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    BMF Bcl2 modifying factor [ Homo sapiens ]

    Gene ID: 90427, updated on 11-May-2012
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    Summary

    Official Symbol
    BMFprovided by HGNC
    Official Full Name
    Bcl2 modifying factorprovided by HGNC
    Primary source
    HGNC:24132
    See related
    Ensembl:ENSG00000104081; HPRD:05881; MIM:606266; Vega:OTTHUMG00000129875
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ00065
    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]
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    Genomic context

    Location :
    15q14
    Sequence :
    Chromosome: 15; NC_000015.9 (40380091..40401075, complement)
    See BMF in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100131089 Neighboring gene signal recognition particle 14kDa (homologous Alu RNA binding protein) Neighboring gene budding uninhibited by benzimidazoles 1 homolog beta (yeast) Neighboring gene p21 protein (Cdc42/Rac)-activated kinase 6 Neighboring gene chromosome 15 open reading frame 56

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. BCL-2 modifying factor (BMF) is a central regulator of anoikis in human intestinal epithelial cells. Hausmann M, et al. J Biol Chem, 2011 Jul 29. PMID 21673109.
    2. Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. Zhai G, et al. PLoS Genet, 2011 Apr. PMID 21533175.
    3. Hypoxia suppression of Bim and Bmf blocks anoikis and luminal clearing during mammary morphogenesis. Whelan KA, et al. Mol Biol Cell, 2010 Nov 15. PMID 20861305.
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Zhang X, et al. Carcinogenesis, 2010 Dec. PMID 20819778.
    5. BH3-only protein Bmf mediates apoptosis upon inhibition of CAP-dependent protein synthesis. Grespi F, et al. Cell Death Differ, 2010 Nov. PMID 20706276.

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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
      Title: BCL-2 modifying factor (BMF) is a central regulator of anoikis in human intestinal epithelial cells.
    2. characterization of the bmf gene locus; molecular basis of the generation of the 2 major isoforms of Bmf; provide evidence that Bmf can act as a sensor for stress that associates with the repression of the conventional CAP-dependent translation machinery
      Title: BH3-only protein Bmf mediates apoptosis upon inhibition of CAP-dependent protein synthesis.
    3. Data show that hypoxic conditions inhibit anoikis and block expression of proapoptotic BH3-only family members Bim and Bmf in epithelial cells.
      Title: Hypoxia suppression of Bim and Bmf blocks anoikis and luminal clearing during mammary morphogenesis.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    5. Bmf is upregulated by PS-341 and has a crucial role in PS-341-mediated glioma cell death through JNK phosphorylation.
      Title: Bmf is upregulated by PS-341-mediated cell death of glioma cells through JNK phosphorylation.
    6. MicroRNA-221 targets Bmf in hepatocellular carcinoma and correlates with tumor multifocality.
      Title: MicroRNA-221 targets Bmf in hepatocellular carcinoma and correlates with tumor multifocality.
    7. Bmf supports Bim in regulating cell death processes in response to many stimuli. Review.
      Title: Bim and Bmf in tissue homeostasis and malignant disease.
    8. Our data indicate a synergistic role for both bim and Bmf in an apoptotic pathway leading to the clearance of Neisseria gonorrhoeae -infected cells.
      Title: Bim and Bmf synergize to induce apoptosis in Neisseria gonorrhoeae infection.
    9. arsenic trioxide upregulated expression of Bmf, Noxa, and Bim. Silencing of Bmf, Noxa, and Bim significantly protected MM cells from ATO-induced apoptosis
      Title: BH3-only proteins Noxa, Bmf, and Bim are necessary for arsenic trioxide-induced cell death in myeloma.
    10. Up or downregulation of Bmf isoforms may have a role in regulating growth and survival in B cells and leukemic B-CLL cells
      Title: Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells.
    Submit: New GeneRIF Correction See all (14)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001003940.1 NP_000624.1 BCL2    BIND  PubMed Bmf interacts with Bcl-2. This interaction was modelled on a demonstrated interaction between mouse Bmf and human Bcl-2. 
    NP_001003940.1 NP_612815.1 BCL2L1    BIND  PubMed Bmf interacts with Bcl-XL. This interaction was modelled on a demonstrated interaction between mouse Bmf and human Bcl-XL. 
    NP_001003940.1 NP_612815.1 BCL2L1    BIND  PubMed Bcl-XL interacts with Bmf. This interaction was modelled on a demonstrated interaction between Bcl-XL from an unspecified species and human Bmf. 
    NP_001003940.1 NP_004041.1 BCL2L2    BIND  PubMed Bmf interacts with Bcl-w. This interaction was modelled on a demonstrated interaction between mouse Bmf and human Bcl-w. 
    NP_001003940.1 MCL1    BIND  PubMed Mcl-1 interacts with Bmf. This interaction was modelled on a demonstrated interaction between Mcl-1 from an unspecified species and human Bmf. 
    Q96LC9 P10415 BCL2    HPRD  PubMed  
    Q96LC9 Q07817 BCL2L1    HPRD  PubMed  
    Q96LC9 Q92843 BCL2L2    HPRD  PubMed  
    Q96LC9 Q96FJ2 DYNLL2    HPRD  PubMed  
    Q96LC9 P45983 MAPK8    HPRD  PubMed  
    Q96LC9 Q07820 MCL1    HPRD  PubMed  
    BioGRID:124716 BioGRID:107068 BCL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124716 BioGRID:107069 BCL2A1    BioGRID  PubMed Protein-peptide 
    BioGRID:124716 BioGRID:107071 BCL2L2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124716 BioGRID:114206 DYNLL1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124716 BioGRID:126680 DYNLL2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124716 BioGRID:110338 MCL1    BioGRID  PubMed Protein-peptide 
    BioGRID:124716 BioGRID:110728 MYO5A    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activation of BH3-only proteins, organism-specific biosystem (from REACTOME)
      Activation of BH3-only proteins, organism-specific biosystemThe BH3-only members act as sentinels that selectively trigger apoptosis in response to developmental cues or stress-signals like DNA damages. Widely expressed mammalian BH3-only proteins are thought...
    • Activation of BMF and translocation to mitochondria, organism-specific biosystem (from REACTOME)
      Activation of BMF and translocation to mitochondria, organism-specific biosystemIn healthy cells, BMF is bound to the myosin V motor complex through its interaction with DLC2. UV irradiation or anoikis induces MAPK8 (JNK) to phosphorylate Dynein Light Chain 2 (DLC2) to release B...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    activation of pro-apoptotic gene products TAS
    Traceable Author Statement
    more info
    		  
    apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    induction of apoptosis by intracellular signals TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of release of cytochrome c from mitochondria ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    myosin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    bcl-2-modifying factor
    Names
    bcl-2-modifying factor
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001003940.1 → NP_001003940.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1 and 2 encode the longest isoform (bmf-1).
      Source sequence(s)
      AI281003, BC060783, BC069328, BC069505, BC070043, BG744712, BQ064116, CB108463, N41452
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000346697, OTTHUMP00000160316, ENST00000354670, OTTHUMT00000252119

    2. NM_001003942.1 → NP_001003942.1  bcl-2-modifying factor isoform bmf-2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. It encodes a shorter isoform (bmf-2), that is missing an internal segment, compared to isoform bmf-1.
      Source sequence(s)
      AI281003, AK024472, BC060783, BG744712, BQ064116, N41452
      Consensus CDS
      CCDS45223.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000396511, OTTHUMP00000248302, ENST00000431415, OTTHUMT00000418277

    3. NM_001003943.1 → NP_001003943.1  bcl-2-modifying factor isoform bmf-3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. It encodes a shorter isoform (bmf-3), that is missing an internal segment, compared to isoform bmf-1.
      Source sequence(s)
      AI281003, AK024472, BC060783, BG744712, BQ064116, N41452
      Consensus CDS
      CCDS32196.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000220446, ENST00000220446

    4. NM_033503.3 → NP_277038.1  bcl-2-modifying factor isoform bmf-1

      Status: REVIEWED

      Description
      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).
      Source sequence(s)
      AI281003, AK024472, BC060783, BG744712, BQ064116, N41452
      Consensus CDS
      CCDS10052.1
      UniProtKB/Swiss-Prot
      Q96LC9
      Related
      ENSP00000380703, OTTHUMP00000248298, ENST00000397573, OTTHUMT00000418273

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      40380091..40401075, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      17223445..17244430, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC021755.9 (105590..126574) None
    genomic CH471125.1 EAW92393.1
    mRNA AI281003.1 None
    mRNA AK024472.1 BAB15762.1
    mRNA AY029254.1 AAK38748.1
    mRNA AY222040.1 AAP22965.1
    mRNA AY222041.1 AAP22966.1
    mRNA BC060783.1 AAH60783.1
    mRNA BC069328.1 AAH69328.1
    mRNA BC069505.1 AAH69505.1
    mRNA BC070043.1 AAH70043.2
    mRNA BC104983.1 AAI04984.1
    mRNA BC104985.1 AAI04986.1
    mRNA BG744712.1 None
    mRNA BQ064116.1 None
    mRNA CB108463.1 None
    mRNA N41452.1 None
    other-genetic HQ448412.1 ADQ32892.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LC9.1 GenPept UniProtKB/Swiss-Prot:Q96LC9
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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