SNAP29
entrez
9342
canonical
uniprot
O95721
canonical
ensembl
ENSG00000099940
resolver
ensp
ENSP00000215730
resolver
ensp
ENSP00000551025
resolver
enst
ENST00000215730
resolver
enst
ENST00000880966
resolver
genesymbol
SNAP29
resolver
hgnc
HGNC:11133
resolver
uniprot_entry
SNP29_HUMAN
resolver
amino_acid_sequence
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTKVDKLDVNIKSTERKVRQL
uniprot
proteins
disease_involvement
DISEASE: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. {ECO:0000269|PubMed:15968592}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Also plays a role in ciliogenesis by regulating membrane fusions. {ECO:0000269|PubMed:23217709, ECO:0000269|PubMed:25686250, ECO:0000269|PubMed:25686604}.
uniprot
proteins
mass_dalton
28970
uniprot
proteins
protein_family
SNAP-25 family
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15968592
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23217709
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25686250
uniprot
proteins
pubmed
25686604
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27440922
uniprot
proteins
pubmed
31091447
uniprot
proteins
pubmed
31806350
uniprot
proteins
pubmed
33422265
uniprot
proteins
pubmed
37821429
uniprot
proteins
pubmed
9852078
uniprot
proteins
sequence_length
258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23217709}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9Z2P6}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:25686604}; Peripheral membrane protein {ECO:0000305}. Cell projection, cilium membrane {ECO:0000269|PubMed:25686250}; Peripheral membrane protein {ECO:0000305}. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic. Localizes to the ciliary pocket from where the cilium protrudes. {ECO:0000269|PubMed:23217709, ECO:0000269|PubMed:25686250}.
uniprot
proteins