Biology:BCAP31

Short description: Protein-coding gene in humans

Generic protein structure example

B-cell receptor-associated protein 31 is a protein that in humans is encoded by the BCAP31 gene.

Interactions

BCAP31 has been shown to interact with:

• APP,
• BCL2L1,
• BCL2,
• CASP8, and

BCAP31-related disorders

The BCAP31 (B-Cell-Associated Protein 31) gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. As the gene is located on the X-chromosome, these disorders primarily affect males.  Patients commonly present with a congenital neurological phenotype characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Most patients with a Loss of Function pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.

BCAP31.org is a resource started by parents of a child with a BCAP31-related disorder diagnosis which aims support families affected by the BCAP31 gene variant, clinicians treating patients, and researchers pursuing treatments by collaboration or funding efforts.

Further reading

• "A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene". Genomics 22 (2): 469–471. July 1994. doi:10.1006/geno.1994.1413. PMID 7806238. 
• "The cloning and expression of a human creatine transporter". Biochemical and Biophysical Research Communications 204 (1): 419–427. October 1994. doi:10.1006/bbrc.1994.2475. PMID 7945388. Bibcode: 1994BBRC..204..419S. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence". The EMBO Journal 15 (7): 1534–1541. April 1996. doi:10.1002/j.1460-2075.1996.tb00497.x. PMID 8612576. 
• "Molecular cloning and characterization of a transmembrane surface antigen in human cells". European Journal of Biochemistry 238 (3): 631–638. June 1996. doi:10.1111/j.1432-1033.1996.0631w.x. PMID 8706661. 
• "Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse". Genomics 44 (1): 8–14. August 1997. doi:10.1006/geno.1997.4822. PMID 9286695. 
• "p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in the endoplasmic reticulum". The Journal of Cell Biology 139 (2): 327–338. October 1997. doi:10.1083/jcb.139.2.327. PMID 9334338. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31". The Journal of Cell Biology 139 (6): 1397–1410. December 1997. doi:10.1083/jcb.139.6.1397. PMID 9396746. 
• "Caspase-resistant BAP31 inhibits fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria". Molecular and Cellular Biology 20 (18): 6731–6740. September 2000. doi:10.1128/MCB.20.18.6731-6740.2000. PMID 10958671. 
• "Proteomics characterization of abundant Golgi membrane proteins". The Journal of Biological Chemistry 276 (7): 5152–5165. February 2001. doi:10.1074/jbc.M006143200. PMID 11042173. 
• "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–1795. November 2000. doi:10.1101/gr.143000. PMID 11076863. 
• "Selective export of MHC class I molecules from the ER after their dissociation from TAP". Immunity 13 (6): 841–851. December 2000. doi:10.1016/S1074-7613(00)00081-9. PMID 11163199. 
• "Endoplasmic reticulum membrane-sorting protein of lymphocytes (BAP31) is highly expressed in neurons and discrete endocrine cells". The Journal of Histochemistry and Cytochemistry 49 (10): 1235–1243. October 2001. doi:10.1177/002215540104901005. PMID 11561007. 
• "Calnexin deficiency and endoplasmic reticulum stress-induced apoptosis". Biochemistry 41 (8): 2850–2858. February 2002. doi:10.1021/bi015967+. PMID 11851433. 
• "The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum". Proceedings of the National Academy of Sciences of the United States of America 99 (7): 4331–4336. April 2002. doi:10.1073/pnas.072088099. PMID 11917123. Bibcode: 2002PNAS...99.4331B. 
• "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders". American Journal of Human Genetics 70 (6): 1520–1531. June 2002. doi:10.1086/340849. PMID 11992258. 
• "Uncleaved BAP31 in association with A4 protein at the endoplasmic reticulum is an inhibitor of Fas-initiated release of cytochrome c from mitochondria". The Journal of Biological Chemistry 278 (16): 14461–14468. April 2003. doi:10.1074/jbc.M209684200. PMID 12529377. 
• "Spike, a novel BH3-only protein, regulates apoptosis at the endoplasmic reticulum". FASEB Journal 17 (6): 696–698. April 2003. doi:10.1096/fj.02-0657fje. PMID 12594175. 

External links

• BCAP31 human gene location in the UCSC Genome Browser.
• BCAP31 human gene details in the UCSC Genome Browser.