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]
Interactionsedit
BCL2-related protein A1 has been shown to interact with:
^ abcGRCh38: Ensembl release 89: ENSG00000140379 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000099974 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G (March 1996). "The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species". Hum Mol Genet. 4 (11): 2025–32. doi:10.1093/hmg/4.11.2025. PMID 8589678.
^Akatsuka Y, Nishida T, Kondo E, Miyazaki M, Taji H, Iida H, Tsujimura K, Yazaki M, Naoe T, Morishima Y, Kodera Y, Kuzushima K, Takahashi T (June 2003). "Identification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigens". J Exp Med. 197 (11): 1489–500. doi:10.1084/jem.20021925. PMC2193899. PMID 12771180.
^ ab"Entrez Gene: BCL2A1 BCL2-related protein A1".
^Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
^Sedlak TW, Oltvai ZN, Yang E, Wang K, Boise LH, Thompson CB, Korsmeyer SJ (Aug 15, 1995). "Multiple Bcl-2 family members demonstrate selective dimerizations with Bax". Proc. Natl. Acad. Sci. U.S.A. 92 (17): 7834–8. Bibcode:1995PNAS...92.7834S. doi:10.1073/pnas.92.17.7834. PMC41240. PMID 7644501.
^Zhang H, Cowan-Jacob SW, Simonen M, Greenhalf W, Heim J, Meyhack B (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.
^Bae J, Hsu SY, Leo CP, Zell K, Hsueh AJ (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.
^Chen L, Willis SN, Wei A, Smith BJ, Fletcher JI, Hinds MG, Colman PM, Day CL, Adams JM, Huang DC (2005). "Differential targeting of prosurvival Bcl-2 proteins by their BH3-only ligands allows complementary apoptotic function". Mol. Cell. 17 (3): 393–403. doi:10.1016/j.molcel.2004.12.030. PMID 15694340.
External linksedit
Human BCL2A1 genome location and BCL2A1 gene details page in the UCSC Genome Browser.
Further readingedit
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. PMID 8345191.
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. PMC1865360. 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.
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. PMC24966. 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. PMID 9670936.
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. PMC316475. 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. PMC17745. 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. PMC84448. 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. PMC2195969. PMID 11696595.
This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.
bcl2, related, protein, related, protein, protein, humans, which, encoded, bcl2a1, gene, bcl2a1available, structurespdbortholog, search, pdbe, rcsblist, codes2vm6, 3i1h, 3mqp, 4zeqidentifiersaliasesbcl2a1, acc1, acc2, bcl2l5, bfl1, hbpa1, bcl2, related, protei. Bcl 2 related protein A1 is a protein in humans which is encoded by the BCL2A1 gene 5 6 7 BCL2A1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2VM6 3I1H 3MQP 4ZEQIdentifiersAliasesBCL2A1 ACC 1 ACC 2 ACC1 ACC2 BCL2L5 BFL1 GRS HBPA1 BCL2 related protein A1External IDsOMIM 601056 MGI 1278325 HomoloGene 2988 GeneCards BCL2A1Gene location Human Chr Chromosome 15 human 1 Band15q25 1Start79 960 892 bp 1 End79 971 196 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 E3 1Start88 605 338 bp 2 End88 613 967 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inperiodontal fibermonocytebone marrowright lungbone marrow cellsspleenappendixupper lobe of left lungbloodlymph nodeTop expressed inmembranous bonehuman mandiblespleenmaxillathymusright lungleft lungileumjejunumpancreasMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding channel activity protein homodimerization activity protein heterodimerization activity BH domain bindingCellular componentcytoplasm mitochondrial outer membraneBiological processapoptotic 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 pathwaySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez59712047EnsemblENSG00000140379ENSMUSG00000099974UniProtQ16548O55179RefSeq mRNA NM 004049NM 001114735NM 007536RefSeq protein NP 001108207NP 004040NP 031562Location UCSC Chr 15 79 96 79 97 MbChr 9 88 61 88 61 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 External links 5 Further readingFunction editThis 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 editBCL2 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 a b c GRCh38 Ensembl release 89 ENSG00000140379 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000099974 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Savitsky K Sfez S Tagle DA Ziv Y Sartiel A Collins FS Shiloh Y Rotman G March 1996 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species Hum Mol Genet 4 11 2025 32 doi 10 1093 hmg 4 11 2025 PMID 8589678 Akatsuka Y Nishida T Kondo E Miyazaki M Taji H Iida H Tsujimura K Yazaki M Naoe T Morishima Y Kodera Y Kuzushima K Takahashi T June 2003 Identification of a polymorphic gene BCL2A1 encoding two novel hematopoietic lineage specific minor histocompatibility antigens J Exp Med 197 11 1489 500 doi 10 1084 jem 20021925 PMC 2193899 PMID 12771180 a b Entrez Gene BCL2A1 BCL2 related protein A1 Hoek KS Schlegel NC Eichhoff OM et al 2008 Novel MITF targets identified using a two step DNA microarray strategy Pigment Cell Melanoma Res 21 6 665 76 doi 10 1111 j 1755 148X 2008 00505 x PMID 19067971 Sedlak TW Oltvai ZN Yang E Wang K Boise LH Thompson CB Korsmeyer SJ Aug 15 1995 Multiple Bcl 2 family members demonstrate selective dimerizations with Bax Proc Natl Acad Sci U S A 92 17 7834 8 Bibcode 1995PNAS 92 7834S doi 10 1073 pnas 92 17 7834 PMC 41240 PMID 7644501 Zhang H Cowan Jacob SW Simonen M Greenhalf W Heim J Meyhack B 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 Bae J Hsu SY Leo CP Zell K Hsueh AJ 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 Chen L Willis SN Wei A Smith BJ Fletcher JI Hinds MG Colman PM Day CL Adams JM Huang DC 2005 Differential targeting of prosurvival Bcl 2 proteins by their BH3 only ligands allows complementary apoptotic function Mol Cell 17 3 393 403 doi 10 1016 j molcel 2004 12 030 PMID 15694340 External links editHuman BCL2A1 genome location and BCL2A1 gene details page in the UCSC Genome Browser Further reading editChoi 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 PMID 8345191 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 Carrio R Lopez 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 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 PMID 9670936 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 nbsp This article on a gene on human chromosome 15 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title BCL2 related protein A1 amp oldid 1187496420, wikipedia, wiki, book, books, library,
