BCL2-related protein A1

Bcl-2-related protein A1 is a protein in humans which is encoded by the BCL2A1 gene.

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) Band 15q25.1 Start 79,960,892 bp End 79,971,196 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 E3.1 Start 88,605,338 bp End 88,613,967 bp
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 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
Wikidata
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Function

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.

In melanocytic cells BCL2A1 gene expression may be regulated by MITF.

Interactions

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

• Bcl-2-associated X protein, and
• Bcl-2-associated death promoter.

External links

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

Further reading

• Choi SS, Park IC, Yun JW, et al. (1995). "A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer and preferentially expressed in bone marrow". Oncogene. 11 (9): 1693–8. PMID 7478596.
• Lin EY, Orlofsky A, Berger MS, Prystowsky MB (1993). "Characterization of A1, a novel hemopoietic-specific early-response gene with sequence similarity to bcl-2". J. Immunol. 151 (4): 1979–88. doi:10.4049/jimmunol.151.4.1979. PMID 8345191. S2CID 22930599.
• Karsan A, Yee E, Kaushansky K, Harlan JM (1996). "Cloning of human Bcl-2 homologue: inflammatory cytokines induce human A1 in cultured endothelial cells". Blood. 87 (8): 3089–96. doi:10.1182/blood.V87.8.3089.bloodjournal8783089. PMID 8605321.
• Karsan A, Yee E, Harlan JM (1996). "Endothelial cell death induced by tumor necrosis factor-alpha is inhibited by the Bcl-2 family member, A1". J. Biol. Chem. 271 (44): 27201–4. doi:10.1074/jbc.271.44.27201. PMID 8910286.
• Carrió R, López-Hoyos M, Jimeno J, et al. (1997). "A1 demonstrates restricted tissue distribution during embryonic development and functions to protect against cell death". Am. J. Pathol. 149 (6): 2133–42. PMC 1865360. PMID 8952545.
• Kenny JJ, Knobloch TJ, Augustus M, et al. (1997). "GRS, a novel member of the Bcl-2 gene family, is highly expressed in multiple cancer cell lines and in normal leukocytes". Oncogene. 14 (8): 997–1001. doi:10.1038/sj.onc.1200898. PMID 9050999. S2CID 365249.
• Choi SS, Park SH, Kim UJ, Shin HS (1997). "Bfl-1, a Bcl-2-related gene, is the human homolog of the murine A1, and maps to chromosome 15q24.3". Mamm. Genome. 8 (10): 781–2. doi:10.1007/s003359900567. PMID 9321477. S2CID 8472273.
• Hsu SY, Kaipia A, McGee E, et al. (1997). "Bok is a pro-apoptotic Bcl-2 protein with restricted expression in reproductive tissues and heterodimerizes with selective anti-apoptotic Bcl-2 family members". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12401–6. Bibcode:1997PNAS...9412401H. doi:10.1073/pnas.94.23.12401. PMC 24966. PMID 9356461.
• Takemoto Y, Furuta M, Sato M, et al. (1998). "Growth factor receptor-bound protein 2 (Grb2) association with hemopoietic specific protein 1: linkage between Lck and Grb2". J. Immunol. 161 (2): 625–30. doi:10.4049/jimmunol.161.2.625. PMID 9670936. S2CID 11576096.
• Zong WX, Edelstein LC, Chen C, et al. (1999). "The prosurvival Bcl-2 homolog Bfl-1/A1 is a direct transcriptional target of NF-kappaB that blocks TNFalpha-induced apoptosis". Genes Dev. 13 (4): 382–7. doi:10.1101/gad.13.4.382. PMC 316475. PMID 10049353.
• Holmgreen SP, Huang DC, Adams JM, Cory S (1999). "Survival activity of Bcl-2 homologs Bcl-w and A1 only partially correlates with their ability to bind pro-apoptotic family members". Cell Death Differ. 6 (6): 525–32. doi:10.1038/sj.cdd.4400519. PMID 10381646.
• Lee HH, Dadgostar H, Cheng Q, et al. (1999). "NF-kappaB-mediated up-regulation of Bcl-x and Bfl-1/A1 is required for CD40 survival signaling in B lymphocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (16): 9136–41. Bibcode:1999PNAS...96.9136L. doi:10.1073/pnas.96.16.9136. PMC 17745. PMID 10430908.
• Wang CY, Guttridge DC, Mayo MW, Baldwin AS (1999). "NF-kappaB induces expression of the Bcl-2 homologue A1/Bfl-1 to preferentially suppress chemotherapy-induced apoptosis". Mol. Cell. Biol. 19 (9): 5923–9. doi:10.1128/MCB.19.9.5923. PMC 84448. PMID 10454539.
• Tomayko MM, Punt JA, Bolcavage JM, et al. (1999). "Expression of the Bcl-2 family member A1 is developmentally regulated in T cells". Int. Immunol. 11 (11): 1753–61. doi:10.1093/intimm/11.11.1753. PMID 10545479.
• Zhang H, Cowan-Jacob SW, Simonen M, et al. (2000). "Structural basis of BFL-1 for its interaction with BAX and its anti-apoptotic action in mammalian and yeast cells". J. Biol. Chem. 275 (15): 11092–9. doi:10.1074/jbc.275.15.11092. PMID 10753914.
• Duriez PJ, Wong F, Dorovini-Zis K, et al. (2000). "A1 functions at the mitochondria to delay endothelial apoptosis in response to tumor necrosis factor". J. Biol. Chem. 275 (24): 18099–107. doi:10.1074/jbc.M908925199. PMID 10849436.
• Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
• Bae J, Hsu SY, Leo CP, et al. (2001). "Underphosphorylated BAD interacts with diverse antiapoptotic Bcl-2 family proteins to regulate apoptosis". Apoptosis. 6 (5): 319–30. doi:10.1023/A:1011319901057. PMID 11483855. S2CID 23119757.
• Akari H, Bour S, Kao S, et al. (2001). "The human immunodeficiency virus type 1 accessory protein Vpu induces apoptosis by suppressing the nuclear factor kappaB-dependent expression of antiapoptotic factors". J. Exp. Med. 194 (9): 1299–311. doi:10.1084/jem.194.9.1299. PMC 2195969. PMID 11696595.