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BMF Bcl2 modifying factor [ Homo sapiens (human) ]

Gene ID: 90427, updated on 5-Aug-2022

Summary

Official Symbol
BMFprovided by HGNC
Official Full Name
Bcl2 modifying factorprovided by HGNC
Primary source
HGNC:HGNC:24132
See related
Ensembl:ENSG00000104081 MIM:606266; AllianceGenome:HGNC:24132
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]
Expression
Ubiquitous expression in endometrium (RPKM 8.6), bone marrow (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

See BMF in Genome Data Viewer
Location:
15q15.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40087890..40108879, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (37894726..37915713, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40380091..40401080, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SRP14 divergent transcript Neighboring gene uncharacterized LOC105370787 Neighboring gene VISTA enhancer hs1611 Neighboring gene MT-ND5 pseudogene 37 Neighboring gene MT-ND4 pseudogene 37

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
EBI GWAS Catalog
Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
part_of myosin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of myosin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001003940.2NP_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)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q96LC9, Q9H7K7
    Related
    ENSP00000346697.4, ENST00000354670.9
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  2. NM_001003942.2NP_001003942.1  bcl-2-modifying factor isoform bmf-2

    See identical proteins and their annotated locations for NP_001003942.1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS45223.1
    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000396511.3, ENST00000431415.3
    Conserved Domains (1) summary
    pfam15185
    Location:2163
    BMF; Bcl-2-modifying factor, apoptosis
  3. NM_001003943.3NP_001003943.1  bcl-2-modifying factor isoform bmf-3

    See identical proteins and their annotated locations for NP_001003943.1

    Status: REVIEWED

    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
    Consensus CDS
    CCDS32196.1
    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000453919.1, ENST00000559701.5
    Conserved Domains (1) summary
    pfam15185
    Location:2129
    BMF; Bcl-2-modifying factor, apoptosis
  4. NM_001398495.1NP_001385424.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  5. NM_001398496.1NP_001385425.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  6. NM_001398497.1NP_001385426.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  7. NM_001398498.1NP_001385427.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  8. NM_001398499.1NP_001385428.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  9. NM_001398500.1NP_001385429.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  10. NM_001398501.1NP_001385430.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  11. NM_001398502.1NP_001385431.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  12. NM_001398503.1NP_001385432.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  13. NM_001398504.1NP_001385433.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  14. NM_001398505.1NP_001385434.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  15. NM_001398506.1NP_001385435.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  16. NM_001398507.1NP_001385436.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    UniProtKB/Swiss-Prot
    Q9H7K7
    Related
    ENSP00000453892.1, ENST00000561360.5
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis
  17. NM_001398508.1NP_001385437.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Related
    ENSP00000453913.1, ENST00000558774.5
    Conserved Domains (1) summary
    pfam15185
    Location:2129
    BMF; Bcl-2-modifying factor, apoptosis
  18. NM_001398509.1NP_001385438.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Conserved Domains (1) summary
    pfam15185
    Location:2129
    BMF; Bcl-2-modifying factor, apoptosis
  19. NM_001398510.1NP_001385439.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Conserved Domains (1) summary
    pfam15185
    Location:2129
    BMF; Bcl-2-modifying factor, apoptosis
  20. NM_033503.4NP_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)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q96LC9, Q9H7K7
    Related
    ENSP00000380703.1, ENST00000397573.5
    Conserved Domains (1) summary
    pfam15185
    Location:2184
    BMF; Bcl-2-modifying factor, apoptosis

RNA

  1. NR_174113.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755
  2. NR_174114.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755
  3. NR_174115.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755
  4. NR_174116.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40087890..40108879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433273.1XP_047289229.1  bcl-2-modifying factor isoform X3

  2. XM_047433270.1XP_047289226.1  bcl-2-modifying factor isoform X1

  3. XM_047433271.1XP_047289227.1  bcl-2-modifying factor isoform X1

  4. XM_047433272.1XP_047289228.1  bcl-2-modifying factor isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    37894726..37915713 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)