BCAP31

General Information

Full gene name:B-cell receptor-associated protein 31 Entrez Gene ID:10134 Location:Xq28 Synonyms:BAP31, CDM, DXS1357E, 6C6-AG Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs3020789	72960	downstream

NCBI Summary

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

OMIM

OMIM ID:`OMIM ID 300398 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

• lipid particle
• cytosol
• antigen processing and presentation of peptide antigen via MHC class I
• vesicle-mediated transport
• elevation of mitochondrial calcium ion concentration
• reduction of endoplasmic reticulum calcium ion concentration
• protein binding
• endoplasmic reticulum
• calcium-mediated signaling using intracellular calcium source
• integral to plasma membrane
• endoplasmic reticulum membrane
• elevation of cytosolic calcium ion concentration
• integral to lumenal side of endoplasmic reticulum membrane
• immune response
• positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
• positive regulation of intrinsic apoptotic signaling pathway
• receptor binding
• apoptotic process
• Golgi membrane
• endoplasmic reticulum-Golgi intermediate compartment membrane
• cellular component disassembly involved in apoptotic process
• intracellular protein transport

KEGG Pathways

• Protein processing in endoplasmic reticulum

GeneRIFs

• Bap31 performs quality control on class I molecules in two distinct phases: by exporting peptide-loaded class I molecules to the ER/Golgi, and by retrieving class I molecules that have lost peptides in the acidic post-ER environment. [PMID 17056546]
• Affinity Capture-Western [PMID 12886015]
• Affinity Capture-Western [PMID 12886015]
• BAP31 may play a role in regulating intracellular trafficking of CD11b/CD18 in neutrophils [PMID 15294914]
• Affinity Capture-Western; Reconstituted Complex [PMID 9396746]
• Reconstituted Complex [PMID 9396746]
• Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction. [PMID 21183955]
• Affinity Capture-Western [PMID 10958671]
• Affinity Capture-Western [PMID 10958671]
• Bap31 is a component of the endoplasmic reticulum (ER) quality control compartment and that it moves between the peripheral ER and a juxtanuclear ER or ER-related compartment distinct from the conventional ER-Golgi intermediate compartment. [PMID 18287538]
• Affinity Capture-MS [PMID 17558393]
• Affinity Capture-Western; Biochemical Activity; Reconstituted Complex [PMID 9334338]
• Biochemical Activity [PMID 9334338]
• Affinity Capture-Western; Reconstituted Complex [PMID 9334338]
• Affinity Capture-Western; Reconstituted Complex [PMID 9334338]
• Membrane-Associated RING-CH proteins MARCH VIII and MARCH IV associate with Bap31 and target CD81 and CD44 to lysosomes [PMID 21151997]
• Affinity Capture-MS [PMID 15161933]
• We have characterized a molecular mechanism by which calnexin regulates ER-stress-mediated apoptosis in a manner independent of its chaperone functions but dependent of its binding to Bap31. [PMID 16858427]
• Affinity Capture-MS [PMID 21963094]
• Affinity Capture-MS [PMID 20360068]
• Data describe a novel human member of the protein tyrosine phosphatase-like B (PTPLB) family, an integral protein of the endoplasmic reticulum membrane, as a BAP31-interacting protein. [PMID 15024066]
• BAP31 interacts with PTPLB. [PMID 15024066]
• BAP31 associates with the N terminus of one of its newly synthesized client proteins, the DeltaF508 mutant of CFTR, and promotes its retrotranslocation from the endoplasmic reticulum and degradation by the cytoplasmic 26S proteasome system. [PMID 18555783]
• Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. [PMID 11992258]
• Results identify B-cell-associated protein 31 as a novel binding partner of the high-risk human papillomavirus 16 E5 proteins and provide insight into how the E5 proteins may modulate the life cycle in differentiating cells. [PMID 18684816]
• BAP31 and BiP are essential for dislocation of SV40 from the endoplasmic reticulum to the cytosol. [PMID 21947079]
• CASP8 cleavage product of BAP31 induces mitochondrial fission through endoplasmic reticulum calcium signals, enhancing cytochrome c release to the cytosol. [PMID 12668660]
• Cleavage of BAP31 leads to the generation of ER- localized, proapoptotic BAP20, which may mediate mitochondrion-ER cross talk through a Ca(2+)-dependent mechanism [PMID 15254227]

PubMed Articles

Recent articles:

• Gajate C et al. “Antitumor alkyl-lysophospholipid analog edelfosine induces apoptosis in pancreatic cancer by targeting endoplasmic reticulum.” Oncogene. 2012 May 24;31(21):2627-39. PMID 22056873
• Grimm S et al. “The ER-mitochondria interface: the social network of cell death.” Biochim Biophys Acta. 2012 Feb;1823(2):327-34. PMID 22182703
• Kim W et al. “Systematic and quantitative assessment of the ubiquitin-modified proteome.” Mol Cell. 2011 Oct 21;44(2):325-40. PMID 21906983
• Emanuele MJ et al. “Global identification of modular cullin-RING ligase substrates.” Cell. 2011 Oct 14;147(2):459-74. PMID 21963094
• Wagner SA et al. “A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles.” Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. PMID 21890473
• Geiger R et al. “BAP31 and BiP are essential for dislocation of SV40 from the endoplasmic reticulum to the cytosol.” Nat Cell Biol. 2011 Sep 25;13(11):1305-14. PMID 21947079
• Burgeiro A et al. “Involvement of mitochondrial and B-RAF/ERK signaling pathways in berberine-induced apoptosis in human melanoma cells.” Anticancer Drugs. 2011 Jul;22(6):507-18. PMID 21527846
• Iwasawa R et al. “Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction.” EMBO J. 2011 Feb 2;30(3):556-68. PMID 21183955
• Wang B et al. “Fis1, Bap31 and the kiss of death between mitochondria and endoplasmic reticulum.” EMBO J. 2011 Feb 2;30(3):451-2. PMID 21285974
• Bartee E et al. “Membrane-Associated RING-CH proteins associate with Bap31 and target CD81 and CD44 to lysosomes.” PLoS One. 2010 Dec 2;5(12):e15132. PMID 21151997

Top Pubmed articles linked to gene BCAP31 matching any search term:

• Fortier A et al. “Birc1e/Naip5 rapidly antagonizes modulation of phagosome maturation by Legionella pneumophila.” Cell Microbiol. 2007 Apr;9(4):910-23. PMID 17087731