BCAP31

BCAP31
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4JZL, 4JZP
Identifiers
Aliases	BCAP31 , 6C6-AG, BAP31, CDM, DDCH, DXS1357E, B-cell receptor-associated protein 31, B-cell receptor associated protein 31, B cell receptor associated protein 31
External IDs	OMIM: 300398; MGI: 1350933; HomoloGene: 38095; GeneCards: BCAP31; OMA:BCAP31 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xq28 Start 153,700,492 bp [1] End 153,724,565 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X A7.3 Start 72,729,784 bp [2] End 72,759,781 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal gland right adrenal gland right adrenal cortex left adrenal cortex mucosa of transverse colon stromal cell of endometrium skin of leg skin of abdomen Brodmann area 10 islet of Langerhans Top expressed in Paneth cell facial motor nucleus gastrula decidua subcutaneous adipose tissue medullary collecting duct fossa external carotid artery condyle tunica adventitia of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-containing complex binding protein binding MHC class I protein binding Cellular component integral component of membrane cytosol endoplasmic reticulum membrane membrane Sec61 Golgi membrane lipid droplet perinuclear endoplasmic reticulum integral component of plasma membrane Golgi cisterna membrane endoplasmic reticulum integral component of lumenal side of endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment membrane clathrin-coated vesicle mitochondrion Biological process antigen processing and presentation of peptide antigen via MHC class I positive regulation of cytosolic calcium ion concentration positive regulation of retrograde protein transport, ER to cytosol positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process spermatogenesis protein transport negative regulation of endoplasmic reticulum calcium ion concentration positive regulation of mitochondrial calcium ion concentration intracellular protein transport calcium-mediated signaling using intracellular calcium source positive regulation of intrinsic apoptotic signaling pathway vesicle-mediated transport apoptotic process endoplasmic reticulum to Golgi vesicle-mediated transport protein localization to endoplasmic reticulum exit site execution phase of apoptosis transport viral process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10134 27061 Ensembl ENSG00000185825 ENSMUSG00000002015 UniProt P51572 Q61335 RefSeq (mRNA) NM_005745 NM_001139441 NM_001139457 NM_001256447 NM_012060 NM_001313698 RefSeq (protein) NP_001132913 NP_001132929 NP_001243376 NP_005736 NP_001300627 NP_036190 Location (UCSC) Chr X: 153.7 – 153.72 Mb Chr X: 72.73 – 72.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

B-cell receptor-associated protein 31 is a protein that in humans is encoded by the BCAP31 gene. ^[5]

Interactions

BCAP31 has been shown to interact with:

• APP, ^[6]
• BCL2L1, ^[7]
• BCL2, ^[7]
• CASP8, ^[7] 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. ^[8]

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.

References

1. GRCh38: Ensembl release 89: ENSG00000185825 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000002015 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: BCAP31 B-cell receptor-associated protein 31".
6. 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.
7. 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.
8. Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, et al. (September 2021). "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. doi: 10.1038/s41431-021-00821-0 . PMC   8440520 . PMID   33603160.

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. 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 .