VAPB

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VAPB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesVAPB, ALS8, VAMP-B, VAP-B, VAMP (vesicle-associated membrane protein)-associated protein B and C, VAMP associated protein B and C
External IDsMGI: 1928744 HomoloGene: 36163 GeneCards: VAPB
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for VAPB
Genomic location for VAPB
Band20q13.32Start58,389,122 bp[1]
End58,451,101 bp[1]
RNA expression pattern
PBB GE VAPB 202549 at fs.png

PBB GE VAPB 202550 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001195677
NM_004738

NM_019806

RefSeq (protein)

NP_001182606
NP_004729

NP_062780

Location (UCSC)Chr 20: 58.39 – 58.45 MbChr 2: 173.74 – 173.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vesicle-associated membrane protein-associated protein B/C is a protein that in humans is encoded by the VAPB gene.[5][6] The VAPB gene is found on the 20th human chromosome. Together with VAPA, it forms the VAP protein family.

Function[edit]

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.[6]

Like VAPA, VAPB binds to proteins that contain a FFAT motif.[7] 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).[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124164 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054455 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ a b "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".
  7. ^ 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.
  8. ^ 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[edit]