VAPB_HUMAN
Source:
hRBCD
; ID:
IPI00006211
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
VAPB
, UNQ484/PRO983
Protein names and data:
VAPB_HUMAN
, Vesicle-associated membrane protein-associated protein B/C; VAMP-B/VAMP-C; VAMP-associated protein B/C; VAP-B/VAP-C
Lenght: 243 a.a.
Mass: 27228 Da
fasta formatted sequence
Function:
Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.
Disease:
( OMIM:
182980
605704
608627
)
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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Endoplasmic reticulum membrane; Single-pass type IV membrane protein (By similarity). Note=Present in mitochondria-associated membranes that are endoplasmic reticulum membrane regions closely apposed to the outer mitochondrial membrane.
Tissue specificity:
Ubiquitous. Isoform 1 predominates.
Genetic variants
46 - 46
T -> I (in ALS8; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway through ERN1/IRE1 induction; results in ubiquitinated aggregates accumulation and cell death; dbSNP:rs281875284). VAR_067964
281875284
56 - 56
P -> S (in ALS8 and SMAPAD; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway; affects interaction with RMDN3; affects cellular calcium homeostasis; dbSNP:rs74315431). VAR_026743
74315431
Database cross-references
UniProt:
O95292
Ensembl:
ENST00000395802
Ensembl:
ENST00000475243
MIM:
182980
MIM:
605704
MIM:
608627
neXtProt:
NX_O95292
Antibodypedia:
O95292
(may not find the protein thus also not any antibody)
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