2024-04-27 11:00:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001003943 4549 bp mRNA linear PRI 29-APR-2013 DEFINITION Homo sapiens Bcl2 modifying factor (BMF), transcript variant 4, mRNA. ACCESSION NM_001003943 VERSION NM_001003943.2 GI:443609473 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4549) AUTHORS Santiveri,C.M., Sborgi,L. and de Alba,E. TITLE Nuclear magnetic resonance study of protein-protein interactions involving apoptosis regulator Diva (Boo) and the BH3 domain of proapoptotic Bcl-2 members JOURNAL J. Mol. Recognit. 25 (12), 665-673 (2012) PUBMED 23192964 REMARK GeneRIF: Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf. REFERENCE 2 (bases 1 to 4549) AUTHORS Postel-Vinay,S., Veron,A.S., Tirode,F., Pierron,G., Reynaud,S., Kovar,H., Oberlin,O., Lapouble,E., Ballet,S., Lucchesi,C., Kontny,U., Gonzalez-Neira,A., Picci,P., Alonso,J., Patino-Garcia,A., de Paillerets,B.B., Laud,K., Dina,C., Froguel,P., Clavel-Chapelon,F., Doz,F., Michon,J., Chanock,S.J., Thomas,G., Cox,D.G. and Delattre,O. TITLE Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma JOURNAL Nat. Genet. 44 (3), 323-327 (2012) PUBMED 22327514 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 4549) AUTHORS Hausmann,M., Leucht,K., Ploner,C., Kiessling,S., Villunger,A., Becker,H., Hofmann,C., Falk,W., Krebs,M., Kellermeier,S., Fried,M., Scholmerich,J., Obermeier,F. and Rogler,G. TITLE BCL-2 modifying factor (BMF) is a central regulator of anoikis in human intestinal epithelial cells JOURNAL J. Biol. Chem. 286 (30), 26533-26540 (2011) PUBMED 21673109 REMARK GeneRIF: BMF is induced in human IEC by the loss of cell attachment and is likely to play an important role in the regulation of IEC survival REFERENCE 4 (bases 1 to 4549) AUTHORS Zhai,G., Teumer,A., Stolk,L., Perry,J.R., Vandenput,L., Coviello,A.D., Koster,A., Bell,J.T., Bhasin,S., Eriksson,J., Eriksson,A., Ernst,F., Ferrucci,L., Frayling,T.M., Glass,D., Grundberg,E., Haring,R., Hedman,A.K., Hofman,A., Kiel,D.P., Kroemer,H.K., Liu,Y., Lunetta,K.L., Maggio,M., Lorentzon,M., Mangino,M., Melzer,D., Miljkovic,I., Nica,A., Penninx,B.W., Vasan,R.S., Rivadeneira,F., Small,K.S., Soranzo,N., Uitterlinden,A.G., Volzke,H., Wilson,S.G., Xi,L., Zhuang,W.V., Harris,T.B., Murabito,J.M., Ohlsson,C., Murray,A., de Jong,F.H., Spector,T.D. and Wallaschofski,H. CONSRTM MuTHER Consortium TITLE Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms JOURNAL PLoS Genet. 7 (4), E1002025 (2011) PUBMED 21533175 REFERENCE 5 (bases 1 to 4549) AUTHORS Whelan,K.A., Caldwell,S.A., Shahriari,K.S., Jackson,S.R., Franchetti,L.D., Johannes,G.J. and Reginato,M.J. TITLE Hypoxia suppression of Bim and Bmf blocks anoikis and luminal clearing during mammary morphogenesis JOURNAL Mol. Biol. Cell 21 (22), 3829-3837 (2010) PUBMED 20861305 REMARK GeneRIF: Data show that hypoxic conditions inhibit anoikis and block expression of proapoptotic BH3-only family members Bim and Bmf in epithelial cells. REFERENCE 6 (bases 1 to 4549) AUTHORS Day,C.L., Puthalakath,H., Skea,G., Strasser,A., Barsukov,I., Lian,L.Y., Huang,D.C. and Hinds,M.G. TITLE Localization of dynein light chains 1 and 2 and their pro-apoptotic ligands JOURNAL Biochem. J. 377 (PT 3), 597-605 (2004) PUBMED 14561217 REFERENCE 7 (bases 1 to 4549) AUTHORS Morales,A.A., Olsson,A., Celsing,F., Osterborg,A., Jondal,M. and Osorio,L.M. TITLE Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells JOURNAL Leukemia 18 (1), 41-47 (2004) PUBMED 14574334 REMARK GeneRIF: Up or downregulation of Bmf isoforms may have a role in regulating growth and survival in B cells and leukemic B-CLL cells REFERENCE 8 (bases 1 to 4549) AUTHORS Lei,K. and Davis,R.J. TITLE JNK phosphorylation of Bim-related members of the Bcl2 family induces Bax-dependent apoptosis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (5), 2432-2437 (2003) PUBMED 12591950 REFERENCE 9 (bases 1 to 4549) AUTHORS Puthalakath,H., Villunger,A., O'Reilly,L.A., Beaumont,J.G., Coultas,L., Cheney,R.E., Huang,D.C. and Strasser,A. TITLE Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis JOURNAL Science 293 (5536), 1829-1832 (2001) PUBMED 11546872 REMARK Erratum:[Science 2002 Aug 16;297(5584):1122] REFERENCE 10 (bases 1 to 4549) AUTHORS Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and Ohara,O. TITLE Characterization of long cDNA clones from human adult spleen JOURNAL DNA Res. 7 (6), 357-366 (2000) PUBMED 11214971 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from HY090235.1, BP280415.1, AY222041.1, BC060783.1 and AC021755.9. On Jan 25, 2013 this sequence version replaced gi:51558703. Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4) lacks an in-frame coding exon, compared to variant 1. It encodes a shorter isoform (bmf-3), compared to isoform bmf-1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP280415.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088, ERS025091 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-5 HY090235.1 4-8 6-593 BP280415.1 1-588 594-635 AY222041.1 349-390 636-3354 BC060783.1 785-3503 3355-3355 AC021755.9 106773-106773 c 3356-3693 BC060783.1 3505-3842 3694-3694 AC021755.9 106434-106434 c 3695-3808 BC060783.1 3844-3957 3809-3809 AC021755.9 106319-106319 c 3810-4419 BC060783.1 3959-4568 4420-4420 AC021755.9 105708-105708 c 4421-4549 BC060783.1 4570-4698 FEATURES Location/Qualifiers source 1..4549 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q14" gene 1..4549 /gene="BMF" /note="Bcl2 modifying factor" /db_xref="GeneID:90427" /db_xref="HGNC:24132" /db_xref="MIM:606266" exon 1..112 /gene="BMF" /inference="alignment:Splign:1.39.8" exon 113..240 /gene="BMF" /inference="alignment:Splign:1.39.8" exon 241..537 /gene="BMF" /inference="alignment:Splign:1.39.8" CDS 246..635 /gene="BMF" /note="isoform bmf-3 is encoded by transcript variant 4; bcl-2-modifying factor" /codon_start=1 /product="bcl-2-modifying factor isoform bmf-3" /protein_id="NP_001003943.1" /db_xref="GI:51558704" /db_xref="CCDS:CCDS32196.1" /db_xref="GeneID:90427" /db_xref="HGNC:24132" /db_xref="MIM:606266" /translation="
MEPSQCVEELEDDVFQPEDGEPVTQPGSLLSADLFAQSLLDCPLSRLQLFPLTHCCGPGLRPTSQEDKATQTLSPASPSQGVMLPCGVTEEPQRLFYAPAEPKSCVVADPPLPAQPCFEWRREQERGRP
" misc_feature 444..470 /gene="BMF" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96LC9.1); Region: Interaction with DLC2 (By similarity)" misc_feature 465..467 /gene="BMF" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[8] /db_xref="HPRD:03100" misc_feature 474..476 /gene="BMF" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[8] /db_xref="HPRD:03100" exon 538..4536 /gene="BMF" /inference="alignment:Splign:1.39.8" variation 1280 /gene="BMF" /replace="a" /replace="g" /db_xref="dbSNP:936494" variation 3694 /gene="BMF" /replace="a" /replace="g" /db_xref="dbSNP:648289" variation 3775 /gene="BMF" /replace="c" /replace="t" /db_xref="dbSNP:2242186" variation 4420 /gene="BMF" /replace="a" /replace="t" /db_xref="dbSNP:8116" ORIGIN
ggcgtattttggaaacaataccgcaccgtgcggagtggcctcctcccgccccggcctgtgcccgccgccgccgccgcccctgcctgcgcctcccgcctcctgccgcagcccgctgggctttttccctccttcccaatcgagtctgggcgtccagcccccgagtgctcgtcacgctggaccctggcgcggagccctggcatcacgactcggaggccgagactctctcctggagtcacccaggagagatggagccatctcagtgtgtggaggagctggaggatgatgtgttccaaccagaggatggggagccggtgacccaacccgggagcttgctctctgctgacctgtttgcccagagcctactggactgccccctcagccgacttcagctcttccctctcacccactgctgtggccctggccttcgacccaccagccaggaagacaaagctacccagactctcagcccagcctcccccagccaaggtgtcatgctgccttgtggggtgactgaggaaccccagcgactcttttatgcaccagcagaaccaaaatcgtgtgtggtggcagatcctcctcttcctgcacaaccttgctttgaatggagaagagaacaggaacggggcaggccctaggtgagggtgggctgccctcttcacatggggcaccaggaacaccgtctggaacaggaaggacatcgggcaggactgacactgtgtcttgtgaaattgtttttttgttgttattttgtgttttaattttttttaatttctctctgagtgtacatacaacatactcaagcgggaccttctttctctgtcaggcccttgacctggaatgggggcctttgtcaaacactgttgaaggagaggctgatgtgtctgtgatggtgagaattcccaagggctctgacaagtagattcttcgactgaggaatctaccagttgtcgaagatgatccgttagtgatgttctctgggaagtggactgtggtttttccagaggaactcagttaagaaatcgagagtggattagactcccagttccaccaaacctatgagccttccactgtggatgggggccgtgatcctgatggtcacattgctttaacccagcagggcttcggccaggggctttccacttgaggatagcagcttcactaggctggccggccagctccacatctgactgggttcttacttctcagccagtacctgccccatgggctcaaggattcctggccagctcctgccacctccagcagacctcagggagggttgggtttctctaaggacccctcaaacatgtcgcaaaatgaaccaaacttctggctaggcctcaaaactgacttggtcccacttggaggccccaggattggtcctgaggtacagagccactgccaccactggcggcctgggaccagctgggtgtcagccacggatgagccgaatagccagtcagcatgttgctgctggcagcctgtgcctttgtcagctcttctttcaaaagaccccaccgacagaccgcattccacccccaacatcggcactgagggacatcgggggcaagtttgcagtggggccggaaaatatggtggccaccctaccatgagagtcagccgtaggggaccccagaccccttggtttccttggaaacaacatacctcttcccccttatccccagtcctttttcatacctagtgggatacagaagaagccaggacagtggctttgccagctaagtgacttttagagtaacagataacgattagagtggggaaccgtcaaagctgggtacacatttcctatcttcctccagcttccagctaggccagaagggcatgctctggaacccagcaggatcacagctgcctgtgcacgtcttcccttctctccctgctgcggcacttatggagaggatctaaagcagccggtgtggcagctccgatagcaggcacagggaatctgttaaccagacgctagaaactaaattataacttttgcatatgtgagaaaagacaacattggtgctaacagtgaagtaaggcccaaaggaaagacggcttccctggacaaagaagacctcagggctacccaaggaaataggaggagtctagagtagactcacaaatctgaacaagcccaagtcttccagttctgaggagaggaggtcttcagtactattgaaggagacattgatcttctggatgtacagttgtgcaggttgttcactgcacaagggcacctgcagctaatggaggctggaattcagcttgtgttctgctcactaagctgtgtgcgtgccctggtgtggggctacttctcccaagaagaaggggtgcctttcctaatttgcaaaggtgccatatgggctcacagcaccctggaggagaagggcctcaaactgtgcatgtaagcctttgttttgttctgctcagatattctggatattacctcttcttggtcagaattctattctcagggtgtgtaccatgatttgtctgctaagaagacgggttcctgctttgcagagaaggagccggggaccagcttgaagactggctctgggacacactgaccattgtgaaattcagccttccctgtgggtctccataccattttatgatgtgtatgggacatacgttgttctcccctctctggatcaaggtggtgacaggcagcctgctgccgtatgcttcagtggcacacaccaaaaaaccgggattatttacagcagccactattcaccccttttggcagactctccacctgagttcagtgagagagaaaatgatttagatcttggtgctggggcaaggccatcagcttcagagaccttgccaggcccaggctgggtgccctgtggcctgagaactgagcccagactttgacaaacccacctcaacatcaagcctggggcaggtggaaggtggtctgactgcactgtctccatcttatgcaaagccaggaactcactcactgtcttaagtgagccagggcaaaatttacacccctcacgtttccctctcccttcttccccaccaacaaaacccaggaggtagctggcagagtagctgtcaggaaggagaaaggttctttctggctggttgtttttaattggcttagtgatctaaactggccccttcctcctctgcctggtgagttggcctaaacattcctcaagtctagcctcaggagacctgcccctcccccccgacctccaccccctcagactccatcccccacccccaggagcctggctgtctctagcgaggggtggagaatcagatttagagggagggagagtctgacctggatcctgacctgtaaccagctgaagacggtggaggctttgtggcttgctgagggtgggggttgggagagggactggaaaccttcctcctcgggaaagaaatgcctgggaggaagggaagcctgatattcagggtcaaaacagcccttctaattcacaaccccaaagcaggggtttctagaagttggtcaacagatctggtgagggaagtccccaggccagacgctggactcctgcaatgagggtggaggactcagcctggcctctgcctggcctgtttcaaagtctgggccactggcagccttctcttgctcaatccgaggtggaaaaagatcacctcccagtgacctccctcagcccccaggggagtaggtctgtgtccaaagctatgtggcaggcttgtttgaaggacccagaggggcccagctgacctgtctcactgctcctggcagcccagccccatcggcaggtggcccctgcctgggggttattcgggatggttcagccagggcctcccaggaagagtgctgtggagccacggtgactgtcctggacagcaaggagcatgctaccccagtgagcacttctttttgagggacttgatggggaggtggggtaggcagaagggacgtggcagaagcgggaagactttggtcaccatggctctgcaggccttctgcaaatcagtgctggcctgggctggaaacagctctgtgtgtgaaggtgaggactcttggaagcaggccatcctggccagacaccctagcaggaaggggctcacctgtcacccttaggcagcctgagggctggtggggacttttgagtcttgaggggatagcggaaaaagctgagctcataggtgcccagccagcctcccagctaaaggtgctcagagccccactgccccctctctctgtgcaggtggccagtgcccctccctgctctgggagcattgctagccttctaccccatccctggatccacaggggctatcgaggagacccagtgagaatgtagcattttgttcatccccagggtagctgccctggggtctgggcactctgcctctgggagagaggaagaagaaaggggccccattttttaaaaaactgtacagagcctttggctttatgtgtttatgttcttcacatgcatatgtgtgtatgtgtgtatatctttccccccatcaattggtacaatttttaataaaatcatttaaagcaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:90427 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:90427 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:90427 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: ISS GeneID:90427 -> Biological process: GO:0043276 [anoikis] evidence: IDA GeneID:90427 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: ISS GeneID:90427 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:90427 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS GeneID:90427 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: TAS GeneID:90427 -> Cellular component: GO:0001669 [acrosomal vesicle] evidence: IEA GeneID:90427 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:90427 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:90427 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:90427 -> Cellular component: GO:0016459 [myosin complex] evidence: ISS
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