BCAP31

BCAP31 Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
BCAP31
Official Name
B cell receptor associated protein 31 [Source:HGNC Symbol;Acc:HGNC:16695]
Ensembl ID
ENSG00000185825
Bio databases IDs NCBI: 10134 Ensembl: ENSG00000185825
Aliases B cell receptor associated protein 31
Synonyms
6C6-AG,BAP31,B-cell receptor-associated protein 31,CDM,DDCH,DELXQ28,DXS1357E,MICRODELXq28,p28 Bap31
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • MHC class I protein binding
  • binding protein
  • cytoplasmic domain
  • Bap31/Bap29 transmembrane region
  • BAP31 intravesicular domain
  • protein binding
  • Bap31/Bap29 cytoplasmic coiled-coil domain
  • transporter

Pathways

Biological processes and signaling networks where the BCAP31 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • DHCR7
  • CD99
  • YWHAQ
  • CAV1
  • METTL14
  • UBL4A
  • RHOG
  • CEBPA
  • LAMP1
  • SLC25A46
disease
  • neoplasia
  • severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • hereditary disorder
  • obesity
  • deafness, dystonia, and cerebral hypomyelination
  • fibrosis
  • impaired glucose tolerance
  • impaired insulin tolerance
regulated by
  • FAS
  • HTT
  • TP53
  • CASP8
  • E1a
  • etoposide
  • actinomycin D
  • CANX
  • CST5
  • Hbx
regulates
  • GSK3B
  • CCL2
  • p38 MAPK
  • Ca2+
  • reactive oxygen species
  • AKT
  • BAX
  • TNF
  • Cxcl10
  • lipid
role in cell
  • expression in
  • phosphorylation in
  • apoptosis
  • production in
  • proliferation
  • growth
  • formation in
  • cell death
  • transmembrane potential
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • plasma membrane fraction
  • secondary granule fractions
  • pH resistant lipid raft fraction
  • detergent resistant lipid raft fraction
  • endoplasmic reticulum mitochondria contact site
  • cellular membrane
  • Plasma Membrane
  • vesicles
  • Endoplasmic Reticulum
  • lipid droplets
  • granules
  • cytosol
  • reticular perinuclear compartment
  • endoplasmic reticulum membrane
  • basolateral membrane
  • Golgi membrane
  • inner nuclear membrane
  • nuclear envelope
  • Golgi cisternae
  • clathrin-coated vesicles
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the BCAP31 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • protein targeting to mitochondrion
  • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
  • ER to Golgi vesicle-mediated transport
  • spermatogenesis
  • apoptotic process
  • protein localization to endoplasmic reticulum exit site
  • intracellular protein transport
  • positive regulation of intrinsic apoptotic signaling pathway
  • response to endoplasmic reticulum stress

CELLULAR COMPONENT

Where in the cell the gene product is active
  • Golgi cisterna membrane
  • ER-mitochondrion membrane contact site
  • Golgi membrane
  • endoplasmic reticulum
  • plasma membrane
  • endoplasmic reticulum membrane
  • lipid particle
  • perinuclear endoplasmic reticulum
  • membrane
  • cytosol
  • clathrin-coated vesicle
  • endoplasmic reticulum-Golgi intermediate compartment membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding
  • MHC class I protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.