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2024-03-29 19:42:49, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_033503               4551 bp    mRNA    linear   PRI 29-APR-2013
DEFINITION  Homo sapiens Bcl2 modifying factor (BMF), transcript variant 2,
            mRNA.
ACCESSION   NM_033503
VERSION     NM_033503.3  GI:51558692
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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 4551)
  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 AK024472.1, BC060783.1,
            BQ064116.1, N41452.1, BG744712.1 and AI281003.1.
            On Aug 26, 2004 this sequence version replaced gi:21071075.
            
            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 (2) differs in the 5' UTR,
            compared to variant 1. 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 :: AK024472.1, BC069505.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088, ERS025089 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-710               AK024472.1         11-720
            711-3356            BC060783.1         858-3503
            3357-3377           BQ064116.1         726-746
            3378-3379           BQ064116.1         749-750
            3380-3695           BC060783.1         3527-3842
            3696-3730           N41452.1           244-278
            3731-3810           BC060783.1         3878-3957
            3811-4286           BG744712.1         203-678             c
            4287-4535           AI281003.1         1-249               c
            4536-4551           BC060783.1         4683-4698
FEATURES             Location/Qualifiers
     source          1..4551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..4551
                     /gene="BMF"
                     /note="Bcl2 modifying factor"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:24132"
                     /db_xref="HPRD:05881"
                     /db_xref="MIM:606266"
     exon            1..81
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     STS             17..710
                     /gene="BMF"
                     /db_xref="UniSTS:480510"
     misc_feature    24..26
                     /gene="BMF"
                     /note="upstream in-frame stop codon"
     STS             58..691
                     /gene="BMF"
                     /db_xref="UniSTS:482450"
     STS             66..673
                     /gene="BMF"
                     /db_xref="UniSTS:488136"
     exon            82..378
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     CDS             87..641
                     /gene="BMF"
                     /note="isoform bmf-1 is encoded by transcript variant 2;
                     bcl-2-modifying factor"
                     /codon_start=1
                     /product="bcl-2-modifying factor isoform bmf-1"
                     /protein_id="NP_277038.1"
                     /db_xref="GI:15723378"
                     /db_xref="CCDS:CCDS10052.1"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:24132"
                     /db_xref="HPRD:05881"
                     /db_xref="MIM:606266"
                     /translation="
MEPSQCVEELEDDVFQPEDGEPVTQPGSLLSADLFAQSLLDCPLSRLQLFPLTHCCGPGLRPTSQEDKATQTLSPASPSQGVMLPCGVTEEPQRLFYGNAGYRLPLPASFPAVLPIGEQPPEGQWQHQAEVQIARKLQCIADQFHRLHVQQHQQNQNRVWWQILLFLHNLALNGEENRNGAGPR
"
     misc_feature    285..311
                     /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    306..308
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[8]
                     /db_xref="HPRD:03100"
     misc_feature    315..317
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[8]
                     /db_xref="HPRD:03100"
     misc_feature    483..527
                     /gene="BMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LC9.1);
                     Region: BH3"
     exon            379..539
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     exon            540..4538
                     /gene="BMF"
                     /inference="alignment:Splign:1.39.8"
     variation       1282
                     /gene="BMF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:936494"
     variation       3696
                     /gene="BMF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:648289"
     variation       3777
                     /gene="BMF"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2242186"
     variation       4422
                     /gene="BMF"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:8116"
     polyA_signal    4518..4522
                     /gene="BMF"
     polyA_site      4538
                     /gene="BMF"
ORIGIN      
gtaccctgcatgcatatagctgctgattctactcctgctattgctcacaaccctcagagtcaaactttgtgaccggcctaggagagatggagccatctcagtgtgtggaggagctggaggatgatgtgttccaaccagaggatggggagccggtgacccaacccgggagcttgctctctgctgacctgtttgcccagagcctactggactgccccctcagccgacttcagctcttccctctcacccactgctgtggccctggccttcgacccaccagccaggaagacaaagctacccagactctcagcccagcctcccccagccaaggtgtcatgctgccttgtggggtgactgaggaaccccagcgactcttttatggcaatgctggctatcggcttcctctccctgccagtttcccagcagtcttgcccattggggagcagccccccgaagggcagtggcaacatcaagcagaggtacagattgcccgaaagcttcagtgcattgcagaccagttccaccggcttcatgtgcagcaacaccagcagaaccaaaatcgtgtgtggtggcagatcctcctcttcctgcacaaccttgctttgaatggagaagagaacaggaacggggcaggccctaggtgagggtgggctgccctcttcacatggggcaccaggaacaccgtctggaacaggaaggacatcgggcaggactgacactgtgtcttgtgaaattgtttttttgttgttattttgtgttttaattttttttaatttctctctgagtgtacatacaacatactcaagcgggaccttctttctctgtcaggcccttgacctggaatgggggcctttgtcaaacactgttgaaggagaggctgatgtgtctgtgatggtgagaattcccaagggctctgacaagtagattcttcgactgaggaatctaccagttgtcgaagatgatccgttagtgatgttctctgggaagtggactgtggtttttccagaggaactcagttaagaaatcgagagtggattagactcccagttccaccaaacctatgagccttccactgtggatgggggccgtgatcctgatggtcacattgctttaacccagcagggcttcggccaggggctttccacttgaggatagcagcttcactaggctggccggccagctccacatctgactgggttcttacttctcagccagtacctgccccatgggctcaaggattcctggccagctcctgccacctccagcagacctcagggagggttgggtttctctaaggacccctcaaacatgtcgcaaaatgaaccaaacttctggctaggcctcaaaactgacttggtcccacttggaggccccaggattggtcctgaggtacagagccactgccaccactggcggcctgggaccagctgggtgtcagccacggatgagccgaatagccagtcagcatgttgctgctggcagcctgtgcctttgtcagctcttctttcaaaagaccccaccgacagaccgcattccacccccaacatcggcactgagggacatcgggggcaagtttgcagtggggccggaaaatatggtggccaccctaccatgagagtcagccgtaggggaccccagaccccttggtttccttggaaacaacatacctcttcccccttatccccagtcctttttcatacctagtgggatacagaagaagccaggacagtggctttgccagctaagtgacttttagagtaacagataacgattagagtggggaaccgtcaaagctgggtacacatttcctatcttcctccagcttccagctaggccagaagggcatgctctggaacccagcaggatcacagctgcctgtgcacgtcttcccttctctccctgctgcggcacttatggagaggatctaaagcagccggtgtggcagctccgatagcaggcacagggaatctgttaaccagacgctagaaactaaattataacttttgcatatgtgagaaaagacaacattggtgctaacagtgaagtaaggcccaaaggaaagacggcttccctggacaaagaagacctcagggctacccaaggaaataggaggagtctagagtagactcacaaatctgaacaagcccaagtcttccagttctgaggagaggaggtcttcagtactattgaaggagacattgatcttctggatgtacagttgtgcaggttgttcactgcacaagggcacctgcagctaatggaggctggaattcagcttgtgttctgctcactaagctgtgtgcgtgccctggtgtggggctacttctcccaagaagaaggggtgcctttcctaatttgcaaaggtgccatatgggctcacagcaccctggaggagaagggcctcaaactgtgcatgtaagcctttgttttgttctgctcagatattctggatattacctcttcttggtcagaattctattctcagggtgtgtaccatgatttgtctgctaagaagacgggttcctgctttgcagagaaggagccggggaccagcttgaagactggctctgggacacactgaccattgtgaaattcagccttccctgtgggtctccataccattttatgatgtgtatgggacatacgttgttctcccctctctggatcaaggtggtgacaggcagcctgctgccgtatgcttcagtggcacacaccaaaaaaccgggattatttacagcagccactattcaccccttttggcagactctccacctgagttcagtgagagagaaaatgatttagatcttggtgctggggcaaggccatcagcttcagagaccttgccaggcccaggctgggtgccctgtggcctgagaactgagcccagactttgacaaacccacctcaacatcaagcctggggcaggtggaaggtggtctgactgcactgtctccatcttatgcaaagccaggaactcactcactgtcttaagtgagccagggcaaaatttacacccctcacgtttccctctcccttcttccccaccaacaaaacccaggaggtagctggcagagtagctgtcaggaaggagaaaggttctttctggctggttgtttttaattggcttagtgatctaaactggccccttcctcctctgcctggtgagttggcctaaacattcctcaagtctagcctcaggagacctgcccctcccccccgacctccaccccctcagactccatcccccacccccaggagcctggctgtctctagcgaggggtggagaatcagatttagagggagggagagtctgacctggatcctgacctgtaaccagctgaagacggtggaggctttgtggcttgctgagggtgggggttgggagagggactggaaaccttcctcctcgggaaagaaatgcctgggaggaagggaagcctgatattcagggtcaaaacagcccttctaattcacaaccccaaagcaggggtttctagaagttggtcaacagatctggtgagggaagtccccaggccagacgctggactcctgcaatgagggtggaggactcagcctggcctctgcctggcctgtttcaaagtctgggccactggcagccttctcttgctcaatccgaggtggaaaaagatcacctcccagtgacctccctcagcccccaggggagtaggtctgtgtccaaagctatgtggcaggcttgtttgaaggacccagaggggcccagctgacctgtctcactgctcctggcagcccagccccatcggcaggtggcccctgcctgggggttattcgggatggttcagccagggcctcccaggaagagtgctgtggagccacggtgactgtcctggacagcaaggagcatgctaccccagtgagcacttctttttgagggacttgatggggaggtggggtaggcagaagggacgtggcagaagcgggaagactttggtcaccatggctctgcaggccttctgcaaatcagtgctggcctgggctggaaacagctctgtgtgtgaaggtgaggactcttggaagcaggccatcctggccagacaccctagcaggaaggggctcacctgtcacccttaggcagcctgagggctggtggggacttttgagtcttgaggggatagcggaaaaagctgagctcataggtgcccagccagcctcccagctaaaggtgctcagagccccactgccccctctctctgtgcaggtggccagtgcccctccctgctctgggagcattgctagccttctaccccatccctggatccacaggggctatcgaggagacccagtgagaatgtagcattttgttcatccccagggtagctgccctggggtctgggcactctgcctctgggagagaggaagaagaaaggggccccattttttaaaaaactgtacagagcctttggctttatgtgtttatgttcttcacatgcatatgtgtgtatgtgtgtatatctttccccccatcaattggtacaatttttaataaaatcatttaaagcaaaaaaaaaaaaaaaa
//

Annotations:

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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