Seroatlas · Human Serome Atlas

SEZ6L

Seizure 6-like protein

Also known as: SE6L1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BYH1
Gene: SEZ6L
Ensembl: ENSG00000100095
Chromosome: 22
Canonical length: 1024 aa
Protein class: Predicted membrane proteins
Subcellular location: Vesicles

OverviewNCBI Gene

Predicted to be involved in synapse maturation. Predicted to act upstream of or within activation of protein kinase C activity; adult locomotory behavior; and cerebellar Purkinje cell layer development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including glutamatergic synapse; neuronal cell body; and postsynaptic membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1024 residues, UniProt reviewed canonical sequence.

>Q9BYH1|SEZ6L
     1  MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
    61  HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
   121  SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
   181  EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
   241  ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
   301  PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
   361  RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
   421  LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
   481  WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
   541  RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
   601  EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
   661  GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
   721  PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
   781  GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
   841  EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
   901  CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA
   961  IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY
  1021  EVSI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEZ6L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 46 nTPM
hippocampal formation: 32 nTPM
hypothalamus: 32 nTPM
cerebellum: 26 nTPM
amygdala: 22 nTPM
midbrain: 14 nTPM

Single-cell type

oligodendrocyte progenitor cells: 850 nCPM
brain excitatory neurons: 325 nCPM
other brain neurons: 238 nCPM
gonadotrophs: 213 nCPM
adrenal medulla cells: 202 nCPM
pancreatic islet cells: 183 nCPM

Immune cell

intermediate monocyte: 5.9 nTPM
myeloid DC: 5.7 nTPM
non-classical monocyte: 5.4 nTPM
classical monocyte: 0.8 nTPM
total PBMC: 0.5 nTPM
basophil: 0 nTPM

Brain region

hippocampal formation: 183 nTPM
hypothalamus: 168 nTPM
cerebral cortex: 161 nTPM
thalamus: 160 nTPM
basal ganglia: 133 nTPM
midbrain: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEZ6L.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.37
gnomAD pLI: 0.51
gnomAD missense Z: 1.47
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SEZ6L as an antibody target. Whether an autoantibody or antibody against SEZ6L could matter depends on whether native SEZ6L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEZ6L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SEZ6L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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