InnateDB Protein
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IDBP-1816.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SNAP29
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Protein Name
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synaptosomal-associated protein, 29kDa
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Synonyms
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CEDNIK; SNAP-29;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000215730
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InnateDB Gene
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IDBG-1814 (SNAP29)
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Protein Structure
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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. Probably involved in multiple membrane trafficking steps. {ECO:0000269PubMed:23217709}.
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Subcellular Localization |
Cytoplasm. Membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic.
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Disease Associations |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. {ECO:0000269PubMed:15968592}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
30
[view]
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Protein-Protein |
29
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000727
Target SNARE coiled-coil domain
IPR000928
SNAP-25
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PFAM |
PF05739
PF00835
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PRINTS |
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PIRSF |
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SMART |
SM00397
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TIGRFAMs |
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Modification |
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SwissProt |
O95721
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PhosphoSite |
PhosphoSite-O95721
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TrEMBL |
C9JAF7
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UniProt Splice Variant |
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Entrez Gene |
9342
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UniGene |
Hs.701035
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RefSeq |
NP_004773
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HUGO |
HGNC:11133
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OMIM |
604202
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CCDS |
CCDS13784
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HPRD |
11968
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IMGT |
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EMBL |
AC007308
AF115436
AF278704
BC009715
BT007357
CR456582
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GenPept |
AAD11436
AAF91421
AAH09715
AAP36021
CAG30468
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