BCAP31

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

B Cell Receptor Associated Protein 31

Functions as a chaperone protein (PubMed:9396746, PubMed:18287538).
Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:9396746, PubMed:18287538).
Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) (PubMed:9396746, PubMed:18287538).
Also serves as a cargo receptor for the export of transmembrane proteins (By similarity).
Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 (PubMed:31206022).
In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 (PubMed:31206022).
May be involved in CASP8-mediated apoptosis (PubMed:10958671).

Antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
Apoptotic process Source: UniProtKB-KW
Calcium-mediated signaling using intracellular calcium source Source: UniProtKB
Endoplasmic reticulum to Golgi vesicle-mediated transport Source: GO_Central
Negative regulation of endoplasmic reticulum calcium ion concentration Source: UniProtKB
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Positive regulation of cytosolic calcium ion concentration Source: UniProtKB
Positive regulation of ER-associated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
Positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
Positive regulation of mitochondrial calcium ion concentration Source: UniProtKB
Positive regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
Protein localization to endoplasmic reticulum exit site Source: GO_Central
Protein targeting to mitochondrion Source: UniProtKB
Response to endoplasmic reticulum stress Source: UniProtKB
Spermatogenesis Source: Ensembl
Viral process Source: UniProtKB-KW

Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane. May shuttle between the ER and the intermediate compartment/cis-Golgi complex (PubMed:9396746). Associates with the mitochondria-associated endoplasmic reticulum membrane via interaction with TOMM40 (PubMed:31206022).

Deafness, dystonia, and cerebral hypomyelination (DDCH): An X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging.

Lumenal: 2-6 aa
Helical: 7-27 aa
Cytoplasmic: 28-43 aa
Helical: 44-64 aa
Lumenal: 65-102 aa
Helical: 103-123 aa
Cytoplasmic: 124-246 aa

Cleaved by CASP8 and other caspases.