BCAP31
Function
Functions as a chaperone protein (PubMed:18287538, PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:18287538, PubMed:9396746). 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:18287538, PubMed:9396746). 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).
Involvement in disease
Deafness, dystonia, and cerebral hypomyelination
DDCH
An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the promoter region of ABCD1.
Post-translational modifications
Cleaved by CASP8 and other caspases.
Sequence Similarities
Belongs to the BCAP29/BCAP31 family.
Tissue Specificity
Ubiquitous. Highly expressed in neurons and discrete endocrine cells.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Multi-pass membrane protein
- 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).
- (Microbial infection) Upon SV40 infection, colocalizes with DNAJC18, DNAJB12 and DNAJB14 in punctate structures within the endoplasmic reticulum membrane.
Alternative names
BAP31, DXS1357E, BCAP31, B-cell receptor-associated protein 31, BCR-associated protein 31, Bap31, 6C6-AG tumor-associated antigen, Protein CDM, p28