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BMF Bcl2 modifying factor [ Homo sapiens (human) ]

Gene ID: 90427, updated on 15-May-2016
Official Symbol
BMFprovided by HGNC
Official Full Name
Bcl2 modifying factorprovided by HGNC
Primary source
HGNC: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
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]
Orthologs
Location:
15q14
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (40087890..40108884, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40380091..40401088, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SRP14 antisense RNA1 (head to head) Neighboring gene uncharacterized LOC102724328 Neighboring gene uncharacterized LOC105370787 Neighboring gene BUB1 mitotic checkpoint serine/threonine kinase B Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene chromosome 15 open reading frame 56

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
NHGRI GWA Catalog
Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
NHGRI GWA Catalog
  • 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...
  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • 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 ...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem (from REACTOME)
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • 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...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle 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
 

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_001003940.1NP_001003940.1  bcl-2-modifying factor isoform bmf-1

    See identical proteins and their annotated locations for NP_001003940.1

    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
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  2. NM_001003942.1NP_001003942.1  bcl-2-modifying factor isoform bmf-2

    See identical proteins and their annotated locations for NP_001003942.1

    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
    Conserved Domains (1) summary
    pfam15185
    Location:2163
    BMF; Bcl-2-modifying factor, apoptosis
  3. NM_001003943.2NP_001003943.1  bcl-2-modifying factor isoform bmf-3

    See identical proteins and their annotated locations for NP_001003943.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding exon, compared to variant 1. It encodes a shorter isoform (bmf-3), compared to isoform bmf-1.
    Source sequence(s)
    AC021755, AY222041, BC060783, BP280415, HY090235
    Consensus CDS
    CCDS32196.1
    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000453919, OTTHUMP00000248303, ENST00000559701, OTTHUMT00000418278
    Conserved Domains (1) summary
    pfam15185
    Location:2100
    BMF; Bcl-2-modifying factor, apoptosis
  4. NM_033503.3NP_277038.1  bcl-2-modifying factor isoform bmf-1

    See identical proteins and their annotated locations for NP_277038.1

    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
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    40087890..40108884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720734.1XP_006720797.1  

    See identical proteins and their annotated locations for XP_006720797.1

    UniProtKB/Swiss-Prot
    Q96LC9
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  2. XM_006720733.1XP_006720796.1  

    See identical proteins and their annotated locations for XP_006720796.1

    UniProtKB/Swiss-Prot
    Q96LC9
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  3. XM_005254761.3XP_005254818.1  

    See identical proteins and their annotated locations for XP_005254818.1

    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000453892, OTTHUMP00000248299, ENST00000561360, OTTHUMT00000418274
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  4. XM_005254760.3XP_005254817.1  

    See identical proteins and their annotated locations for XP_005254817.1

    UniProtKB/Swiss-Prot
    Q96LC9
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    40499972..40520967 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)