BCAP31
B-cell receptor-associated protein 31
Also known as: 6C6-Ag, BAP31, BAP31_HUMAN, CDM, DXS1357E
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51572
- Gene
- BCAP31
- Ensembl
- ENSG00000185825
- Chromosome
- X
- Canonical length
- 246 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
246 residues, UniProt reviewed canonical sequence.
>P51572|BCAP31
1 MSLQWTAVAT FLYAEVFVVL LLCIPFISPK RWQKIFKSRL VELLVSYGNT FFVVLIVILV
61 LLVIDAVREI RKYDDVTEKV NLQNNPGAME HFHMKLFRAQ RNLYIAGFSL LLSFLLRRLV
121 TLISQQATLL ASNEAFKKQA ESASEAAKKY MEENDQLKKG AAVDGGKLDV GNAEVKLEEE
181 NRSLKADLQK LKDELASTKQ KLEKAENQVL AMRKQSEGLT KEYDRLLEEH AKLQAAVDGP
241 MDKKEELocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCAP31 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 393 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 393 nTPM
- adipose tissue: 295 nTPM
- esophagus: 255 nTPM
- adrenal gland: 253 nTPM
- pancreas: 251 nTPM
- breast: 249 nTPM
Single-cell type
- syncytiotrophoblasts: 628 nCPM
- extravillous trophoblasts: 575 nCPM
- cytotrophoblasts: 513 nCPM
- esophageal apical cells: 501 nCPM
- migrating cytotrophoblasts: 476 nCPM
- early primary spermatocytes: 400 nCPM
Immune cell
- total PBMC: 1,111 nTPM
- plasmacytoid DC: 668 nTPM
- non-classical monocyte: 635 nTPM
- basophil: 632 nTPM
- neutrophil: 627 nTPM
- intermediate monocyte: 536 nTPM
Brain region
- choroid plexus: 180 nTPM
- pons: 167 nTPM
- hypothalamus: 159 nTPM
- medulla oblongata: 156 nTPM
- thalamus: 152 nTPM
- midbrain: 150 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCAP31.
Disease | AllUniProt
Conditions BCAP31 is implicated in, by any mechanism.
- Deafness, dystonia, and cerebral hypomyelination (DDCH) MIM:300475
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 264 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- Thyroid cancer, nonmedullary, 1
- Inborn genetic diseases
- BCAP31-related disorder
Disease | ImmuneIEDB
Conditions an epitope on BCAP31 was assayed in.
- melanoma T cell
- breast cancer T cell
- ovarian cancer T cell
- prostate cancer T cell
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.65
- gnomAD pLI
- 0.43
- gnomAD missense Z
- 1.3
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intracellular protein transport
- positive regulation of ERAD pathway
- positive regulation of intrinsic apoptotic signaling pathway
- positive regulation of retrograde protein transport, ER to cytosol
- positive regulation of ubiquitin-dependent protein catabolic process
- protein localization to endoplasmic reticulum exit site
- protein targeting to mitochondrion
- response to endoplasmic reticulum stress
- spermatogenesis
Molecular functions
Cellular components
- clathrin-coated vesicle
- cytosol
- endoplasmic reticulum
- endoplasmic reticulum membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
- Golgi cisterna membrane
- Golgi membrane
- lipid droplet
- lumenal side of endoplasmic reticulum membrane
- membrane
- mitochondria-associated endoplasmic reticulum membrane contact site
- perinuclear endoplasmic reticulum
- plasma membrane
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCAP31 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BCAP31 as an antibody target. Whether an autoantibody or antibody against BCAP31 could matter depends on whether native BCAP31 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCAP31 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BCAP31 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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