BCAP31

Template:Short description Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox 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

• Mosser J, Sarde CO, Vicaire S, Yates JR, Mandel JL (July 1994). "A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene". Genomics. 22 (2): 469–471. doi:10.1006/geno.1994.1413. PMID 7806238.
• Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, et al. (October 1994). "The cloning and expression of a human creatine transporter". Biochemical and Biophysical Research Communications. 204 (1): 419–427. Bibcode:1994BBRC..204..419S. doi:10.1006/bbrc.1994.2475. PMID 7945388.
• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Adachi T, Schamel WW, Kim KM, Watanabe T, Becker B, Nielsen PJ, Reth M (April 1996). "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. doi:10.1002/j.1460-2075.1996.tb00497.x. PMC 450061. PMID 8612576.
• Li E, Bestagno M, Burrone O (June 1996). "Molecular cloning and characterization of a transmembrane surface antigen in human cells". European Journal of Biochemistry. 238 (3): 631–638. doi:10.1111/j.1432-1033.1996.0631w.x. PMID 8706661.
• Brenner V, Nyakatura G, Rosenthal A, Platzer M (August 1997). "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. doi:10.1006/geno.1997.4822. PMID 9286695.
• Ng FW, Nguyen M, Kwan T, Branton PE, Nicholson DW, Cromlish JA, Shore GC (October 1997). "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. doi:10.1083/jcb.139.2.327. PMC 2139787. PMID 9334338.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Annaert WG, Becker B, Kistner U, Reth M, Jahn R (December 1997). "Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31". The Journal of Cell Biology. 139 (6): 1397–1410. doi:10.1083/jcb.139.6.1397. PMC 2132629. PMID 9396746.
• Nguyen M, Breckenridge DG, Ducret A, Shore GC (September 2000). "Caspase-resistant BAP31 inhibits fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria". Molecular and Cellular Biology. 20 (18): 6731–6740. doi:10.1128/MCB.20.18.6731-6740.2000. PMC 86192. PMID 10958671.
• Bell AW, Ward MA, Blackstock WP, Freeman HN, Choudhary JS, Lewis AP, et al. (February 2001). "Proteomics characterization of abundant Golgi membrane proteins". The Journal of Biological Chemistry. 276 (7): 5152–5165. doi:10.1074/jbc.M006143200. PMID 11042173.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Spiliotis ET, Manley H, Osorio M, Zúñiga MC, Edidin M (December 2000). "Selective export of MHC class I molecules from the ER after their dissociation from TAP". Immunity. 13 (6): 841–851. doi:10.1016/S1074-7613(00)00081-9. PMID 11163199.
• Manley HA, Lennon VA (October 2001). "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. doi:10.1177/002215540104901005. PMID 11561007.
• Zuppini A, Groenendyk J, Cormack LA, Shore G, Opas M, Bleackley RC, Michalak M (February 2002). "Calnexin deficiency and endoplasmic reticulum stress-induced apoptosis". Biochemistry. 41 (8): 2850–2858. doi:10.1021/bi015967+. PMID 11851433.
• Breckenridge DG, Nguyen M, Kuppig S, Reth M, Shore GC (April 2002). "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. Bibcode:2002PNAS...99.4331B. doi:10.1073/pnas.072088099. PMC 123648. PMID 11917123.
• Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, et al. (June 2002). "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. doi:10.1086/340849. PMC 419992. PMID 11992258.
• Wang B, Nguyen M, Breckenridge DG, Stojanovic M, Clemons PA, Kuppig S, Shore GC (April 2003). "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. doi:10.1074/jbc.M209684200. PMID 12529377.
• Mund T, Gewies A, Schoenfeld N, Bauer MK, Grimm S (April 2003). "Spike, a novel BH3-only protein, regulates apoptosis at the endoplasmic reticulum". FASEB Journal. 17 (6): 696–698. doi:10.1096/fj.02-0657fje. PMID 12594175. S2CID 24576178.

External links

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