Affinage

SEZ6

Seizure protein 6 homolog · UniProt Q53EL9

Length
994 aa
Mass
107.4 kDa
Annotated
2026-06-10
26 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SEZ6 is a brain-enriched type I transmembrane protein whose extracellular region comprises five complement-control short consensus repeats (sushi/SCR domains) and CUB-like domains, and which exists as both membrane-bound and secreted isoforms generated by alternative splicing (PMID:7723619, PMID:7488116). Through its SCR domains, SEZ6 acts as a negative regulator of complement: it inhibits C3b/iC3b opsonization by accelerating decay of C3 convertases and serving as a Factor I cofactor for cleavage of C3b, with SEZ6 the strongest classical-pathway inhibitor among its family (PMID:33936031). In the nervous system, SEZ6 shapes neuronal morphology, with membrane-bound and secreted isoforms exerting opposing effects on dendritic branching; loss of SEZ6 produces excess short dendrites and excessive branching while reducing dendritic spine density, PSD-95 puncta, and excitatory postsynaptic responses in cortical pyramidal neurons (PMID:18031681), and combined loss across the SEZ6 family reduces hippocampal spine density and shifts spines toward immature forms (PMID:31711114). The membrane isoform is processed by BACE1, which sheds the SEZ6 ectodomain into cerebrospinal fluid (PMID:29979789, PMID:31041421). N-glycosylation of the extracellular domain, particularly the SC4-7 site cluster, governs SEZ6 membrane distribution and its filopodia-inducing activity (PMID:25960298).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1995 High

    Established the molecular identity of SEZ6 as a brain-specific type I transmembrane protein built from complement-control sushi/SCR repeats and CUB-like domains, defining the domain architecture that would later predict its complement-regulatory function.

    Evidence cDNA cloning, sequence analysis, in vitro translation, and anti-peptide immunoblot

    PMID:7488116 PMID:7723619

    Open questions at the time
    • No functional activity assigned to the SCR/CUB domains at this stage
    • Tissue expression resolved only to cerebrum/cerebellum
  2. 1995 Medium

    Identified alternative splicing yielding membrane-bound and secreted SEZ6 isoforms, raising the possibility that different isoforms carry distinct functions.

    Evidence PCR-based cDNA cloning and sequence analysis

    PMID:7488116

    Open questions at the time
    • Functional differences between isoforms not tested
    • Relative abundance and regulation of isoforms unknown
  3. 2007 High

    Demonstrated a physiological neuronal role: SEZ6 controls dendritic arborization and excitatory connectivity, with membrane-bound and secreted isoforms acting in opposition.

    Evidence Sez6-null mouse analysis, isoform overexpression rescue in knockout neurons, slice electrophysiology, PSD-95 immunostaining

    PMID:18031681

    Open questions at the time
    • Molecular mediators of the opposing isoform effects not identified
    • No receptor or binding partner defined for the secreted form
  4. 2011 Low

    Linked SEZ6 to NGF-induced neurite outgrowth via a candidate PKCγ pathway, offering an intracellular signaling correlate.

    Evidence shRNA knockdown in PC12 cells with NGF treatment and PKCγ Western blot

    PMID:22351987

    Open questions at the time
    • PKCγ link is correlative, not a demonstrated direct interaction
    • Single cell line and single knockdown approach
    • Apparent pro-outgrowth role contrasts with anti-branching role of membrane isoform in cortical neurons
  5. 2015 Medium

    Showed that extracellular N-glycosylation, specifically the SC4-7 cluster, is required for SEZ6 surface distribution and filopodia induction, identifying a post-translational determinant of its membrane activity.

    Evidence Site-directed mutagenesis of N-glycosylation sites in Neuro2a cells with immunofluorescence and conditioned-medium analysis

    PMID:25960298

    Open questions at the time
    • Mechanism connecting glycosylation to filopodia formation unresolved
    • Single cell line, single study
  6. 2018 Medium

    Identified BACE1 as the protease that sheds the SEZ6 ectodomain and showed endolysosomal trafficking defects (in NPC1-null neurons) enhance this cleavage.

    Evidence Immunoblot of BACE1-cleaved fragments in NPC1-/- mouse brain and endolysosomal marker immunofluorescence in primary neurons

    PMID:29979789

    Open questions at the time
    • Functional consequence of shedding for neuronal SEZ6 activity not established
    • Cleavage site not mapped
  7. 2019 Medium

    Confirmed that BACE1-shed SEZ6 ectodomain reaches human cerebrospinal fluid, establishing it as an accessible product of SEZ6 processing.

    Evidence Western blot detection of shed SEZ6 ectodomain in human CSF

    PMID:31041421

    Open questions at the time
    • No quantitative or disease-state correlation established
    • Single method, single lab
  8. 2020 Medium

    Demonstrated a collective SEZ6-family requirement for dendritic spine structure, extending the single-gene synaptic phenotype to functional redundancy across SEZ6/SEZ6L/SEZ6L2.

    Evidence Sez6 triple-knockout mice with dendritic spine morphology imaging across brain regions

    PMID:31711114

    Open questions at the time
    • Relative contribution of each family member not dissected
    • Downstream synaptic mechanism unresolved
  9. 2021 High

    Defined the biochemical mechanism of SEZ6 complement regulation: accelerated C3 convertase decay plus Factor I cofactor activity for C3b cleavage, assigning function to the sushi-domain architecture identified in 1995.

    Evidence Reconstituted in vitro complement opsonization, convertase decay, and Factor I cofactor assays with purified proteins

    PMID:33936031

    Open questions at the time
    • In vivo relevance of complement regulation in brain not demonstrated
    • Mechanism uses SEZ6L2 as the representative for detailed assays
  10. 2022 Medium

    Distinguished SEZ6 from APP in Alzheimer pathology: peri-plaque BACE1 accumulation alters SEZ6 spatial distribution without enhancing its proteolysis.

    Evidence Immunoblot for BACE1-cleaved fragments and immunofluorescence co-localization in 5xFAD versus wild-type brains

    PMID:35998821

    Open questions at the time
    • Cause of the localization shift unexplained
    • Functional consequence for synapses near plaques untested
  11. 2022 Low

    Showed that neuronal activity modulates the balance of SEZ6 splice isoforms in a region-specific manner, connecting isoform choice to neuronal state.

    Evidence Isoform-specific qPCR on mouse brain punches and convulsant-treated cultured cortical neurons

    PMID:36368155

    Open questions at the time
    • Descriptive expression analysis without functional rescue
    • Mechanism coupling activity to splicing unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SEZ6 integrates its surface complement-regulatory activity with its control of dendritic morphology and spines remains unresolved, and no neuronal receptor or binding partner for the secreted isoform has been identified.
  • No identified neuronal binding partner or receptor
  • Unclear whether complement regulation operates in the CNS in vivo
  • Functional role of the shed ectodomain unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 1
Localization
GO:0005576 extracellular region 2 GO:0005886 plasma membrane 2 GO:0005768 endosome 1
Pathway
R-HSA-112316 Neuronal System 2 GO:0140096 catalytic activity, acting on a protein 1 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
1995 SEZ-6 encodes a brain-specific type I transmembrane protein containing five short consensus repeats (SCRs/sushi domains, complement C3b/C4b binding sites) and two CUB domain-like sequences, plus a signal sequence, threonine-rich domain, transmembrane domain, and short cytoplasmic tail. The protein is post-translationally modified and expressed in cerebrum and cerebellum. cDNA cloning, sequence analysis, in vitro translation, immunoblot with anti-SEZ6 peptide antibody Brain research. Molecular brain research / Biochemical and biophysical research communications High 7488116 7723619
1995 SEZ-6 exists in at least three isoforms generated by alternative splicing: one encoding a membrane protein with the full complement of SCRs/CUB domains, one encoding a membrane protein with a different C-terminal region, and one encoding a secreted protein with two SCRs and one CUB-like domain. PCR-based cDNA cloning and sequence analysis Biochemical and biophysical research communications Medium 7488116
2007 Sez-6 is required for normal dendritic arborization of cortical pyramidal neurons: sez-6 null mice exhibit excess short dendrites and excessive neurite branching in cultured cortical neurons. Membrane-bound and secreted Sez-6 isoforms exert opposing effects on dendritic branching, with membrane-bound Sez-6 exerting an anti-branching effect under basal and depolarizing conditions. Loss of Sez-6 also reduces dendritic spine density and PSD-95 punctate staining, and reduces excitatory postsynaptic responses in layer V pyramidal neurons. Sez-6 null mouse analysis, isoform overexpression rescue in knockout neurons, slice electrophysiology, immunostaining for PSD-95 Neuron High 18031681
2021 Sez6 family members (Sez6, Sez6L, Sez6L2) inhibit complement activation: they inhibit C3b/iC3b opsonization by classical and alternative pathways. Using Sez6L2 as representative, the mechanism involves (1) accelerating dissociation of C3 convertases (decay-accelerating activity) and (2) functioning as a cofactor for Factor I to facilitate cleavage of C3b (but not C4b). Sez6 is the strongest classical pathway inhibitor among family members. In vitro complement opsonization assay, C3 convertase decay assay, Factor I cofactor assay with purified proteins Frontiers in immunology High 33936031
2015 N-glycosylation of Sez-6 regulates its cell surface distribution and function. Sez-6 has 11 N-glycosylation sites in three clusters (SC1-3, SC4-7, SC8-11) in the extracellular domain. Mutants lacking the SC4-7 cluster fail to induce filopodia-like protrusions, indicating SC4-7 is required for this activity. The unglycosylated mutant and mutants with only one cluster showed altered localization on the cell membrane compared to wild-type even distribution. Site-directed mutagenesis of N-glycosylation sites, transfection into Neuro2a cells, immunofluorescence, conditioned medium analysis Biochemical and biophysical research communications Medium 25960298
2011 Sez-6 promotes neurite outgrowth in PC12 cells: shRNA-mediated knockdown of Sez-6 inhibited NGF-induced neurite outgrowth and was associated with increased PKCγ protein levels, suggesting Sez-6 acts through the PKCγ signaling pathway. shRNA knockdown in PC12 cells, NGF treatment, neurite outgrowth measurement, PKCγ Western blot Zeitschrift fur Naturforschung. C, Journal of biosciences Low 22351987
2018 BACE1 cleaves Sez6 and Sez6L, shedding their extracellular domains. Enhanced BACE1 cleavage of Sez6 and Sez6L is detected in NPC1-null mouse brains at 4 weeks of age. In NPC1-null primary cortical neurons, Sez6 and Sez6L show increased punctate staining within the endolysosomal pathway, suggesting trafficking defects within the endolysosomal pathway contribute to enhanced BACE1 proteolysis. Immunoblot quantification of BACE1-cleaved fragments in NPC1-/- vs wild-type mouse brains, immunofluorescence of endolysosomal markers in primary neurons PloS one Medium 29979789
2019 The type I transmembrane isoform of Sez6 is cleaved by BACE1, resulting in shedding of the Sez6 extracellular domain; BACE1-shed Sez6 is detectable in human cerebrospinal fluid by Western blot. Western blot detection of shed Sez6 ectodomain in human CSF samples Pain reports Medium 31041421
2020 Triple knockout of all three Sez6 family proteins (Sez6, Sez6L, Sez6L2) reduces dendritic spine density in the hippocampus and shifts spine morphology toward more immature forms in the somatosensory cortex, establishing a collective role for the Sez6 family in dendritic spine structure. Sez6 triple knockout mice, dendritic spine morphology analysis (imaging) Cerebral cortex Medium 31711114
2022 In the 5xFAD Alzheimer's disease mouse model, accumulation of BACE1 around amyloid plaques does NOT result in enhanced proteolysis of Sez6 or Sez6L (in contrast to APP). Instead, Sez6 and Sez6L show altered spatial distribution in peri-plaque regions, suggesting their localization but not their BACE1-mediated cleavage is affected in AD pathology. Immunoblot for BACE1-cleaved Sez6/Sez6L fragments in 5xFAD vs wild-type brains, immunofluorescence co-localization Mechanisms of ageing and development Medium 35998821
2022 Alternative splicing of Sez6 produces isoforms with distinct brain region-specific expression patterns; convulsant drug stimulation increases expression of recessive (secreted) isoforms alongside the dominant transmembrane isoform in cultured cortical neurons, indicating neuronal activity modulates isoform balance. Isoform-specific qPCR on mouse brain area punches and cultured cortical neurons treated with convulsant Biochemical and biophysical research communications Low 36368155

Source papers

Stage 0 corpus · 26 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Sez-6 proteins affect dendritic arborization patterns and excitability of cortical pyramidal neurons. Neuron 123 18031681
2022 ABBV-011, A Novel, Calicheamicin-Based Antibody-Drug Conjugate, Targets SEZ6 to Eradicate Small Cell Lung Cancer Tumors. Molecular cancer therapeutics 52 35642431
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
1995 Cloning and expression of SEZ-6, a brain-specific and seizure-related cDNA. Brain research. Molecular brain research 41 7723619
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
1995 Cloning and characterization of seizure-related gene, SEZ-6. Biochemical and biophysical research communications 32 7488116
2002 Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. Mechanisms of development 25 12351182
2011 The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: an analysis using a new antibody. Brain research 22 21334315
2011 The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures. Neurology research international 21 21785725
1997 SEZ-6: promoter selectivity, genomic structure and localized expression in the brain. Brain research. Molecular brain research 19 9073173
2018 BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. PloS one 14 29979789
2018 Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H. Alzheimer's research & therapy 13 30309378
2021 ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European journal of human genetics : EJHG 12 34135477
2019 Sez6 levels are elevated in cerebrospinal fluid of patients with inflammatory pain-associated conditions. Pain reports 10 31041421
2009 Seizure-related gene 6 (Sez-6) in amacrine cells of the rodent retina and the consequence of gene deletion. PloS one 10 19662096
2024 Preclinical Characterization of Catabolic Pathways and Metabolism of ABBV-011, a Novel Calicheamicin-Based SEZ6-Targeting Antibody-Drug Conjugate. Drug metabolism and disposition: the biological fate of chemicals 5 38050039
2025 Detection of SEZ6, a Therapeutic Target, in Medullary Thyroid Carcinoma. The Journal of clinical endocrinology and metabolism 4 39324657
2025 Seizure-Related Homolog Protein 6 (SEZ6): Biology and Therapeutic Target in Neuroendocrine Carcinomas. Clinical cancer research : an official journal of the American Association for Cancer Research 4 40911432
2025 Expression of DLL3 and SEZ6 in the Spectrum of Neuroendocrine Neoplasia. Endocrine pathology 3 40699376
2015 N-Glycosylation modulates filopodia-like protrusions induced by sez-6 through regulating the distribution of this protein on the cell surface. Biochemical and biophysical research communications 3 25960298
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
2011 Sez-6 may play an important role in neurite outgrowth through the PKCgamma signaling pathways. Zeitschrift fur Naturforschung. C, Journal of biosciences 1 22351987
2026 SEZ6 expression and lineage plasticity in small cell lung cancer and transformed non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 0 41534317
2026 Novel ImmunoPET Probes [64Cu]Cu-NOTA-GGB02-F9 for Small-Cell Lung Cancer Derived from a SEZ6-Targeting Antibody. Journal of medicinal chemistry 0 41589586
2026 SEZ6-targeting antibody-drug conjugate ABBV-706 in advanced small cell lung cancer and solid tumors: a phase 1 trial. Nature medicine 0 42225988
2022 Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain. Biochemical and biophysical research communications 0 36368155

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