Affinage

SEZ6L

Seizure 6-like protein · UniProt Q9BYH1

Length
1024 aa
Mass
111.8 kDa
Annotated
2026-06-10
36 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 4/4 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SEZ6L is a single-pass transmembrane neuronal glycoprotein whose cell-surface levels are governed by regulated proteolysis: it is a physiological substrate of the protease BACE1 (but not BACE2), which cleaves it near the transmembrane domain to release a soluble ectodomain, such that BACE1 inhibition increases neuronal surface SEZ6L and lowers shed ectodomain in CSF (PMID:27716410, PMID:23430253, PMID:29716987). Through its CUB and complement control protein (CCP) domains, SEZ6L is a weak regulator of the complement system, accelerating decay of C3 convertases and acting as a cofactor for Factor I-mediated cleavage of C3b (PMID:33936031). At the organismal level, constitutive loss of SEZ6L impairs motor coordination and increases anxiety while sparing spatial learning, and combined loss of the entire Sez6 family additionally reduces hippocampal dendritic spine density and impairs short-term memory, establishing SEZ6L as a contributor to dendritic spine structure and motor/cognitive behavior (PMID:34958451, PMID:31711114). SEZ6L proteolysis is altered in neurodegenerative contexts, being enhanced via endolysosomal mistrafficking in Niemann-Pick type C brains (PMID:29979789), and SEZ6L is transcriptionally induced by Foxo1 to promote neuropathic pain through Wnt5a/Ca2+ signaling in dorsal root ganglia (PMID:42083568).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2000 Medium

    Established the basic molecular identity of SEZ6L as a multidomain transmembrane protein and raised the question of a cancer link, framing the protein for later functional study.

    Evidence Full-length cDNA sequencing, GENSCAN prediction, and mutation/deletion screening of lung cancer cell lines

    PMID:11175339

    Open questions at the time
    • Functional consequence of the 22q12.1 deletion not directly tested
    • Domain functions inferred computationally, not biochemically
    • No tumor-suppressor mechanism demonstrated
  2. 2013 High

    Resolved which sheddase processes SEZ6L, showing BACE1 (not BACE2) mediates its ectodomain shedding, defining protease specificity.

    Evidence Quantitative proteomics of BACE1/BACE2 loss- and gain-of-function in pancreatic β-cells, in vitro and in vivo

    PMID:23430253

    Open questions at the time
    • Cleavage site not mapped in this study
    • Functional consequence of shedding not addressed
    • β-cell context, not neuronal
  3. 2013 Low

    Tested whether SEZ6L has a metabolic role, linking its expression level to LDL internalization and cellular cholesterol.

    Evidence RNAi knockdown and GFP-fusion overexpression with LDL internalization and free cholesterol assays in cells

    PMID:23468663

    Open questions at the time
    • No direct molecular mechanism for cholesterol regulation established
    • Part of a large-scale screen, single lab
    • Not validated in neurons or in vivo
  4. 2016 High

    Established SEZ6L as a bona fide physiological BACE1 substrate in neurons and mapped the cleavage site, defining how surface levels are controlled.

    Evidence Primary neuron BACE1 inhibition, cell surface biotinylation, MS cleavage-site mapping, CSF proteomics from BACE1-knockout mice

    PMID:27716410

    Open questions at the time
    • Functional consequence of cleavage for SEZ6L activity not shown
    • No structural detail of the cleaved ectodomain
    • Signaling downstream of shed ectodomain unknown
  5. 2018 High

    Quantified the magnitude of BACE1 control over neuronal surface SEZ6L using an orthogonal surface-proteomics method, confirming shedding governs abundance.

    Evidence SUSPECS click-chemistry surface glycoprotein labeling, label-free MS, immunoblot in neurons and mouse brain

    PMID:29716987

    Open questions at the time
    • Does not address physiological role of surface SEZ6L
    • Mechanism by which shedding alters function not tested
  6. 2018 Medium

    Showed SEZ6L proteolysis is disease-context dependent, being enhanced in Niemann-Pick type C brains via endolysosomal co-trafficking with BACE1.

    Evidence Regional immunoblot of Sez6L/sSez6L and IF co-localization of Sez6L and BACE1 in NPC1-null vs WT mouse brains and neurons

    PMID:29979789

    Open questions at the time
    • Endolysosomal trafficking mechanism proposed but not fully reconstituted
    • Causal contribution of enhanced shedding to NPC pathology untested
  7. 2020 Medium

    Used family triple-knockout to assign the Sez6 family, including SEZ6L, a role in dendritic spine structure and motor/cognitive function.

    Evidence Sez6/Sez6L/Sez6L2 triple knockout mice with spine morphology analysis and behavioral battery

    PMID:31711114

    Open questions at the time
    • SEZ6L-specific contribution confounded by combined family loss
    • Molecular mechanism linking SEZ6L to spine morphology unknown
  8. 2021 High

    Defined a molecular activity for SEZ6L as a weak complement regulator acting through convertase decay acceleration and Factor I cofactor activity.

    Evidence In vitro complement inhibition, C3 convertase decay, and Factor I cofactor assays with C3b/C4b substrates

    PMID:33936031

    Open questions at the time
    • Physiological relevance of complement regulation in neurons not shown
    • Whether shedding modulates complement activity untested
    • In vitro reconstitution from single lab
  9. 2021 Medium

    Isolated SEZ6L-specific in vivo function with a constitutive knockout, revealing motor coordination and anxiety phenotypes independent of cerebellar gross structure.

    Evidence SEZ6L constitutive knockout behavioral testing and cerebellar proteomics

    PMID:34958451

    Open questions at the time
    • No molecular pathway rescue
    • Brain regions driving phenotype not identified
    • Link to complement or shedding activity not established
  10. 2022 Medium

    Showed that elevated BACE1 in an Alzheimer's model does not enhance SEZ6L proteolysis, instead altering its subcellular distribution near plaques, distinguishing AD from NPC contexts.

    Evidence Immunoblot for cleavage products and IF co-localization in 5xFAD vs WT mouse brain

    PMID:35998821

    Open questions at the time
    • Mechanism of altered distribution not defined
    • Negative proteolysis result from single study/lab
  11. 2026 Medium

    Connected SEZ6L to neuropathic pain signaling, placing it downstream of Foxo1 transcription and upstream of Wnt5a/Ca2+ activation in dorsal root ganglia.

    Evidence Spared nerve injury model, siRNA knockdown, pain behavioral testing, cytokine ELISA, ChIP for Foxo1, pathway bioinformatics

    PMID:42083568

    Open questions at the time
    • Wnt5a/Ca2+ link is partly bioinformatic
    • Direct mechanism linking SEZ6L protein to Wnt5a signaling not shown
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How BACE1-mediated shedding mechanistically links to SEZ6L's complement-regulatory and synaptic functions, and the molecular basis of its cholesterol and pain-signaling roles, remains unresolved.
  • No mechanism connecting ectodomain shedding to downstream SEZ6L function
  • SEZ6L-specific (vs family) synaptic mechanism undefined
  • No structural model of SEZ6L domains or its ligands

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 1 GO:0140096 catalytic activity, acting on a protein 1
Localization
GO:0005886 plasma membrane 2 GO:0005768 endosome 1
Pathway
R-HSA-392499 Metabolism of proteins 3 R-HSA-168256 Immune System 1
Partners

Evidence

Reading pass · 11 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2016 SEZ6L is a physiological substrate of BACE1 in neurons. BACE1 cleaves SEZ6L near the membrane, releasing a soluble ectodomain (sSEZ6L). BACE1 inhibition increases neuronal surface levels of SEZ6L (shown by cell surface biotinylation) and reduces sSEZ6L in CSF of BACE1-deficient mice. Mass spectrometry mapped the BACE1 cleavage site in SEZ6L to a position close to the transmembrane domain. Primary neuron cultures with BACE1 inhibitor treatment, cell surface biotinylation, mass spectrometry cleavage-site mapping, CSF proteomics from BACE1-knockout mice, custom antibody validation Molecular neurodegeneration High 27716410
2013 SEZ6L is a substrate of BACE1 (and not BACE2) in pancreatic β-cells, with BACE1 mediating ectodomain shedding of SEZ6L; BACE2 has non-redundant roles shedding a distinct substrate set (SEZ6L2, not SEZ6L). Quantitative proteomics of BACE1/BACE2 loss- and gain-of-function models in β-cells (in vitro and in vivo), systematic sheddome/secretome analysis The Journal of biological chemistry High 23430253
2018 BACE1 controls the surface expression and proteolysis of SEZ6L in neurons; pharmacological BACE1 inhibition increases SEZ6L abundance at the neuronal cell surface (up to 7-fold by SUSPECS click-chemistry glycoprotein labeling), consistent with BACE1-mediated shedding controlling surface levels. SUSPECS (click chemistry-based surface glycoprotein biotinylation), label-free quantitative mass spectrometry, immunoblot validation in neurons and mouse brain Molecular & cellular proteomics High 29716987
2000 SEZ6L encodes a 1024 amino acid transmembrane protein with multiple protein-protein interaction and signal transduction domains (determined by full-length cDNA sequencing combined with GENSCAN genomic prediction and RT-PCR). A 428 kb homozygous deletion at 22q12.1 encompassing SEZ6L was identified in a small cell lung cancer cell line, and missense mutations were detected in lung cancer cell lines. RT-PCR, GENSCAN gene prediction from genomic sequence, deletion breakpoint cloning, mutation screening of cancer cell lines Oncogene Medium 11175339
2021 Sez6 family members (Sez6, Sez6L, Sez6L2) inhibit complement by two mechanisms: (1) accelerating dissociation of C3 convertases, and (2) acting as cofactors for Factor I to facilitate cleavage of C3b (but not C4b). For the classical pathway, Sez6L is a weak inhibitor compared to Sez6 (strong) and Sez6L2 (moderate). For the alternative pathway, all three family members inhibit at or above the level of the known complement regulator MCP. The CUB and complement control protein (CCP) domains in these proteins provide the structural basis for complement regulatory activity. In vitro complement inhibition assays (classical and alternative pathway C3b/iC3b opsonization), C3 convertase decay assay, Factor I cofactor assay with C3b and C4b substrates Frontiers in immunology High 33936031
2021 SEZ6L constitutive knockout mice display motor phenotypes in adulthood (altered gait, decreased motor coordination) and increased anxiety-like behaviour, while spatial learning and memory are normal. Gross anatomy and proteome of the adult SEZ6L knockout cerebellum showed no major differences from wild type, suggesting contributions from non-cerebellar regions. SEZ6L constitutive knockout mouse behavioral testing (gait analysis, rotarod, Morris water maze, anxiety assays), cerebellar proteomics Molecular neurobiology Medium 34958451
2020 Sez6 family triple knockout (lacking Sez6, Sez6L, and Sez6L2) mice show reduced dendritic spine density in the hippocampus and a shift to more immature spine morphologies in somatosensory cortex, along with impaired motor learning, motor coordination decline, impaired working and spatial short-term memory, enhanced stress responsiveness, and reversal learning deficit. This establishes the Sez6 family (including Sez6L) as regulators of dendritic spine structure and cognitive/motor function. Triple knockout mouse model, dendritic spine morphology analysis, behavioral battery (rotarod, Morris water maze, working memory, anxiety tests) Cerebral cortex Medium 31711114
2018 In Niemann-Pick type C (NPC1-null) mouse brains, BACE1-mediated cleavage of Sez6L is enhanced, particularly in cortex, hippocampus, and cerebellum at terminal disease stage. Sez6L and BACE1 co-localize in increased puncta within the endolysosomal pathway in NPC1-null primary neurons, suggesting that a trafficking defect in the endolysosomal pathway drives enhanced BACE1 proteolysis of Sez6L. Sez6L is expressed in Purkinje neurons and its immunostaining is lost upon Purkinje cell neurodegeneration. Immunoblot quantification of Sez6L and sSez6L in regional brain lysates, immunofluorescence co-localization of Sez6L and BACE1 in primary cortical neurons and brain sections, comparison of NPC1-null vs. wild-type mice at two ages PloS one Medium 29979789
2022 In 5xFAD Alzheimer's disease mouse brains, accumulation of BACE1 in peri-plaque regions and enhanced BACE1 levels do NOT increase proteolysis of Sez6L (or Sez6) compared to WT; instead, Sez6 and Sez6L show altered subcellular distribution in the area of amyloid plaques distinct from APP, BACE1, and LAMP1 localization. Immunoblot for Sez6L cleavage products in 5xFAD vs. WT mouse brains, immunofluorescence co-localization analysis in brain sections Mechanisms of ageing and development Medium 35998821
2026 Sez6l is upregulated in dorsal root ganglion (DRG) in the spared nerve injury (SNI) neuropathic pain model. siRNA-mediated knockdown of Sez6l in SNI mice reduced inflammatory cytokines (IL-6, TNF-α, IL-1β) and alleviated mechanical allodynia and thermal hyperalgesia. ChIP experiments indicated that Foxo1 transcriptionally activates Sez6l. Mechanistically, Sez6l promotes neuropathic pain by activating the Wnt5a/Ca2+ signaling pathway in DRGs. SNI mouse model, siRNA knockdown, behavioral pain testing (von Frey, thermal hyperalgesia), ELISA for cytokines, ChIP for Foxo1 binding to Sez6l promoter, bioinformatics pathway analysis Frontiers in genetics Medium 42083568
2013 RNAi knockdown of SEZ6L in cells affects LDL internalization and/or cellular free cholesterol levels. Overexpression of SEZ6L as a GFP-tagged fusion protein inversely modifies cellular cholesterol levels, and knockdown correlates with altered LDL-receptor levels, indicating SEZ6L has a cholesterol-regulatory function in cells. RNAi knockdown, LDL internalization assay, free cholesterol measurement, GFP-fusion overexpression, LDL-receptor level measurement PLoS genetics Low 23468663

Source papers

Stage 0 corpus · 36 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 DNA methylation profiles of gastric carcinoma characterized by quantitative DNA methylation analysis. Laboratory investigation; a journal of technical methods and pathology 146 18158559
2016 Seizure protein 6 and its homolog seizure 6-like protein are physiological substrates of BACE1 in neurons. Molecular neurodegeneration 99 27716410
2013 Systematic proteomic analysis identifies β-site amyloid precursor protein cleaving enzyme 2 and 1 (BACE2 and BACE1) substrates in pancreatic β-cells. The Journal of biological chemistry 81 23430253
2016 High-definition CpG methylation of novel genes in gastric carcinogenesis identified by next-generation sequencing. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 49 26769141
2020 Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties. Cerebral cortex (New York, N.Y. : 1991) 47 31711114
2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers. Circulation. Cardiovascular genetics 47 23505291
2013 RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function. PLoS genetics 46 23468663
2016 IL-10 and integrin signaling pathways are associated with head and neck cancer progression. BMC genomics 44 26747525
2000 Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. Oncogene 39 11175339
2023 Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity. Brain : a journal of neurology 37 36448302
2021 The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases. Frontiers in immunology 34 33936031
2016 Genomic Regions Associated With Interspecies Communication in Dogs Contain Genes Related to Human Social Disorders. Scientific reports 31 27685260
2018 Click Chemistry-mediated Biotinylation Reveals a Function for the Protease BACE1 in Modulating the Neuronal Surface Glycoproteome. Molecular & cellular proteomics : MCP 30 29716987
2007 Seizure 6-like (SEZ6L) gene and risk for lung cancer. Cancer research 27 17804757
2021 Novel Insight in Idiopathic Normal Pressure Hydrocephalus (iNPH) Biomarker Discovery in CSF. International journal of molecular sciences 24 34360799
2012 Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: evidence of gene × gender interaction. Journal of affective disorders 21 22920719
2022 Characterization of Different Subtypes of Immune Cell Infiltration in Glioblastoma to Aid Immunotherapy. Frontiers in immunology 15 35799789
2018 BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. PloS one 14 29979789
2020 Arsenic Exposure and Cancer-Related Proteins in Urine of Indigenous Bolivian Women. Frontiers in public health 13 33381488
2022 Insight Into Pituitary lncRNA and mRNA at Two Estrous Stages in Small Tail Han Sheep With Different FecB Genotypes. Frontiers in endocrinology 12 35178025
2015 Genomic Study of Cardiovascular Continuum Comorbidity. Acta naturae 12 26483964
2021 The β-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice. Molecular neurobiology 11 34958451
2022 Development of a Multiprotein Classifier for the Detection of Early Stage Ovarian Cancer. Cancers 10 35804849
2024 Identification of endocrine-disrupting chemicals targeting key DCM-associated genes via bioinformatics and machine learning. Ecotoxicology and environmental safety 8 38460409
2024 Cell Fate Dynamics Reconstruction Identifies TPT1 and PTPRZ1 Feedback Loops as Master Regulators of Differentiation in Pediatric Glioblastoma-Immune Cell Networks. Interdisciplinary sciences, computational life sciences 7 39420135
2025 Joint analysis of whole-genome methylation and transcriptome in avian pullorum disease and validation of gene function. BMC genomics 2 40597609
2025 Deep learning-based feature discovery for decoding phenotypic plasticity in pediatric high-grade gliomas single-cell transcriptomics. Computers in biology and medicine 2 40848317
2025 Single-nuclei RNA sequencing unveils astrocyte and oligodendrocyte lineage cells in post-stroke human brain. Experimental neurology 2 41238151
2024 Genetic background of walking ability and its relationship with leg defects, mortality, and performance traits in turkeys (Meleagris gallopavo). Poultry science 2 38788487
2026 SEZ6L2 Loss Disrupts Motor Coordination, Cognitive Function, and Synaptic Connectivity. bioRxiv : the preprint server for biology 1 41502956
2025 Effects of Oral Administration of the Probiotic Lactobacillus rhamnosus GG on the Proteomic Profiles of Cerebrospinal Fluid and Immunoregulatory Signaling in the Hippocampus of Adult Male Rats. Neuroimmunomodulation 1 40031897
2022 Amyloid-ß plaque formation and BACE1 accumulation in the brains of a 5xFAD Alzheimer's disease mouse model is associated with altered distribution and not proteolysis of BACE1 substrates Sez6 and Sez6L. Mechanisms of ageing and development 1 35998821
2026 Genome-wide association study identifies GAK and KLF12 associated with curve severity of adolescent idiopathic scoliosis. PeerJ 0 41584833
2026 Sez6l promotes neuropathic pain via Wnt5a/Ca2+ pathways in dorsal root ganglion. Frontiers in genetics 0 42083568
2026 Correction: Sez6L2 inhibits complement by facilitating factor I cleavage of C3b and accelerating the decay of C3 convertases. Frontiers in immunology 0 42253996
2022 A Proteomics Study of the Subacute Toxicity of Rat Brain after Long- Term Exposure of Gelsemium elegans. Current molecular pharmacology 0 34886788

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