Seroatlas · Human Serome Atlas

SNAPIN

SNARE-associated protein Snapin

Also known as: BLOC1S7, BORCS3, SNAPAP, SNAPN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O95295
Gene
SNAPIN
Ensembl
ENSG00000143553
Chromosome
1
Canonical length
136 aa
Protein class
Predicted intracellular proteins, Transporters
Subcellular location
Nucleoli,Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

136 residues, UniProt reviewed canonical sequence.

>O95295|SNAPIN
     1  MAGAGSAAVS GAGTPVAGPT GRDLFAEGLL EFLRPAVQQL DSHVHAVRES QVELREQIDN
    61  LATELCRINE DQKVALDLDP YVKKLLNARR RVVLVNNILQ NAQERLRRLN HSVAKETARR
   121  RAMLDSGIYP PGSPGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SNAPIN 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
0
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
86 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 86 nTPM
  • tongue: 72 nTPM
  • heart muscle: 65 nTPM
  • adrenal gland: 50 nTPM
  • kidney: 39 nTPM
  • parathyroid gland: 39 nTPM

Single-cell type

  • oocytes: 152 nCPM
  • esophageal apical cells: 126 nCPM
  • hofbauer cells: 120 nCPM
  • esophageal suprabasal cells: 116 nCPM
  • megakaryocytes: 111 nCPM
  • esophageal basal cells: 94 nCPM

Immune cell

  • intermediate monocyte: 154 nTPM
  • myeloid DC: 154 nTPM
  • classical monocyte: 147 nTPM
  • total PBMC: 147 nTPM
  • eosinophil: 140 nTPM
  • T-reg: 137 nTPM

Brain region

  • white matter: 33 nTPM
  • spinal cord: 32 nTPM
  • cerebellum: 31 nTPM
  • hypothalamus: 29 nTPM
  • thalamus: 29 nTPM
  • medulla oblongata: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SNAPIN.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 22 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • See cases
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
  • Abnormal brain morphology

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)
1.44
gnomAD pLI
0
gnomAD missense Z
0.88
DepMap mean gene effect
-0.31
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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 SNAPIN 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 SNAPIN as an antibody target. Whether an autoantibody or antibody against SNAPIN could matter depends on whether native SNAPIN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

Canonical record: https://seroatlas.com/gene/SNAPIN. 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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