Seroatlas · Human Serome Atlas

STXBP1

Syntaxin-binding protein 1

Also known as: hUNC18, MUNC18-1, nSec1, rbSec1, STXB1_HUMAN, UNC18

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

Protein identityUniProt · HPA

UniProt accession
P61764
Gene
STXBP1
Ensembl
ENSG00000136854
Chromosome
9
Canonical length
594 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

594 residues, UniProt reviewed canonical sequence.

>P61764|STXBP1
     1  MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI MTEGITIVED
    61  INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR AAHVFFTDSC PDALFNELVK
   121  SRAAKVIKTL TEINIAFLPY ESQVYSLDSA DSFQSFYSPH KAQMKNPILE RLAEQIATLC
   181  ATLKEYPAVR YRGEYKDNAL LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS
   241  SPVLHELTFQ AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS
   301  QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL AEDCMKHYQG
   361  TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS TYDKIRIILL YIFLKNGITE
   421  ENLNKLIQHA QIPPEDSEII TNMAHLGVPI VTDSTLRRRS KPERKERISE QTYQLSRWTP
   481  IIKDIMEDTI EDKLDTKHYP YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF
   541  ILGGVSLNEM RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STXBP1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
252 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 252 nTPM
  • cerebral cortex: 226 nTPM
  • retina: 188 nTPM
  • basal ganglia: 78 nTPM
  • hypothalamus: 73 nTPM
  • pituitary gland: 60 nTPM

Single-cell type

  • somatotrophs: 465 nCPM
  • rod photoreceptor cells: 458 nCPM
  • lactotrophs: 383 nCPM
  • gonadotrophs: 315 nCPM
  • brain excitatory neurons: 304 nCPM
  • thyrotrophs: 295 nCPM

Immune cell

  • memory CD8 T-cell: 0.9 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • naive CD8 T-cell: 0.4 nTPM
  • naive CD4 T-cell: 0.3 nTPM
  • gdT-cell: 0.2 nTPM
  • total PBMC: 0.2 nTPM

Brain region

  • cerebral cortex: 786 nTPM
  • white matter: 475 nTPM
  • pons: 468 nTPM
  • cerebellum: 458 nTPM
  • basal ganglia: 407 nTPM
  • hippocampal formation: 393 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STXBP1.

Disease | AllUniProt

Conditions STXBP1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 4 (DEE4) MIM:612164

Disease | GeneticClinVar

408 pathogenic / likely-pathogenic of 1,279 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.09
gnomAD pLI
1
gnomAD missense Z
4.26
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STXBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads STXBP1 as an antibody target. Whether an autoantibody or antibody against STXBP1 could matter depends on whether native STXBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STXBP1 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 STXBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/STXBP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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