| 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 |
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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 | ||||
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| Cellular localization | Secreted | ||||
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| 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. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 19, 2008, 1:23 p.m. | by: |
hsueh email:
home page: |
| last update: | June 19, 2008, 1:24 p.m. | by: | hsueh email: |
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