Human Gene BMF (ENST00000559701.5) from GENCODE V44
  Description: May play a role in apoptosis. Isoform 1 seems to be the main initiator. (from UniProt Q96LC9)
RefSeq Summary (NM_001003943): 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].
Gencode Transcript: ENST00000559701.5
Gencode Gene: ENSG00000104081.14
Transcript (Including UTRs)
   Position: hg38 chr15:40,091,791-40,108,879 Size: 17,089 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr15:40,091,791-40,106,086 Size: 14,296 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:40,091,791-40,108,879)mRNA (may differ from genome)Protein (129 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMGIneXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BMF_HUMAN
DESCRIPTION: RecName: Full=Bcl-2-modifying factor;
FUNCTION: May play a role in apoptosis. Isoform 1 seems to be the main initiator.
SUBUNIT: Interacts with MCL1, BCL2, BCL2L1/BCL-Xl, BCL2A1 and BCL2L2/BCL-w. Interacts with the myosin V actin motor complex through its binding to DLC2 (By similarity).
TISSUE SPECIFICITY: Isoform 1 is mainly expressed in B-lymphoid cells. Isoform 2 and isoform 3 are mainly expressed in B-CLL and normal B-cells.
SIMILARITY: Belongs to the Bcl-2 family.
SEQUENCE CAUTION: Sequence=AAH60783.1; Type=Erroneous initiation; Sequence=BAB15762.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C006253 pirinixic acid
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C035207 4-amino-2,6-dinitrotoluene
  • D000638 Amiodarone
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.25 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 162.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -91.40240-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q96LC9
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:0006915 apoptotic process
GO:0010507 negative regulation of autophagy
GO:0032464 positive regulation of protein homooligomerization
GO:0034644 cellular response to UV
GO:0043065 positive regulation of apoptotic process
GO:0043276 anoikis
GO:0090200 positive regulation of release of cytochrome c from mitochondria
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016459 myosin complex


-  Descriptions from all associated GenBank mRNAs
  BC060783 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone IMAGE:30343180), partial cds.
BC070043 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone MGC:87085 IMAGE:30344794), complete cds.
AK024472 - Homo sapiens FLJ00065 mRNA for FLJ00065 protein.
BC069328 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone MGC:96952 IMAGE:7262161), complete cds.
BC069505 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone MGC:96964 IMAGE:7262173), complete cds.
BC104985 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone MGC:132645 IMAGE:8143988), complete cds.
BC104983 - Homo sapiens Bcl2 modifying factor, mRNA (cDNA clone MGC:132643 IMAGE:8143986), complete cds.
JD307549 - Sequence 288573 from Patent EP1572962.
JD468216 - Sequence 449240 from Patent EP1572962.
AY029254 - Homo sapiens Bcl-2 modifying factor (BMF) mRNA, complete cds.
AY222040 - Homo sapiens Bcl-2 modifying factor-II (BMF) mRNA, complete cds; alternatively spliced.
CU686755 - Synthetic construct Homo sapiens gateway clone IMAGE:100022549 5' read BMF mRNA.
CU686862 - Synthetic construct Homo sapiens gateway clone IMAGE:100022608 5' read BMF mRNA.
HQ448412 - Synthetic construct Homo sapiens clone IMAGE:100071839; CCSB013834_01 Bcl2 modifying factor (BMF) gene, encodes complete protein.
KJ899903 - Synthetic construct Homo sapiens clone ccsbBroadEn_09297 BMF gene, encodes complete protein.
KJ906387 - Synthetic construct Homo sapiens clone ccsbBroadEn_16057 BMF gene, encodes complete protein.
KJ906386 - Synthetic construct Homo sapiens clone ccsbBroadEn_16056 BMF gene, encodes complete protein.
AB590060 - Synthetic construct DNA, clone: pFN21AF0065, Homo sapiens BMF gene for Bcl2 modifying factor, without stop codon, in Flexi system.
AY222041 - Homo sapiens Bcl-2 modifying factor-III (BMF) mRNA, complete cds; alternatively spliced.
JD332992 - Sequence 314016 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96LC9 (Reactome details) participates in the following event(s):

R-HSA-139909 Translocation of BMF to mitochondria
R-HSA-139908 Phosphorylation of DLC2 by MAPK8
R-HSA-508163 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2
R-HSA-139910 Activation of BMF and translocation to mitochondria
R-HSA-114452 Activation of BH3-only proteins
R-HSA-111453 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: BMF_HUMAN, ENST00000559701.1, ENST00000559701.2, ENST00000559701.3, ENST00000559701.4, NM_001398510, Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7, uc001zku.1, uc001zku.2, uc001zku.3, uc001zku.4, uc001zku.5, uc001zku.6
UCSC ID: ENST00000559701.5
RefSeq Accession: NM_001003943
Protein: Q96LC9 (aka BMF_HUMAN)
CCDS: CCDS32196.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.