VAPB

VAMP (vesicle-associated membrane protein)-associated protein B and C
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols VAPB ; ALS8; VAMP-B; VAP-B
External IDs OMIM: 605704 MGI: 1928744 HomoloGene: 36163 GeneCards: VAPB Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 9217 56491
Ensembl ENSG00000124164 ENSMUSG00000054455
UniProt O95292 Q9QY76
RefSeq (mRNA) NM_001195677 NM_019806
RefSeq (protein) NP_001182606 NP_062780
Location (UCSC) Chr 20:
58.39 – 58.45 Mb
Chr 2:
173.74 – 173.78 Mb
PubMed search

Vesicle-associated membrane protein-associated protein B/C is a protein that in humans is encoded by the VAPB gene.[1][2] The VAPB gene is found on the 20th human chromosome.

Function

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.[2]

Like VAPA, VAPB binds to proteins that contain a FFAT motif.[3] Considerable interest in VAPB has arisen because mutations in this protein are associated with rare, familial forms of Motor Neurone Disease (also called Amyotrophic Lateral Sclerosis and Lou Gehrig's disease).[4]

References

  1. ↑ Nishimura Y, Hayashi M, Inada H, Tanaka T (Jan 1999). "Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins". Biochemical and Biophysical Research Communications 254 (1): 21–6. doi:10.1006/bbrc.1998.9876. PMID 9920726.
  2. 1 2 "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".
  3. ↑ Loewen CJ, Roy A, Levine TP (May 2003). "A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP". The EMBO Journal 22 (9): 2025–35. doi:10.1093/emboj/cdg201. PMC 156073. PMID 12727870.
  4. ↑ Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (Nov 2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics 75 (5): 822–31. doi:10.1086/425287. PMC 1182111. PMID 15372378.

Further reading


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