InnateDB Protein
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IDBP-238810.7
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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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VAPB
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Protein Name
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VAMP (vesicle-associated membrane protein)-associated protein B and C
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Synonyms
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ALS8; VAMP-B; VAP-B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379147
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InnateDB Gene
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IDBG-82596 (VAPB)
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Protein Structure
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Function |
Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation. {ECO:0000269PubMed:16891305, ECO:0000269PubMed:20940299, ECO:0000269PubMed:22131369}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Present in mitochondria-associated membranes that are endoplasmic reticulum membrane regions closely apposed to the outer mitochondrial membrane. {ECO:0000269PubMed:22131369}.
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Disease Associations |
Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:15372378, ECO:0000269PubMed:20940299}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. {ECO:0000269PubMed:15372378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Isoform 1 predominates.
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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 71 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
71
[view]
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Protein-Protein |
70
[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 |
GO:0006665
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sphingolipid metabolic process
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GO:0006874
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cellular calcium ion homeostasis
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GO:0006987
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activation of signaling protein activity involved in unfolded protein response
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GO:0008219
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cell death
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GO:0019048
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modulation by virus of host morphology or physiology
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GO:0030148
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sphingolipid biosynthetic process
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GO:0030968
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endoplasmic reticulum unfolded protein response
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GO:0044281
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small molecule metabolic process
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GO:0045070
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positive regulation of viral genome replication
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Cellular Component |
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PDB ID |
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InterPro |
IPR000535
MSP domain
IPR008962
PapD-like
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PFAM |
PF00635
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95292
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PhosphoSite |
PhosphoSite-O95292
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TrEMBL |
Q59EZ6
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UniProt Splice Variant |
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Entrez Gene |
9217
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UniGene |
Hs.732472
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RefSeq |
NP_001182606
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HUGO |
HGNC:12649
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OMIM |
605704
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CCDS |
CCDS56198
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HPRD |
09300
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IMGT |
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EMBL |
AB209665
AF086628
AF086629
AF160212
AL035455
AY358464
BC001712
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GenPept |
AAD13577
AAD13578
AAF67013
AAH01712
AAQ88829
BAD92902
CAC15021
CAM27023
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