.. _BCAP31: BCAP31 ^^^^^^ .. contents:: :local: 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 | +-----------+---------------+------------+ .. _BCAP31 Gene summary: 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 ID 300398 : http://omim.org/entry/300398 .. _BCAP31 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 300398 `_ .. _BCAP31 Phenotype: NCBI Phenotypes *************** No phenotypes found linked to this gene. .. _BCAP31 GO Term: 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 .. _BCAP31 Pathway: KEGG Pathways ************* * `Protein processing in endoplasmic reticulum `_ .. _BCAP31 GeneRIF: 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`_] .. _PMID 17056546: http://www.ncbi.nlm.nih.gov/pubmed/17056546 .. _PMID 12886015: http://www.ncbi.nlm.nih.gov/pubmed/12886015 .. _PMID 15294914: http://www.ncbi.nlm.nih.gov/pubmed/15294914 .. _PMID 9396746: http://www.ncbi.nlm.nih.gov/pubmed/9396746 .. _PMID 21183955: http://www.ncbi.nlm.nih.gov/pubmed/21183955 .. _PMID 10958671: http://www.ncbi.nlm.nih.gov/pubmed/10958671 .. _PMID 18287538: http://www.ncbi.nlm.nih.gov/pubmed/18287538 .. _PMID 17558393: http://www.ncbi.nlm.nih.gov/pubmed/17558393 .. _PMID 9334338: http://www.ncbi.nlm.nih.gov/pubmed/9334338 .. _PMID 21151997: http://www.ncbi.nlm.nih.gov/pubmed/21151997 .. _PMID 15161933: http://www.ncbi.nlm.nih.gov/pubmed/15161933 .. _PMID 16858427: http://www.ncbi.nlm.nih.gov/pubmed/16858427 .. _PMID 21963094: http://www.ncbi.nlm.nih.gov/pubmed/21963094 .. _PMID 20360068: http://www.ncbi.nlm.nih.gov/pubmed/20360068 .. _PMID 15024066: http://www.ncbi.nlm.nih.gov/pubmed/15024066 .. _PMID 18555783: http://www.ncbi.nlm.nih.gov/pubmed/18555783 .. _PMID 11992258: http://www.ncbi.nlm.nih.gov/pubmed/11992258 .. _PMID 18684816: http://www.ncbi.nlm.nih.gov/pubmed/18684816 .. _PMID 21947079: http://www.ncbi.nlm.nih.gov/pubmed/21947079 .. _PMID 12668660: http://www.ncbi.nlm.nih.gov/pubmed/12668660 .. _PMID 15254227: http://www.ncbi.nlm.nih.gov/pubmed/15254227 .. _BCAP31 Pubmed: 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`_ .. _PMID 21890473: http://www.ncbi.nlm.nih.gov/pubmed/21890473 .. _PMID 21183955: http://www.ncbi.nlm.nih.gov/pubmed/21183955 .. _PMID 21527846: http://www.ncbi.nlm.nih.gov/pubmed/21527846 .. _PMID 21151997: http://www.ncbi.nlm.nih.gov/pubmed/21151997 .. _PMID 21963094: http://www.ncbi.nlm.nih.gov/pubmed/21963094 .. _PMID 22182703: http://www.ncbi.nlm.nih.gov/pubmed/22182703 .. _PMID 21285974: http://www.ncbi.nlm.nih.gov/pubmed/21285974 .. _PMID 21947079: http://www.ncbi.nlm.nih.gov/pubmed/21947079 .. _PMID 21906983: http://www.ncbi.nlm.nih.gov/pubmed/21906983 .. _PMID 22056873: http://www.ncbi.nlm.nih.gov/pubmed/22056873 *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`_ .. _PMID 17087731: http://www.ncbi.nlm.nih.gov/pubmed/17087731