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
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 stromal cell of endometrium skin of abdomen Brodmann area 10 islet of Langerhans right lobe of thyroid gland left lobe of thyroid gland anterior pituitary body of pancreas Top expressed in Paneth cell facial motor nucleus subcutaneous adipose tissue medullary collecting duct fossa external carotid artery condyle internal carotid artery white adipose tissue carotid body 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 translocon complex 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
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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

Further reading

External links

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