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
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;
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.
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
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