VAPB

Jump to: navigation, search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. Together with VAPA, it forms the VAP protein family.

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. 2.0 2.1 "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



Linked-in.jpg