LOCUS NP_644805 770 aa linear PRI 06 +-FEB-2011 DEFINITION signal transducer and activator of transcription 3 isoform + 1 [Homo sapiens]. ACCESSION NP_644805 VERSION NP_644805.1 GI:21618340 DBSOURCE REFSEQ: accession NM_139276.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Eutele +ostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhin +i; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 770) AUTHORS Davidson,S.I., Liu,Y., Danoy,P.A., Wu,X., Thomas,G.P., Jia +ng,L., Sun,L., Wang,N., Han,J., Han,H., Visscher,P.M., Brown,M.A. + and Xu,H. CONSRTM Australo-Anglo-American Spondyloarthritis Consortium TITLE Association of STAT3 and TNFRSF1A with ankylosing spondyli +tis in Han Chinese JOURNAL Ann. Rheum. Dis. 70 (2), 289-292 (2011) PUBMED 21068102 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) REFERENCE 2 (residues 1 to 770) AUTHORS Budarf,M.L., Goyette,P., Boucher,G., Lian,J., Graham,R.R., Claudio,J.O., Hudson,T., Gladman,D., Clarke,A.E., Pope,J.E +., Peschken,C., Smith,C.D., Hanly,J., Rich,E., Boire,G., Barr +,S.G., Zummer,M., Fortin,P.R., Wither,J. and Rioux,J.D. CONSRTM GenES Investigators TITLE A targeted association study in systemic lupus erythematos +us identifies multiple susceptibility alleles JOURNAL Genes Immun. 12 (1), 51-58 (2011) PUBMED 20962850 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) REFERENCE 3 (residues 1 to 770) AUTHORS Hosur,V. and Loring,R.H. TITLE alpha4beta2 nicotinic receptors partially mediate anti-inf +lammatory effects through Janus kinase 2-signal transducer and activ +ator of transcription 3 but not calcium or cAMP signaling JOURNAL Mol. Pharmacol. 79 (1), 167-174 (2011) PUBMED 20943775 REMARK GeneRIF: A role was determined for signal transducer and a +ctivator of transcription 3 and Janus kinase-2 transduction in alph +a4beta2 nicotinic receptor-mediated anti-inflammatory effects. REFERENCE 4 (residues 1 to 770) AUTHORS Laukens,D., Georges,M., Libioulle,C., Sandor,C., Mni,M., V +ander Cruyssen,B., Peeters,H., Elewaut,D. and De Vos,M. TITLE Evidence for significant overlap between common risk varia +nts for Crohn's disease and ankylosing spondylitis JOURNAL PLoS ONE 5 (11), E13795 (2010) PUBMED 21072187 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) Publication Status: Online-Only REFERENCE 5 (residues 1 to 770) AUTHORS Shukla,S., Shishodia,G., Mahata,S., Hedau,S., Pandey,A., Bhambhani,S., Batra,S., Basir,S.F., Das,B.C. and Bharti,A. +C. TITLE Aberrant expression and constitutive activation of STAT3 i +n cervical carcinogenesis: implications in high-risk human papillomavirus infection JOURNAL Mol. Cancer 9, 282 (2010) PUBMED 20977777 REMARK GeneRIF: Data show that in the presence of HPV16, STAT3 is aberrantly-expressed and constitutively-activated in cervi +cal cancer which increases as the lesion progresses thus indic +ating its potential role in progression of HPV16-mediated cervical carcinogenesis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 770) AUTHORS Boulton,T.G., Zhong,Z., Wen,Z., Darnell,J.E. Jr., Stahl,N. + and Yancopoulos,G.D. TITLE STAT3 activation by cytokines utilizing gp130 and related transducers involves a secondary modification requiring an H7-sensitive kinase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (15), 6915-6919 (1995) PUBMED 7624343 REFERENCE 7 (residues 1 to 770) AUTHORS Lin,J.X., Migone,T.S., Tsang,M., Friedmann,M., Weatherbee, +J.A., Zhou,L., Yamauchi,A., Bloom,E.T., Mietz,J., John,S. et al. TITLE The role of shared receptor motifs and common Stat protein +s in the generation of cytokine pleiotropy and redundancy by IL-2, +IL-4, IL-7, IL-13, and IL-15 JOURNAL Immunity 2 (4), 331-339 (1995) PUBMED 7719938 REFERENCE 8 (residues 1 to 770) AUTHORS Zhang,X., Blenis,J., Li,H.C., Schindler,C. and Chen-Kiang, +S. TITLE Requirement of serine phosphorylation for formation of STAT-promoter complexes JOURNAL Science 267 (5206), 1990-1994 (1995) PUBMED 7701321 REFERENCE 9 (residues 1 to 770) AUTHORS Akira,S., Nishio,Y., Inoue,M., Wang,X.J., Wei,S., Matsusak +a,T., Yoshida,K., Sudo,T., Naruto,M. and Kishimoto,T. TITLE Molecular cloning of APRF, a novel IFN-stimulated gene fac +tor 3 p91-related transcription factor involved in the gp130-med +iated signaling pathway JOURNAL Cell 77 (1), 63-71 (1994) PUBMED 7512451 REFERENCE 10 (residues 1 to 770) AUTHORS DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. + and Calos,M.P. TITLE Analysis of mutation in human cells by using an Epstein-Ba +rr virus shuttle system JOURNAL Mol. Cell. Biol. 7 (1), 379-387 (1987) PUBMED 3031469 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staf +f. The reference sequence was derived from BI461226.1, BC014482.1 +, AK092965.1, CB216860.1, BC008044.2, CF454565.1 and AI63189 +6.1. This sequence is a reference standard in the RefSeqGene pr +oject. On May 7, 2004 this sequence version replaced gi:16596688. Summary: The protein encoded by this gene is a member of t +he STAT protein family. In response to cytokines and growth factor +s, STAT family members are phosphorylated by the receptor associat +ed kinases, and then form homo- or heterodimers that transloc +ate to the cell nucleus where they act as transcription activator +s. This protein is activated through phosphorylation in response t +o various cytokines and growth factors including IFNs, EGF, IL5, IL6 +, HGF, LIF and BMP2. This protein mediates the expression of a va +riety of genes in response to cell stimuli, and thus plays a key ro +le in many cellular processes such as cell growth and apoptosis. + The small GTPase Rac1 has been shown to bind and regulate the +activity of this protein. PIAS3 protein is a specific inhibitor of +this protein. Three alternatively spliced transcript variants e +ncoding distinct isoforms have been described. [provided by RefSeq +]. Transcript Variant: This variant (1) represents the longes +t transcript, and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of + the publications that are available for this gene. Please see +the Entrez Gene record to access additional publications. FEATURES Location/Qualifiers source 1..770 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.31" Protein 1..770 /product="signal transducer and activator of tran +scription 3 isoform 1" /note="acute-phase response factor; DNA-binding p +rotein APRF" /calculated_mol_wt=87937 Region 150..162 /region_name="Essential for nuclear import" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (P407 +63.2)" Site 539 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 691 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphoserine; propagated from UniProtKB/S +wiss-Prot (P40763.2)" Site 705 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 714 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 727 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphoserine, by NLK; propagated from UniProtKB/Swiss-Prot (P40763.2)" CDS 1..770 /gene="STAT3" /gene_synonym="APRF; FLJ20882; HIES; MGC16063" /coded_by="NM_139276.2:241..2553" /note="isoform 1 is encoded by transcript variant + 1" /db_xref="CCDS:CCDS32656.1" /db_xref="GeneID:6774" /db_xref="HGNC:11364" /db_xref="HPRD:00026" /db_xref="MIM:102582" ORIGIN 1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatl +vfhnl 61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrl +lqtaa 121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfn +yktlk 181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktl +tdeel 241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykg +dpivq 301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkf +pelny 361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlre +qrcgn 421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawa +silwy 481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgp +gvnys 541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kerer +ailst 601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiim +gykim 661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg saapylktkf icvtp +ttcsn 721 tidlpmsprt ldslmqfgnn gegaepsagg qfesltfdme ltsecatspm // LOCUS NP_003141 769 aa linear PRI 06 +-FEB-2011 DEFINITION signal transducer and activator of transcription 3 isoform + 2 [Homo sapiens]. ACCESSION NP_003141 NP_444275 VERSION NP_003141.2 GI:21618338 DBSOURCE REFSEQ: accession NM_003150.3 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Eutele +ostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhin +i; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 769) AUTHORS Davidson,S.I., Liu,Y., Danoy,P.A., Wu,X., Thomas,G.P., Jia +ng,L., Sun,L., Wang,N., Han,J., Han,H., Visscher,P.M., Brown,M.A. + and Xu,H. CONSRTM Australo-Anglo-American Spondyloarthritis Consortium TITLE Association of STAT3 and TNFRSF1A with ankylosing spondyli +tis in Han Chinese JOURNAL Ann. Rheum. Dis. 70 (2), 289-292 (2011) PUBMED 21068102 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) REFERENCE 2 (residues 1 to 769) AUTHORS Budarf,M.L., Goyette,P., Boucher,G., Lian,J., Graham,R.R., Claudio,J.O., Hudson,T., Gladman,D., Clarke,A.E., Pope,J.E +., Peschken,C., Smith,C.D., Hanly,J., Rich,E., Boire,G., Barr +,S.G., Zummer,M., Fortin,P.R., Wither,J. and Rioux,J.D. CONSRTM GenES Investigators TITLE A targeted association study in systemic lupus erythematos +us identifies multiple susceptibility alleles JOURNAL Genes Immun. 12 (1), 51-58 (2011) PUBMED 20962850 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) REFERENCE 3 (residues 1 to 769) AUTHORS Hosur,V. and Loring,R.H. TITLE alpha4beta2 nicotinic receptors partially mediate anti-inf +lammatory effects through Janus kinase 2-signal transducer and activ +ator of transcription 3 but not calcium or cAMP signaling JOURNAL Mol. Pharmacol. 79 (1), 167-174 (2011) PUBMED 20943775 REMARK GeneRIF: A role was determined for signal transducer and a +ctivator of transcription 3 and Janus kinase-2 transduction in alph +a4beta2 nicotinic receptor-mediated anti-inflammatory effects. REFERENCE 4 (residues 1 to 769) AUTHORS Laukens,D., Georges,M., Libioulle,C., Sandor,C., Mni,M., V +ander Cruyssen,B., Peeters,H., Elewaut,D. and De Vos,M. TITLE Evidence for significant overlap between common risk varia +nts for Crohn's disease and ankylosing spondylitis JOURNAL PLoS ONE 5 (11), E13795 (2010) PUBMED 21072187 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) Publication Status: Online-Only REFERENCE 5 (residues 1 to 769) AUTHORS Shukla,S., Shishodia,G., Mahata,S., Hedau,S., Pandey,A., Bhambhani,S., Batra,S., Basir,S.F., Das,B.C. and Bharti,A. +C. TITLE Aberrant expression and constitutive activation of STAT3 i +n cervical carcinogenesis: implications in high-risk human papillomavirus infection JOURNAL Mol. Cancer 9, 282 (2010) PUBMED 20977777 REMARK GeneRIF: Data show that in the presence of HPV16, STAT3 is aberrantly-expressed and constitutively-activated in cervi +cal cancer which increases as the lesion progresses thus indic +ating its potential role in progression of HPV16-mediated cervical carcinogenesis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 769) AUTHORS Boulton,T.G., Zhong,Z., Wen,Z., Darnell,J.E. Jr., Stahl,N. + and Yancopoulos,G.D. TITLE STAT3 activation by cytokines utilizing gp130 and related transducers involves a secondary modification requiring an H7-sensitive kinase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (15), 6915-6919 (1995) PUBMED 7624343 REFERENCE 7 (residues 1 to 769) AUTHORS Lin,J.X., Migone,T.S., Tsang,M., Friedmann,M., Weatherbee, +J.A., Zhou,L., Yamauchi,A., Bloom,E.T., Mietz,J., John,S. et al. TITLE The role of shared receptor motifs and common Stat protein +s in the generation of cytokine pleiotropy and redundancy by IL-2, +IL-4, IL-7, IL-13, and IL-15 JOURNAL Immunity 2 (4), 331-339 (1995) PUBMED 7719938 REFERENCE 8 (residues 1 to 769) AUTHORS Zhang,X., Blenis,J., Li,H.C., Schindler,C. and Chen-Kiang, +S. TITLE Requirement of serine phosphorylation for formation of STAT-promoter complexes JOURNAL Science 267 (5206), 1990-1994 (1995) PUBMED 7701321 REFERENCE 9 (residues 1 to 769) AUTHORS Akira,S., Nishio,Y., Inoue,M., Wang,X.J., Wei,S., Matsusak +a,T., Yoshida,K., Sudo,T., Naruto,M. and Kishimoto,T. TITLE Molecular cloning of APRF, a novel IFN-stimulated gene fac +tor 3 p91-related transcription factor involved in the gp130-med +iated signaling pathway JOURNAL Cell 77 (1), 63-71 (1994) PUBMED 7512451 REFERENCE 10 (residues 1 to 769) AUTHORS DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. + and Calos,M.P. TITLE Analysis of mutation in human cells by using an Epstein-Ba +rr virus shuttle system JOURNAL Mol. Cell. Biol. 7 (1), 379-387 (1987) PUBMED 3031469 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staf +f. The reference sequence was derived from BI461226.1, BC000627.2 +, AK092965.1, CB216860.1, BC008044.2, CF454565.1 and AI63189 +6.1. On Jun 27, 2002 this sequence version replaced gi:4507253. Summary: The protein encoded by this gene is a member of t +he STAT protein family. In response to cytokines and growth factor +s, STAT family members are phosphorylated by the receptor associat +ed kinases, and then form homo- or heterodimers that transloc +ate to the cell nucleus where they act as transcription activator +s. This protein is activated through phosphorylation in response t +o various cytokines and growth factors including IFNs, EGF, IL5, IL6 +, HGF, LIF and BMP2. This protein mediates the expression of a va +riety of genes in response to cell stimuli, and thus plays a key ro +le in many cellular processes such as cell growth and apoptosis. + The small GTPase Rac1 has been shown to bind and regulate the +activity of this protein. PIAS3 protein is a specific inhibitor of +this protein. Three alternatively spliced transcript variants e +ncoding distinct isoforms have been described. [provided by RefSeq +]. Transcript Variant: This variant (2) lacks a segment in th +e 5' UTR and 3 nt within the CDS, as compared to variant 1. The res +ulting isoform (2) lacks an amino acid compared to isoform 1. Publication Note: This RefSeq record includes a subset of + the publications that are available for this gene. Please see +the Entrez Gene record to access additional publications. FEATURES Location/Qualifiers source 1..769 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.31" Protein 1..769 /product="signal transducer and activator of tran +scription 3 isoform 2" /note="acute-phase response factor; DNA-binding p +rotein APRF" /calculated_mol_wt=87850 Region 150..162 /region_name="Essential for nuclear import" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (P407 +63.2)" Site 539 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 691 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphoserine; propagated from UniProtKB/S +wiss-Prot (P40763.2)" Site 704 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 713 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (P40763.2)" Site 726 /site_type="phosphorylation" /experiment="experimental evidence, no additional + details recorded" /note="Phosphoserine, by NLK; propagated from UniProtKB/Swiss-Prot (P40763.2)" CDS 1..769 /gene="STAT3" /gene_synonym="APRF; FLJ20882; HIES; MGC16063" /coded_by="NM_003150.3:219..2528" /note="isoform 2 is encoded by transcript variant + 2" /db_xref="CCDS:CCDS32657.1" /db_xref="GeneID:6774" /db_xref="HGNC:11364" /db_xref="HPRD:00026" /db_xref="MIM:102582" ORIGIN 1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatl +vfhnl 61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrl +lqtaa 121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfn +yktlk 181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktl +tdeel 241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykg +dpivq 301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkf +pelny 361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlre +qrcgn 421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawa +silwy 481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgp +gvnys 541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kerer +ailst 601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiim +gykim 661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg aapylktkfi cvtpt +tcsnt 721 idlpmsprtl dslmqfgnng egaepsaggq fesltfdmel tsecatspm // LOCUS NP_612815 233 aa linear PRI 10 +-FEB-2011 DEFINITION bcl-2-like protein 1 isoform 1 [Homo sapiens]. ACCESSION NP_612815 VERSION NP_612815.1 GI:20336335 DBSOURCE REFSEQ: accession NM_138578.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Eutele +ostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhin +i; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 233) AUTHORS Mayeenuddin,L.H., Yu,Y., Kang,Z., Helman,L.J. and Cao,L. TITLE Insulin-like growth factor 1 receptor antibody induces rhabdomyosarcoma cell death via a process involving AKT an +d Bcl-x(L) JOURNAL Oncogene 29 (48), 6367-6377 (2010) PUBMED 20818434 REMARK GeneRIF: Rhabdomyosarcoma pathogenesis involves increased +IGF1R expression that enhances AKT and Bcl-x(L)-mediated cell su +rvival. REFERENCE 2 (residues 1 to 233) AUTHORS Kelly,J.L., Novak,A.J., Fredericksen,Z.S., Liebow,M., Anse +ll,S.M., Dogan,A., Wang,A.H., Witzig,T.E., Call,T.G., Kay,N.E., Habermann,T.M., Slager,S.L. and Cerhan,J.R. TITLE Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (11), 2847-2858 (201 +0) PUBMED 20855536 REMARK GeneRIF: Observational study of gene-disease association. +(HuGE Navigator) REFERENCE 3 (residues 1 to 233) AUTHORS Gonzalez,M.S., De Brasi,C.D., Bianchini,M., Gargallo,P., Moiraghi,B., Bengio,R. and Larripa,I.B. TITLE BAX/BCL-XL gene expression ratio inversely correlates with + disease progression in chronic myeloid leukemia JOURNAL Blood Cells Mol. Dis. 45 (3), 192-196 (2010) PUBMED 20728382 REMARK GeneRIF: BAX/BCL-XL expression ratio may be a sensitive mo +nitor of disease progression and an early predictor of TKI therapy responsiveness in CML patients. REFERENCE 4 (residues 1 to 233) AUTHORS Boise,L.H., Minn,A.J., Noel,P.J., June,C.H., Accavitti,M.A +., Lindsten,T. and Thompson,C.B. TITLE CD28 costimulation can promote T cell survival by enhancin +g the expression of Bcl-xL. Immunity. 1995. 3: 87-98 JOURNAL J. Immunol. 185 (7), 3788-3799 (2010) PUBMED 20858890 REMARK GeneRIF: CD28 costimulation of T-cells was found to augmen +t the expression of Bcl-x substantially REFERENCE 5 (residues 1 to 233) AUTHORS Wincewicz,A., Baltaziak,M., Kanczuga-Koda,L., Koda,M., Sul +kowska,U. and Sulkowski,S. TITLE GLUT1 and Bcl-xL in relation to erythropoietin in human co +lorectal adenocarcinomas JOURNAL Hepatogastroenterology 57 (101), 741-745 (2010) PUBMED 21033220 REMARK GeneRIF: Bcl-xl expression(along with GLUT1 and EPO)plays +a role in promoting self survival of malignant cells under hypoxic c +onditions of colorectal cancer. REFERENCE 6 (residues 1 to 233) AUTHORS Broome,H.E., Dargan,C.M., Krajewski,S. and Reed,J.C. TITLE Expression of Bcl-2, Bcl-x, and Bax after T cell activatio +n and IL-2 withdrawal JOURNAL J. Immunol. 155 (5), 2311-2317 (1995) PUBMED 7650367 REFERENCE 7 (residues 1 to 233) AUTHORS Sedlak,T.W., Oltvai,Z.N., Yang,E., Wang,K., Boise,L.H., Thompson,C.B. and Korsmeyer,S.J. TITLE Multiple Bcl-2 family members demonstrate selective dimeri +zations with Bax JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7834-7838 (1995) PUBMED 7644501 REFERENCE 8 (residues 1 to 233) AUTHORS Jaattela,M., Benedict,M., Tewari,M., Shayman,J.A. and Dixi +t,V.M. TITLE Bcl-x and Bcl-2 inhibit TNF and Fas-induced apoptosis and activation of phospholipase A2 in breast carcinoma cells JOURNAL Oncogene 10 (12), 2297-2305 (1995) PUBMED 7540278 REFERENCE 9 (residues 1 to 233) AUTHORS Yang,E., Zha,J., Jockel,J., Boise,L.H., Thompson,C.B. and Korsmeyer,S.J. TITLE Bad, a heterodimeric partner for Bcl-XL and Bcl-2, displac +es Bax and promotes cell death JOURNAL Cell 80 (2), 285-291 (1995) PUBMED 7834748 REFERENCE 10 (residues 1 to 233) AUTHORS Boise,L.H., Gonzalez-Garcia,M., Postema,C.E., Ding,L., Lin +dsten,T., Turka,L.A., Mao,X., Nunez,G. and Thompson,C.B. TITLE bcl-x, a bcl-2-related gene that functions as a dominant r +egulator of apoptotic cell death JOURNAL Cell 74 (4), 597-608 (1993) PUBMED 8358789 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staf +f. The reference sequence was derived from BC019307.1. Summary: The protein encoded by this gene belongs to the B +CL-2 protein family. BCL-2 family members form hetero- or homod +imers and act as anti- or pro-apoptotic regulators that are involved + in a wide variety of cellular activities. The proteins encoded +by this gene are located at the outer mitochondrial membrane, and +have been shown to regulate outer mitochondrial membrane channel (VD +AC) opening. VDAC regulates mitochondrial membrane potential, +and thus controls the production of reactive oxygen species and rel +ease of cytochrome C by mitochondria, both of which are the potent + inducers of cell apoptosis. Two alternatively spliced transcript va +riants, which encode distinct isoforms, have been reported. The lo +nger isoform acts as an apoptotic inhibitor and the shorter for +m acts as an apoptotic activator. [provided by RefSeq]. Transcript Variant: This variant (1) is also known as bcl- +xL. It encodes a longer isoform (1). Publication Note: This RefSeq record includes a subset of + the publications that are available for this gene. Please see +the Entrez Gene record to access additional publications. FEATURES Location/Qualifiers source 1..233 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.21" Protein 1..233 /product="bcl-2-like protein 1 isoform 1" /note="bcl-2-like protein 1; bcl2-L-1; apoptosis +regulator Bcl-X" /calculated_mol_wt=25918 Region 4..24 /region_name="BH4" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q078 +17.1)" Site 61..62 /site_type="cleavage" /experiment="experimental evidence, no additional + details recorded" /note="Cleavage, by caspase-1; propagated from UniProtKB/Swiss-Prot (Q07817.1)" Region 86..100 /region_name="BH3" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q078 +17.1)" Region 129..148 /region_name="BH1" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q078 +17.1)" Region 180..195 /region_name="BH2" /experiment="experimental evidence, no additional + details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q078 +17.1)" Site 210..226 /site_type="transmembrane region" /inference="non-experimental evidence, no additio +nal details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q078 +17.1)" CDS 1..233 /gene="BCL2L1" /gene_synonym="Bcl-X; bcl-xL; BCL-XL/S; bcl-xS; B +CL2L; BCLX; BCLXL; BCLXS; DKFZp781P2092" /coded_by="NM_138578.1:367..1068" /note="isoform 1 is encoded by transcript variant + 1" /db_xref="CCDS:CCDS13189.1" /db_xref="GeneID:598" /db_xref="HGNC:992" /db_xref="HPRD:02497" /db_xref="MIM:600039" ORIGIN 1 msqsnrelvv dflsyklsqk gyswsqfsdv eenrteapeg tesemetpsa ingnp +swhla 61 dspavngatg hsssldarev ipmaavkqal reagdefelr yrrafsdlts qlhit +pgtay 121 qsfeqvvnel frdgvnwgri vaffsfggal cvesvdkemq vlvsriaawm atyln +dhlep 181 wiqenggwdt fvelygnnaa aesrkgqerf nrwfltgmtv agvvllgslf srk //
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