GGRNA | NM_001003940.1

LOCUS       NM_001003940            4700 bp    mRNA    linear   PRI 29-APR-2013
DEFINITION  Homo sapiens Bcl2 modifying factor (BMF), transcript variant 1,
            mRNA.
ACCESSION   NM_001003940
VERSION     NM_001003940.1  GI:51558687
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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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 4700)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070043.1, CB108463.1,
            BC069505.1, BC069328.1, BC060783.1, BQ064116.1, N41452.1,
            BG744712.1 and AI281003.1.
            
            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 (1) represents the longest
            transcript. Transcript variants 1 and 2 encode the longest 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 :: BC070043.1, BC060783.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025086 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                BC070043.1         1-56
            57-230              CB108463.1         62-235
            231-419             CB108463.1         317-505
            420-473             BC069505.1         255-308
            474-859             BC069328.1         363-748
            860-3505            BC060783.1         858-3503
            3506-3526           BQ064116.1         726-746
            3527-3528           BQ064116.1         749-750
            3529-3844           BC060783.1         3527-3842
            3845-3879           N41452.1           244-278
            3880-3959           BC060783.1         3878-3957
            3960-4435           BG744712.1         203-678             c
            4436-4684           AI281003.1         1-249               c
            4685-4700           BC060783.1         4683-4698
FEATURES             Location/Qualifiers
     source          1..4700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..4700
                     /gene="BMF"
                     /note="Bcl2 modifying factor"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:24132"
                     /db_xref="MIM:606266"
     exon            1..102
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     exon            103..230
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     exon            231..527
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     CDS             236..790
                     /gene="BMF"
                     /note="isoform bmf-1 is encoded by transcript variant 1;
                     bcl-2-modifying factor"
                     /codon_start=1
                     /product="bcl-2-modifying factor isoform bmf-1"
                     /protein_id="NP_001003940.1"
                     /db_xref="GI:51558688"
                     /db_xref="CCDS:CCDS10052.1"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:24132"
                     /db_xref="MIM:606266"
                     /translation="

MEPSQCVEELEDDVFQPEDGEPVTQPGSLLSADLFAQSLLDCPLSRLQLFPLTHCCGPGLRPTSQEDKATQTLSPASPSQGVMLPCGVTEEPQRLFYGNAGYRLPLPASFPAVLPIGEQPPEGQWQHQAEVQIARKLQCIADQFHRLHVQQHQQNQNRVWWQILLFLHNLALNGEENRNGAGPR

"
     misc_feature    434..460
                     /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    455..457
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[8]
                     /db_xref="HPRD:03100"
     misc_feature    464..466
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[8]
                     /db_xref="HPRD:03100"
     misc_feature    632..676
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LC9.1);
                     Region: BH3"
     exon            528..688
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     exon            689..4687
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     variation       1431
                     /gene="BMF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:936494"
     variation       3845
                     /gene="BMF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:648289"
     variation       3926
                     /gene="BMF"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2242186"
     variation       4571
                     /gene="BMF"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:8116"
     polyA_signal    4667..4671
                     /gene="BMF"
     polyA_site      4687
                     /gene="BMF"
ORIGIN

ggaaacaataccgcaccgtgcggagtggcctcctcccgccccggcctgtgcccgccgccgccgccgcccctgcctgcgcctcccgcctcctgccgcagcccgctgggctttttccctccttcccaatcgagtctgggcgtccagcccccgagtgctcgtcacgctggaccctggcgcggagccctggcatcacgactcggaggccgagactctctcctggagtcacccaggagagatggagccatctcagtgtgtggaggagctggaggatgatgtgttccaaccagaggatggggagccggtgacccaacccgggagcttgctctctgctgacctgtttgcccagagcctactggactgccccctcagccgacttcagctcttccctctcacccactgctgtggccctggccttcgacccaccagccaggaagacaaagctacccagactctcagcccagcctcccccagccaaggtgtcatgctgccttgtggggtgactgaggaaccccagcgactcttttatggcaatgctggctatcggcttcctctccctgccagtttcccagcagtcttgcccattggggagcagccccccgaagggcagtggcaacatcaagcagaggtacagattgcccgaaagcttcagtgcattgcagaccagttccaccggcttcatgtgcagcaacaccagcagaaccaaaatcgtgtgtggtggcagatcctcctcttcctgcacaaccttgctttgaatggagaagagaacaggaacggggcaggccctaggtgagggtgggctgccctcttcacatggggcaccaggaacaccgtctggaacaggaaggacatcgggcaggactgacactgtgtcttgtgaaattgtttttttgttgttattttgtgttttaattttttttaatttctctctgagtgtacatacaacatactcaagcgggaccttctttctctgtcaggcccttgacctggaatgggggcctttgtcaaacactgttgaaggagaggctgatgtgtctgtgatggtgagaattcccaagggctctgacaagtagattcttcgactgaggaatctaccagttgtcgaagatgatccgttagtgatgttctctgggaagtggactgtggtttttccagaggaactcagttaagaaatcgagagtggattagactcccagttccaccaaacctatgagccttccactgtggatgggggccgtgatcctgatggtcacattgctttaacccagcagggcttcggccaggggctttccacttgaggatagcagcttcactaggctggccggccagctccacatctgactgggttcttacttctcagccagtacctgccccatgggctcaaggattcctggccagctcctgccacctccagcagacctcagggagggttgggtttctctaaggacccctcaaacatgtcgcaaaatgaaccaaacttctggctaggcctcaaaactgacttggtcccacttggaggccccaggattggtcctgaggtacagagccactgccaccactggcggcctgggaccagctgggtgtcagccacggatgagccgaatagccagtcagcatgttgctgctggcagcctgtgcctttgtcagctcttctttcaaaagaccccaccgacagaccgcattccacccccaacatcggcactgagggacatcgggggcaagtttgcagtggggccggaaaatatggtggccaccctaccatgagagtcagccgtaggggaccccagaccccttggtttccttggaaacaacatacctcttcccccttatccccagtcctttttcatacctagtgggatacagaagaagccaggacagtggctttgccagctaagtgacttttagagtaacagataacgattagagtggggaaccgtcaaagctgggtacacatttcctatcttcctccagcttccagctaggccagaagggcatgctctggaacccagcaggatcacagctgcctgtgcacgtcttcccttctctccctgctgcggcacttatggagaggatctaaagcagccggtgtggcagctccgatagcaggcacagggaatctgttaaccagacgctagaaactaaattataacttttgcatatgtgagaaaagacaacattggtgctaacagtgaagtaaggcccaaaggaaagacggcttccctggacaaagaagacctcagggctacccaaggaaataggaggagtctagagtagactcacaaatctgaacaagcccaagtcttccagttctgaggagaggaggtcttcagtactattgaaggagacattgatcttctggatgtacagttgtgcaggttgttcactgcacaagggcacctgcagctaatggaggctggaattcagcttgtgttctgctcactaagctgtgtgcgtgccctggtgtggggctacttctcccaagaagaaggggtgcctttcctaatttgcaaaggtgccatatgggctcacagcaccctggaggagaagggcctcaaactgtgcatgtaagcctttgttttgttctgctcagatattctggatattacctcttcttggtcagaattctattctcagggtgtgtaccatgatttgtctgctaagaagacgggttcctgctttgcagagaaggagccggggaccagcttgaagactggctctgggacacactgaccattgtgaaattcagccttccctgtgggtctccataccattttatgatgtgtatgggacatacgttgttctcccctctctggatcaaggtggtgacaggcagcctgctgccgtatgcttcagtggcacacaccaaaaaaccgggattatttacagcagccactattcaccccttttggcagactctccacctgagttcagtgagagagaaaatgatttagatcttggtgctggggcaaggccatcagcttcagagaccttgccaggcccaggctgggtgccctgtggcctgagaactgagcccagactttgacaaacccacctcaacatcaagcctggggcaggtggaaggtggtctgactgcactgtctccatcttatgcaaagccaggaactcactcactgtcttaagtgagccagggcaaaatttacacccctcacgtttccctctcccttcttccccaccaacaaaacccaggaggtagctggcagagtagctgtcaggaaggagaaaggttctttctggctggttgtttttaattggcttagtgatctaaactggccccttcctcctctgcctggtgagttggcctaaacattcctcaagtctagcctcaggagacctgcccctcccccccgacctccaccccctcagactccatcccccacccccaggagcctggctgtctctagcgaggggtggagaatcagatttagagggagggagagtctgacctggatcctgacctgtaaccagctgaagacggtggaggctttgtggcttgctgagggtgggggttgggagagggactggaaaccttcctcctcgggaaagaaatgcctgggaggaagggaagcctgatattcagggtcaaaacagcccttctaattcacaaccccaaagcaggggtttctagaagttggtcaacagatctggtgagggaagtccccaggccagacgctggactcctgcaatgagggtggaggactcagcctggcctctgcctggcctgtttcaaagtctgggccactggcagccttctcttgctcaatccgaggtggaaaaagatcacctcccagtgacctccctcagcccccaggggagtaggtctgtgtccaaagctatgtggcaggcttgtttgaaggacccagaggggcccagctgacctgtctcactgctcctggcagcccagccccatcggcaggtggcccctgcctgggggttattcgggatggttcagccagggcctcccaggaagagtgctgtggagccacggtgactgtcctggacagcaaggagcatgctaccccagtgagcacttctttttgagggacttgatggggaggtggggtaggcagaagggacgtggcagaagcgggaagactttggtcaccatggctctgcaggccttctgcaaatcagtgctggcctgggctggaaacagctctgtgtgtgaaggtgaggactcttggaagcaggccatcctggccagacaccctagcaggaaggggctcacctgtcacccttaggcagcctgagggctggtggggacttttgagtcttgaggggatagcggaaaaagctgagctcataggtgcccagccagcctcccagctaaaggtgctcagagccccactgccccctctctctgtgcaggtggccagtgcccctccctgctctgggagcattgctagccttctaccccatccctggatccacaggggctatcgaggagacccagtgagaatgtagcattttgttcatccccagggtagctgccctggggtctgggcactctgcctctgggagagaggaagaagaaaggggccccattttttaaaaaactgtacagagcctttggctttatgtgtttatgttcttcacatgcatatgtgtgtatgtgtgtatatctttccccccatcaattggtacaatttttaataaaatcatttaaagcaaaaaaaaaaaaaaaa

//

Annotations: