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MGP003831

UniProt Annotations

Entry Information

Gene Name	VAMP (vesicle-associated membrane protein)-associated protein B and C
Protein Entry	VAPB_HUMAN
UniProt ID	O95292
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=VAP-B; IsoId=O95292-1; Sequence=Displayed; Name=2; Synonyms=VAP-C; IsoId=O95292-2; Sequence=VSP_003277, VSP_003278;
Disease	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:0000269\|PubMed:15372378, ECO:0000269\|PubMed:20940299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:15372378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation. {ECO:0000269\|PubMed:16891305, ECO:0000269\|PubMed:20940299, ECO:0000269\|PubMed:22131369}.
Interaction	Q03463:- (xeno); NbExp=2; IntAct=EBI-9350848, EBI-8803474; Q03137:Epha4 (xeno); NbExp=2; IntAct=EBI-1188298, EBI-1539152; Q9P0L0:VAPA; NbExp=2; IntAct=EBI-9350848, EBI-1059156; O95070:YIF1A; NbExp=9; IntAct=EBI-1188298, EBI-2799703; Q5T4F4:ZFYVE27; NbExp=2; IntAct=EBI-1188298, EBI-3892947;
Similarity	Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family. {ECO:0000305}.
Similarity	Contains 1 MSP domain. {ECO:0000255\|PROSITE- ProRule:PRU00132}.
Subcellular Location	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:0000269\|PubMed:22131369}.
Subunit	Homodimer, and heterodimer with VAPA. Interacts with VAMP1 and VAMP2. Interacts with HCV NS5A and NS5B. Interacts (via MSP domain) with ZFYVE27. Interacts with RMDN3. {ECO:0000269\|PubMed:16227268, ECO:0000269\|PubMed:19289470, ECO:0000269\|PubMed:22131369}.
Tissue Specificity	Ubiquitous. Isoform 1 predominates.
Web Resource	Name=Alsod; Note=ALS genetic mutations db; URL="http://alsod.iop.kcl.ac.uk/Als/";
Web Resource	Name=Mendelian genes VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/VAPB";