InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VAPB

Summary

InnateDB Protein

IDBP-479641.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VAPB

Protein Name

VAMP (vesicle-associated membrane protein)-associated protein B and C

Synonyms

ALS8; VAMP-B; VAP-B;

Species

Homo sapiens

Ensembl Protein

ENSP00000417175

InnateDB Gene

IDBG-82596 (VAPB)

Protein Structure

UniProt Annotation

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}.

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}.

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.

Tissue Specificity

Ubiquitous. Isoform 1 predominates.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.

Experimentally validated
Total	71 [view]
Protein-Protein	70 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0048487	beta-tubulin binding

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006874	cellular calcium ion homeostasis
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0008219	cell death
GO:0019048	modulation by virus of host morphology or physiology
GO:0030148	sphingolipid biosynthetic process
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0044281	small molecule metabolic process
GO:0045070	positive regulation of viral genome replication