Gilthead Seabream (Sparus aurata) Increases Dorsal Muscle Area and the Expression of myod1 and capn1 Genes. Frontiers in endocrinology 12 30984105
2019 A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family. Frontiers in neurology 12 31231303
2018 CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. Practical neurology 12 29678961
2018 CAPN1 is a novel binding partner and regulator of the tumor suppressor NF1 in melanoma. Oncotarget 12 30131853
2018 Effects of polymorphisms in CAPN1 and CAST genes on meat tenderness of Chinese Simmental cattle. Archives animal breeding 12 32175450
2013 The effects of Capn1 gene inactivation on skeletal muscle growth, development, and atrophy, and the compensatory role of other proteolytic systems. Journal of animal science 12 23798514
2021 miR‑140‑5p alleviates mouse liver ischemia/reperfusion injury by targeting CAPN1. Molecular medicine reports 10 34296301
2020 CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation. The International journal of neuroscience 10 32352326
2015 Analysis of the genetic effects of CAPN1 gene polymorphisms on chicken meat tenderness. Genetics and molecular research : GMR 10 25730078
2004 Bovine mu-calpain (CAPN1) gene: new SNP within intron 14. Journal of applied genetics 10 15523157
1992 Calcium-activated neutral protease (CANP) in normal and dysmyelinating mutant paralytic tremor rabbit myelin. Molecular and chemical neuropathology 10 1418220
2010 CAPN1 markers in three Argentinean cattle breeds: report of a new InDel polymorphism within intron 17. Molecular biology reports 9 20838904
2019 CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76. Case reports in neurological medicine 8 31355030
2018 μ-Calpain (CAPN1), calpastatin (CAST), and growth hormone receptor (GHR) genetic effects on Angus beef heifer performance traits and reproduction. Theriogenology 8 29448132
2018 Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76). Stem cell research 7 30611022
2016 A g.-1256 A>C in the promoter region of CAPN1 is associated with semen quality traits in Chinese Holstein bulls. Reproduction (Cambridge, England) 7 27107033
2014 ERK/CANP rapid signaling mediates 17β-estradiol-induced proliferation of human breast cancer cell line MCF-7 cells. International journal of clinical and experimental medicine 7 24482702
2009 The association of CAPN1 316 marker genotypes with growth and meat quality traits of steers finished on pasture. Genetics and molecular biology 7 21637511
2020 Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases. Journal of the neurological sciences 5 31982778
2016 Association of single nucleotide polymorphisms in CAPN1, CAST and MB genes with meat color of Brahman and crossbreed cattle. Meat science 5 26946475
2007 [The mutation site analysis on CAPN1 gene of Wild boar, Min pig and Yorkshire]. Yi chuan = Hereditas 4 17548328
1995 Effect of endopeptidase-24.11 inhibitors and C-ANP receptor ligand on responses evoked in arterioles of rat cremaster muscle by atrial natriuretic peptide. British journal of pharmacology 4 8719785
1986 Structure and function of the small (30K) subunit of calcium-activated neutral protease (CANP). Biomedica biochimica acta 4 3034236
2017 Experimental Verification of CAPN1 and CAST Gene Polymorphisms in Different Generations of Da-Heng Broilers. BioMed research international 3 28713829
2013 Genetic polymorphism of the CAPN1 gene is associated with meat quality traits in Japanese quail. British poultry science 3 23647179
2025 Proteomic Profiling of Medullary Thyroid Cancer Identifies CAPN1 as a Key Regulator of NF1 and RET Fueled Growth. Thyroid : official journal of the American Thyroid Association 2 39868924
2025 Engineered exosomal miR140 modulates mitophagy of chondrocytes through targeting CAPN1 to alleviate osteoarthritis. Science China. Life sciences 2 40506565
2018 The effects of Capn1 gene inactivation on the differential expression of genes in skeletal muscle. Gene 2 29775750
2015 Characterization of a farnesyl diphosphate synthase gene from Penicillium brevicompactum MUCL 19011. Biotechnology letters 2 26334936
2014 Understanding the interaction determinants of CAPN1 inhibition by CAST4 from bovines using molecular modeling techniques. Molecules (Basel, Switzerland) 2 25215589
2025 CAPN1 Promotes Pseudomonas aeruginosa-Induced Infection by Interacting with TFEB and Inhibiting Autophagy. Journal of innate immunity 1 40081346
2025 Regulating Osteogenic Fate: How Dexamethasone Targets the CAST-CAPN1-ATP5A1 Axis in BMSCs. Discovery medicine 1 40116104
2023 Safety evaluation of the food enzyme inulinase from the genetically modified Aspergillus oryzae strain MUCL 44346. EFSA journal. European Food Safety Authority 1 37502015
2023 Safety evaluation of the food enzyme endo-polygalacturonase from the non-genetically modified Aspergillus tubingensis strain MUCL 55013. EFSA journal. European Food Safety Authority 1 38027442
2023 Polymorphisms and expressions of ADSL, MC4R and CAPN1 genes and their effects on economic traits in Egyptian chicken breeds. Molecular biology reports 1 38071695
2021 Changes in neurodegeneration-related miRNAs in brains from CAPN1-/- mice. BBA advances 1 34286311
2007 [Study on correlation between single nucleotide polymorphism of CAPN1 gene and muscle tenderness and carcass traits in chicken]. Yi chuan = Hereditas 1 17681928
2026 Spinal overexpression of CAPN1 in CaMKII neurons mediates paclitaxel-induced neuropathic pain via NCS-1-TRPV4 signaling. Molecular pain 0 41482880
2026 Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. Nature communications 0 41690933
2008 [Analysis of SNPs in partial exons and 3'UTR of CAPN1 in porcine]. Yi chuan = Hereditas 0 18550497
2000 Molecular characterization of Penicillium expansum MUCL mutants. Roumanian archives of microbiology and immunology 0 11845479
1999 [Polymorphism of exon 4 in the CANP-3 gene in patients with primary myopathies]. Genetika 0 10687099