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BCAP31

From Wikipedia, the free encyclopedia

BCAP31
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBCAP31, 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 IDsOMIM: 300398; MGI: 1350933; HomoloGene: 38095; GeneCards: BCAP31; OMA:BCAP31 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr X: 72.73 – 72.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Interactions

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BCAP31 has been shown to interact with:

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185825Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002015Ensembl, 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. ^ a b c 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

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