BCAP31 explained

B-cell receptor-associated protein 31 is a protein that in humans is encoded by the BCAP31 gene.^[1]

Interactions

BCAP31 has been shown to interact with:

• APP,^[2]
• BCL2L1,
• BCL2,
• CASP8,^[3] 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.^[4]

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

Notes and References

1. Web site: Entrez Gene: BCAP31 B-cell receptor-associated protein 31.
2. Wang B, Nguyen M, Breckenridge DG, Stojanovic M, Clemons PA, Kuppig S, Shore GC . 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 . 12529377 . 10.1074/jbc.M209684200 . free .
3. Ng FW, Nguyen M, Kwan T, Branton PE, Nicholson DW, Cromlish JA, Shore GC . 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 . 9334338 . 2139787 . 10.1083/jcb.139.2.327 .
4. Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L . 6 . Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants . European Journal of Human Genetics . 29 . 9 . 1405–1417 . September 2021 . 33603160 . 10.1038/s41431-021-00821-0 . 8440520 . free .