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HPMR

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Vesicle-associated Membrane Protein-associated Protein B OKDB#: 3798
 Symbols: VAPB Species: human
 Synonyms: ALS8, VAP-B, VAP-C, VAMP-B, VAMP-C,VAMP-ASSOCIATED PROTEIN B|VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN C, INCLUDED, VAPC, INCLUDED|VAMP-ASSOCIATED PROTEIN C, INCLUDED  Locus: 20q13.33 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking.
General function Ligand, Growth factor
Comment
Cellular localization Secreted
Comment
Ovarian function Oocyte maturation
Comment The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Tsuda H et al. VAP proteins (human VAPB/ALS8, Drosophila VAP33, and C. elegans VPR-1) are homologous proteins with an amino-terminal major sperm protein (MSP) domain and a transmembrane domain. The MSP domain is named for its similarity to the C. elegans MSP protein, a sperm-derived hormone that binds to the Eph receptor and induces oocyte maturation. A point mutation (P56S) in the MSP domain of human VAPB is associated with Amyotrophic lateral sclerosis (ALS), but the mechanisms underlying the pathogenesis are poorly understood. Here we show that the MSP domains of VAP proteins are cleaved and secreted ligands for Eph receptors. The P58S mutation in VAP33 leads to a failure to secrete the MSP domain as well as ubiquitination, accumulation of inclusions in the endoplasmic reticulum, and an unfolded protein response. We propose that VAP MSP domains are secreted and act as diffusible hormones for Eph receptors. This work provides insight into mechanisms that may impact the pathogenesis of ALS.
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: June 19, 2008, 1:23 p.m. by: hsueh   email:
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last update: June 19, 2008, 1:24 p.m. by: hsueh    email:



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