VAPB

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.

VAPB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MDK, 3IKK
Identifiers
Aliases	VAPB, ALS8, VAMP-B, VAP-B, VAMP (vesicle-associated membrane protein)-associated protein B and C, VAMP associated protein B and C
External IDs	OMIM: 605704; MGI: 1928744; HomoloGene: 36163; GeneCards: VAPB; OMA:VAPB - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.32 Start 58,389,229 bp[1] End 58,451,101 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 97.37 cM Start 173,579,304 bp[2] End 173,626,132 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus postcentral gyrus pons superior frontal gyrus Skeletal muscle tissue of rectus abdominis entorhinal cortex secondary oocyte biceps brachii Top expressed in muscle of thigh lacrimal gland stroma of bone marrow submandibular gland dorsomedial hypothalamic nucleus digastric muscle transitional epithelium of urinary bladder motor neuron Rostral migratory stream substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity microtubule binding protein binding beta-tubulin binding protein heterodimerization activity enzyme binding cadherin binding FFAT motif binding Cellular component integral component of membrane Golgi apparatus endoplasmic reticulum membrane membrane endoplasmic reticulum endoplasmic reticulum exit site Golgi membrane cytoplasm Biological process COPII-coated vesicle budding cellular calcium ion homeostasis sphingolipid biosynthetic process endoplasmic reticulum organization positive regulation by host of viral genome replication endoplasmic reticulum unfolded protein response endoplasmic reticulum to Golgi vesicle-mediated transport response to unfolded protein suppression of viral release by host negative regulation by host of viral genome replication positive regulation of viral genome replication negative regulation by virus of viral protein levels in host cell viral process modulation by host of viral RNA genome replication IRE1-mediated unfolded protein response Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9217 56491 Ensembl ENSG00000124164 ENSMUSG00000054455 UniProt O95292 Q9QY76 Q8BH80 RefSeq (mRNA) NM_001195677 NM_004738 NM_019806 RefSeq (protein) NP_001182606 NP_004729 NP_062780 Location (UCSC) Chr 20: 58.39 – 58.45 Mb Chr 2: 173.58 – 173.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.^[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 neuron disease (also called amyotrophic lateral sclerosis and Lou Gehrig's disease).^[8]