ID B2LA1_HUMAN Reviewed; 175 AA. AC Q16548; Q6FGZ4; Q6FH19; Q99524; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1996, sequence version 1. DT 03-NOV-2009, entry version 94. DE RecName: Full=Bcl-2-related protein A1; DE AltName: Full=Bcl-2-like protein 5; DE Short=Bcl2-L-5; DE AltName: Full=Protein BFL-1; DE AltName: Full=Hemopoietic-specific early response protein; DE AltName: Full=Protein GRS; GN Name=BCL2A1; Synonyms=BCL2L5, BFL1, GRS, HBPA1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Liver; RX MEDLINE=96068895; PubMed=7478596; RA Choi S.S., Park I.-C., Yun J.W., Sung Y.C., Hong S.-I., Shin H.-S.; RT "A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer RT and preferentially expressed in bone marrow."; RL Oncogene 11:1693-1698(1995). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Umbilical vein; RX MEDLINE=96184764; PubMed=8605321; RA Karsan A., Yee E., Kaushansky K., Harlan J.M.; RT "Cloning of human Bcl-2 homologue: inflammatory cytokines induce human RT A1 in cultured endothelial cells."; RL Blood 87:3089-3096(1996). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=T-cell; RX MEDLINE=97203281; PubMed=9050999; DOI=10.1038/sj.onc.1200898; RA Kenny J.J., Knobloch T.J., Augustus M., Carter K.C., Rosen C.A., RA Lang J.C.; RT "GRS, a novel member of the Bcl-2 gene family, is highly expressed in RT multiple cancer cell lines and in normal leukocytes."; RL Oncogene 14:997-1001(1997). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor RT vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS TYR-19; LYS-39 RP AND ASP-82. RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., RA Korn B., Zuo D., Hu Y., LaBaer J.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [8] RP INTERACTION WITH BAX. RX MEDLINE=20237095; PubMed=10772918; DOI=10.1006/bbrc.2000.2537; RA Schmitt E., Paquet C., Beauchemin M., Dever-Bertrand J., Bertrand R.; RT "Characterization of Bax-sigma, a cell death-inducing isoform of RT Bax."; RL Biochem. Biophys. Res. Commun. 270:868-879(2000). RN [9] RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 149-608 IN COMPLEX WITH RP BCL2L11. RG Structural genomics consortium (SGC); RT "Human BCL-2A1 in complex with BIM."; RL Submitted (FEB-2008) to the PDB data bank. CC -!- FUNCTION: Retards apoptosis induced by IL-3 deprivation. May CC function in the response of hemopoietic cells to external signals CC and in maintaining endothelial survival during infection (By CC similarity). CC -!- SUBUNIT: Interacts directly with BAK1, BID, BMF and BBC3 (By CC similarity). Interacts directly with BCL2L11/BIM. Interacts with CC BAX isoform Sigma. CC -!- INTERACTION: CC Q9BXH1:BBC3; NbExp=1; IntAct=EBI-1003550, EBI-519884; CC O43521:BCL2L11; NbExp=1; IntAct=EBI-1003550, EBI-526406; CC P55957:BID; NbExp=1; IntAct=EBI-1003550, EBI-519672; CC P22736:NR4A1; NbExp=1; IntAct=EBI-1003550, EBI-721550; CC -!- SUBCELLULAR LOCATION: Cytoplasm. CC -!- TISSUE SPECIFICITY: Seems to be restricted to the hematopoietic CC compartment. Expressed in peripheral blood, spleen, and bone CC marrow, at moderate levels in lung, small intestine and testis, at CC a minimal levels in other tissues. Also found in vascular smooth CC muscle cells and hematopoietic malignancies. CC -!- INDUCTION: By phorbol ester and inflammatory cytokines, such as CC TNF-alpha, or IL-1-beta, but not by growth factors. CC -!- SIMILARITY: Belongs to the Bcl-2 family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U27467; AAC50288.1; -; mRNA. DR EMBL; U29680; AAC50438.1; -; mRNA. DR EMBL; Y09397; CAA70566.1; -; mRNA. DR EMBL; BT007103; AAP35767.1; -; mRNA. DR EMBL; CR541937; CAG46735.1; -; mRNA. DR EMBL; CR541962; CAG46760.1; -; mRNA. DR EMBL; CH471136; EAW99129.1; -; Genomic_DNA. DR EMBL; BC016281; AAH16281.1; -; mRNA. DR IPI; IPI00002881; -. DR PIR; I39055; I39055. DR RefSeq; NP_004040.1; -. DR UniGene; Hs.227817; -. DR PDB; 2VM6; X-ray; 2.20 A; A=1-149. DR PDB; 3I1H; X-ray; 2.20 A; A=1-151. DR PDBsum; 2VM6; -. DR PDBsum; 3I1H; -. DR IntAct; Q16548; 4. DR STRING; Q16548; -. DR PRIDE; Q16548; -. DR Ensembl; ENST00000267953; ENSP00000267953; ENSG00000140379; Homo sapiens. DR Ensembl; ENST00000335661; ENSP00000335250; ENSG00000140379; Homo sapiens. DR GeneID; 597; -. DR UCSC; uc002bfc.2; human. DR CTD; 597; -. DR GeneCards; GC15M078040; -. DR H-InvDB; HIX0012488; -. DR HGNC; HGNC:991; BCL2A1. DR HPA; CAB010382; -. DR MIM; 601056; gene. DR PharmGKB; PA25303; -. DR HOGENOM; Q16548; -. DR HOVERGEN; Q16548; -. DR OMA; NGGWENG; -. DR Pathway_Interaction_DB; bcr_5pathway; BCR signaling pathway. DR NextBio; 2429; -. DR ArrayExpress; Q16548; -. DR Bgee; Q16548; -. DR CleanEx; HS_BCL2A1; -. DR Genevestigator; Q16548; -. DR GermOnline; ENSG00000140379; Homo sapiens. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0006916; P:anti-apoptosis; TAS:ProtInc. DR GO; GO:0006915; P:apoptosis; IEA:UniProtKB-KW. DR InterPro; IPR013282; Apop_reg_Bcl2Rel. DR InterPro; IPR002475; BCL2_apoptsis. DR InterPro; IPR000712; Bcl2_BH. DR Pfam; PF00452; Bcl-2; 1. DR PRINTS; PR01862; BCL2FAMILY. DR PRINTS; PR01867; BCL2RLATEDA1. DR SMART; SM00337; BCL; 1. DR PROSITE; PS50062; BCL2_FAMILY; 1. DR PROSITE; PS01080; BH1; 1. DR PROSITE; PS01258; BH2; 1. PE 1: Evidence at protein level; KW 3D-structure; Apoptosis; Complete proteome; Cytoplasm; Polymorphism. FT CHAIN 1 175 Bcl-2-related protein A1. FT /FTId=PRO_0000143094. FT MOTIF 77 97 BH1. FT MOTIF 132 147 BH2. FT COMPBIAS 24 33 Ala/Pro-rich. FT VARIANT 19 19 C -> Y (in dbSNP:rs1138357). FT /FTId=VAR_020342. FT VARIANT 39 39 N -> K (in dbSNP:rs1138358). FT /FTId=VAR_020343. FT VARIANT 82 82 G -> D (in dbSNP:rs3826007). FT /FTId=VAR_020344. FT VARIANT 117 117 E -> D (in dbSNP:rs34080999). FT /FTId=VAR_044059. FT CONFLICT 72 72 N -> T (in Ref. 3; CAA70566). FT CONFLICT 107 107 Q -> H (in Ref. 3; CAA70566). FT HELIX 1 20 FT HELIX 32 51 FT HELIX 53 56 FT HELIX 64 79 FT HELIX 86 106 FT HELIX 113 115 FT HELIX 116 136 FT HELIX 139 142 FT HELIX 144 148 SQ SEQUENCE 175 AA; 20132 MW; 329D98AF2BE07A0D CRC64; MTDCEFGYIY RLAQDYLQCV LQIPQPGSGP SKTSRVLQNV AFSVQKEVEK NLKSCLDNVN VVSVDTARTL FNQVMEKEFE DGIINWGRIV TIFAFEGILI KKLLRQQIAP DVDTYKEISY FVAEFIMNNT GEWIRQNGGW ENGFVKKFEP KSGWMTFLEV TGKICEMLSL LKQYC //