BCAP31 Recombinant Monoclonal Antibody

Uniprot Id

P51572

Target Species

Human

Target Name

BCAP31

Target Full Name

B-cell receptor-associated protein 31

Target Function

Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. 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). Also serves as a cargo receptor for the export of transmembrane proteins. 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. In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2. May be involved in CASP8-mediated apoptosis.

Target Involvement

Deafness, dystonia, and cerebral hypomyelination (DDCH)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein.

Target Protein Families

BCAP29/BCAP31 family

Target Tissue Specificity

Ubiquitous. Highly expressed in neurons and discrete endocrine cells.

Target Research Area

Apoptosis

Target Synonyms

6C6 AG; 6C6 AG tumor associated antigen; 6C6-AG tumor-associated antigen; 6C6AG; 6C6AG tumor associated antigen; Accessory protein BAP 31; Accessory protein BAP31; B cell receptor associated protein 31; B-cell receptor-associated protein 31; BA31; BAP 31; Bap31; BAP31_HUMAN; BCAP 31; BCAP31; BCR associated protein Bap 31; BCR associated protein Bap31; BCR-associated protein 31; CDM; CDM protein; DXS1357E; MS950; p28; p28 Bap31; Protein CDM; RP23-329M9.5

Target Background

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.