Contents

BCL2-related protein A1

Protein-coding gene in the species Homo sapiens

BCL2A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VM6, 3I1H, 3MQP, 4ZEQ
Identifiers
Aliases	BCL2A1, ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1, BCL2 related protein A1
External IDs	OMIM: 601056; MGI: 1278325; HomoloGene: 2988; GeneCards: BCL2A1; OMA:BCL2A1 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q25.1 Start 79,960,892 bp[1] End 79,971,196 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 E3.1 Start 88,605,338 bp[2] End 88,613,967 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber monocyte granulocyte bone marrow right lung bone marrow cells spleen appendix upper lobe of left lung testicle Top expressed in membranous bone Dermatocranium mandible spleen maxilla thymus right lung left lung blastocyst ileum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding channel activity protein homodimerization activity protein heterodimerization activity BH domain binding Cellular component cytoplasm mitochondrial outer membrane Biological process apoptotic process regulation of apoptotic process negative regulation of apoptotic process release of cytochrome c from mitochondria mitochondrial fusion intrinsic apoptotic signaling pathway in response to DNA damage positive regulation of apoptotic process transmembrane transport extrinsic apoptotic signaling pathway in absence of ligand human ageing cerebral cortex development negative regulation of intrinsic apoptotic signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 597 12047 Ensembl ENSG00000140379 ENSMUSG00000099974 UniProt Q16548 O55179 RefSeq (mRNA) NM_004049 NM_001114735 NM_007536 RefSeq (protein) NP_001108207 NP_004040 NP_031562 Location (UCSC) Chr 15: 79.96 – 79.97 Mb Chr 9: 88.61 – 88.61 Mb PubMed search [3] [4]
Wikidata
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Bcl-2-related protein A1 is a protein in humans which is encoded by the BCL2A1 gene.^[5][6][7]

Function[edit]

This gene encodes a member of the bcl2 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 can 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.^[7]

In melanocytic cells BCL2A1 gene expression may be regulated by MITF.^[8]

Interactions[edit]

BCL2-related protein A1 has been shown to interact with:

• Bcl-2-associated X protein,^[9][10] and
• Bcl-2-associated death promoter.^[11][12]

References[edit]

External links[edit]

• Human BCL2A1 genome location and BCL2A1 gene details page in the UCSC Genome Browser.

Further reading[edit]

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.