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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.
Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Low cell type specificity

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Homodimer and heterodimer with BCAP29 (PubMed:9334338, PubMed:23967155). Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1 (PubMed:9334338, PubMed:11917123, PubMed:31206022). Forms a complex (via C-terminus) with TOMM40 which mediates the translocation of components of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) from the cytosol to the mitochondria; within the complex BCAP31 interacts directly with unprocessed and processed NDUFS4 and NDUFB11 (PubMed:31206022). Interacts with VDAC1 (PubMed:31206022). Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins (By similarity). Interacts with HACD2 (PubMed:15024066). (Microbial infection) Interacts (via C-terminus) with HRSV membrane protein SH; this interaction is direct.

More Types Infomation

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