BCL2A1
Bcl-2-related protein A1
Also known as: ACC-1, ACC-2, ACC1, ACC2, B2LA1_HUMAN, BCL2L5, BFL1, GRS, HBPA1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16548
- Gene
- BCL2A1
- Ensembl
- ENSG00000140379
- Chromosome
- 15
- Canonical length
- 175 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
175 residues, UniProt reviewed canonical sequence.
>Q16548|BCL2A1
1 MTDCEFGYIY RLAQDYLQCV LQIPQPGSGP SKTSRVLQNV AFSVQKEVEK NLKSCLDNVN
61 VVSVDTARTL FNQVMEKEFE DGIINWGRIV TIFAFEGILI KKLLRQQIAP DVDTYKEISY
121 FVAEFIMNNT GEWIRQNGGW ENGFVKKFEP KSGWMTFLEV TGKICEMLSL LKQYCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCL2A1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 583 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 583 nTPM
- appendix: 100 nTPM
- lung: 93 nTPM
- spleen: 86 nTPM
- lymph node: 68 nTPM
- tonsil: 54 nTPM
Single-cell type
- neutrophils: 4,588 nCPM
- monocytes: 1,075 nCPM
- cdc: 280 nCPM
- neutrophil progenitors: 258 nCPM
- macrophages: 248 nCPM
- endometrial secretory cells: 234 nCPM
Immune cell
- neutrophil: 565 nTPM
- non-classical monocyte: 384 nTPM
- eosinophil: 294 nTPM
- intermediate monocyte: 197 nTPM
- memory B-cell: 67 nTPM
- total PBMC: 50 nTPM
Brain region
- cerebral cortex: 72 nTPM
- pons: 20 nTPM
- thalamus: 8.7 nTPM
- white matter: 8.2 nTPM
- medulla oblongata: 6 nTPM
- choroid plexus: 5.2 nTPM
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)
- 0.91
- gnomAD pLI
- 0.21
- gnomAD missense Z
- 1.13
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- extrinsic apoptotic signaling pathway in absence of ligand
- intrinsic apoptotic signaling pathway in response to DNA damage
- mitochondrial fusion
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- release of cytochrome c from mitochondria
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCL2A1 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 BCL2A1 as an antibody target. Whether an autoantibody or antibody against BCL2A1 could matter depends on whether native BCL2A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCL2A1 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 BCL2A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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