SNAP29
Synaptosomal-associated protein 29
Also known as: CEDNIK, SNAP-29, SNP29_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95721
- Gene
- SNAP29
- Ensembl
- ENSG00000099940
- Chromosome
- 22
- Canonical length
- 258 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Centrosome,Cytosol
OverviewNCBI Gene
This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
258 residues, UniProt reviewed canonical sequence.
>O95721|SNAP29
1 MSAYPKSYNP FDDDGEDEGA RPAPWRDARD LPDGPDAPAD RQQYLRQEVL RRAEATAAST
61 SRSLALMYES EKVGVASSEE LARQRGVLER TEKMVDKMDQ DLKISQKHIN SIKSVFGGLV
121 NYFKSKPVET PPEQNGTLTS QPNNRLKEAI STSKEQEAKY QASHPNLRKL DDTDPVPRGA
181 GSAMSTDAYP KNPHLRAYHQ KIDSNLDELS MGLGRLKDIA LGMQTEIEEQ DDILDRLTTK
241 VDKLDVNIKS TERKVRQLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNAP29 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)
- 0.45
- Highest tissue expression
- 54 nTPM
Expression across tissuesHPA
Tissue
- testis: 54 nTPM
- liver: 33 nTPM
- skeletal muscle: 29 nTPM
- tongue: 26 nTPM
- choroid plexus: 23 nTPM
- thymus: 23 nTPM
Single-cell type
- late primary spermatocytes: 489 nCPM
- early spermatids: 488 nCPM
- esophageal apical cells: 321 nCPM
- extravillous trophoblasts: 213 nCPM
- platelets: 212 nCPM
- late spermatids: 193 nCPM
Immune cell
- non-classical monocyte: 78 nTPM
- intermediate monocyte: 62 nTPM
- NK-cell: 60 nTPM
- eosinophil: 53 nTPM
- basophil: 49 nTPM
- neutrophil: 49 nTPM
Brain region
- cerebral cortex: 29 nTPM
- medulla oblongata: 23 nTPM
- cerebellum: 23 nTPM
- white matter: 22 nTPM
- hippocampal formation: 21 nTPM
- pons: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNAP29.
Disease | AllUniProt
Conditions SNAP29 is implicated in, by any mechanism.
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) MIM:609528
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 356 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- CEDNIK syndrome
- Hypomyelinating leukodystrophy 2
- Inborn genetic diseases
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)
- 0.86
- gnomAD pLI
- 0.01
- gnomAD missense Z
- -0.87
- DepMap mean gene effect
- -0.26
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome maturation
- autophagosome membrane docking
- cilium assembly
- exocytosis
- membrane fusion
- protein transport
- synaptic vesicle fusion to presynaptic active zone membrane
- synaptic vesicle priming
- vesicle targeting
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNAP29 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 SNAP29 as an antibody target. Whether an autoantibody or antibody against SNAP29 could matter depends on whether native SNAP29 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNAP29 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 SNAP29 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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