BMF_HUMAN
ID BMF_HUMAN Reviewed; 184 AA.
AC Q96LC9; Q2M396; Q6NT30; Q6NT56; Q6P9F6; Q7Z7D4; Q7Z7D5; Q9H7K7;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Bcl-2-modifying factor;
GN Name=BMF;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=T-cell;
RX PubMed=11546872; DOI=10.1126/science.1062257;
RA Puthalakath H., Villunger A., O'Reilly L.A., Beaumont J.G., Coultas L.,
RA Cheney R.E., Huang D.C.S., Strasser A.;
RT "Bmf: a proapoptotic BH3-only protein regulated by interaction with the
RT myosin V actin motor complex, activated by anoikis.";
RL Science 293:1829-1832(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), AND TISSUE SPECIFICITY.
RC TISSUE=B-cell;
RX PubMed=14574334; DOI=10.1038/sj.leu.2403183;
RA Morales A.A., Olsson A., Celsing F., Oesterborg A., Jondal M., Osorio L.M.;
RT "Expression and transcriptional regulation of functionally distinct Bmf
RT isoforms in B-chronic lymphocytic leukemia cells.";
RL Leukemia 18:41-47(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Spleen;
RX PubMed=11214971; DOI=10.1093/dnares/7.6.357;
RA Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen.";
RL DNA Res. 7:357-366(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May play a role in apoptosis. Isoform 1 seems to be the main
CC initiator.
CC -!- SUBUNIT: Interacts with MCL1, BCL2, BCL2L1/BCL-Xl, BCL2A1 and
CC BCL2L2/BCL-w. Interacts with the myosin V actin motor complex through
CC its binding to DLC2 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q96LC9; Q92870-2: APBB2; NbExp=3; IntAct=EBI-3919268, EBI-21535880;
CC Q96LC9; P29972: AQP1; NbExp=3; IntAct=EBI-3919268, EBI-745213;
CC Q96LC9; A0A0S2Z3D2: BCL2L1; NbExp=3; IntAct=EBI-3919268, EBI-16431449;
CC Q96LC9; Q07817: BCL2L1; NbExp=12; IntAct=EBI-3919268, EBI-78035;
CC Q96LC9; Q9HD36: BCL2L10; NbExp=3; IntAct=EBI-3919268, EBI-2126349;
CC Q96LC9; Q92843: BCL2L2; NbExp=13; IntAct=EBI-3919268, EBI-707714;
CC Q96LC9; P78358: CTAG1B; NbExp=3; IntAct=EBI-3919268, EBI-1188472;
CC Q96LC9; P63167: DYNLL1; NbExp=3; IntAct=EBI-3919268, EBI-349105;
CC Q96LC9; Q96FJ2: DYNLL2; NbExp=3; IntAct=EBI-3919268, EBI-742371;
CC Q96LC9; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-3919268, EBI-347538;
CC Q96LC9; P28799: GRN; NbExp=3; IntAct=EBI-3919268, EBI-747754;
CC Q96LC9; P04792: HSPB1; NbExp=3; IntAct=EBI-3919268, EBI-352682;
CC Q96LC9; O60333-2: KIF1B; NbExp=3; IntAct=EBI-3919268, EBI-10975473;
CC Q96LC9; O14901: KLF11; NbExp=3; IntAct=EBI-3919268, EBI-948266;
CC Q96LC9; P80188: LCN2; NbExp=3; IntAct=EBI-3919268, EBI-11911016;
CC Q96LC9; Q07820: MCL1; NbExp=3; IntAct=EBI-3919268, EBI-1003422;
CC Q96LC9; Q7Z412: PEX26; NbExp=3; IntAct=EBI-3919268, EBI-752057;
CC Q96LC9; Q6P9E2: RECK; NbExp=3; IntAct=EBI-3919268, EBI-10253121;
CC Q96LC9; Q04864: REL; NbExp=3; IntAct=EBI-3919268, EBI-307352;
CC Q96LC9; Q9UDX3: SEC14L4; NbExp=3; IntAct=EBI-3919268, EBI-10320311;
CC Q96LC9; Q92529: SHC3; NbExp=3; IntAct=EBI-3919268, EBI-79084;
CC Q96LC9; Q9UBB9: TFIP11; NbExp=7; IntAct=EBI-3919268, EBI-1105213;
CC Q96LC9; O76024: WFS1; NbExp=3; IntAct=EBI-3919268, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=BMF-I;
CC IsoId=Q96LC9-1; Sequence=Displayed;
CC Name=2; Synonyms=BMF-II;
CC IsoId=Q96LC9-2; Sequence=VSP_012292;
CC Name=3; Synonyms=BMF-III;
CC IsoId=Q96LC9-3; Sequence=VSP_012293, VSP_012294;
CC -!- TISSUE SPECIFICITY: Isoform 1 is mainly expressed in B-lymphoid cells.
CC Isoform 2 and isoform 3 are mainly expressed in B-CLL and normal B-
CC cells. {ECO:0000269|PubMed:14574334}.
CC -!- SIMILARITY: Belongs to the Bcl-2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH60783.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15762.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY029254; AAK38748.1; -; mRNA.
DR EMBL; AY222040; AAP22965.1; -; mRNA.
DR EMBL; AY222041; AAP22966.1; -; mRNA.
DR EMBL; AK024472; BAB15762.1; ALT_INIT; mRNA.
DR EMBL; BC060783; AAH60783.1; ALT_INIT; mRNA.
DR EMBL; BC069328; AAH69328.1; -; mRNA.
DR EMBL; BC069505; AAH69505.1; -; mRNA.
DR EMBL; BC070043; AAH70043.2; -; mRNA.
DR EMBL; BC104983; AAI04984.1; -; mRNA.
DR EMBL; BC104985; AAI04986.1; -; mRNA.
DR CCDS; CCDS10052.1; -. [Q96LC9-1]
DR CCDS; CCDS32196.1; -. [Q96LC9-3]
DR CCDS; CCDS45223.1; -. [Q96LC9-2]
DR RefSeq; NP_001003940.1; NM_001003940.1. [Q96LC9-1]
DR RefSeq; NP_001003942.1; NM_001003942.1. [Q96LC9-2]
DR RefSeq; NP_001003943.1; NM_001003943.2. [Q96LC9-3]
DR RefSeq; NP_277038.1; NM_033503.3. [Q96LC9-1]
DR PDB; 7CNU; X-ray; 2.00 A; C=63-82.
DR PDBsum; 7CNU; -.
DR AlphaFoldDB; Q96LC9; -.
DR SMR; Q96LC9; -.
DR BioGRID; 124716; 29.
DR IntAct; Q96LC9; 27.
DR STRING; 9606.ENSP00000346697; -.
DR iPTMnet; Q96LC9; -.
DR PhosphoSitePlus; Q96LC9; -.
DR BioMuta; BMF; -.
DR MassIVE; Q96LC9; -.
DR PaxDb; Q96LC9; -.
DR PeptideAtlas; Q96LC9; -.
DR PRIDE; Q96LC9; -.
DR ProteomicsDB; 77201; -. [Q96LC9-1]
DR ProteomicsDB; 77202; -. [Q96LC9-2]
DR ProteomicsDB; 77203; -. [Q96LC9-3]
DR Antibodypedia; 1506; 477 antibodies from 39 providers.
DR DNASU; 90427; -.
DR Ensembl; ENST00000354670.9; ENSP00000346697.4; ENSG00000104081.14. [Q96LC9-1]
DR Ensembl; ENST00000397573.5; ENSP00000380703.1; ENSG00000104081.14. [Q96LC9-1]
DR Ensembl; ENST00000431415.3; ENSP00000396511.3; ENSG00000104081.14. [Q96LC9-2]
DR Ensembl; ENST00000558774.5; ENSP00000453913.1; ENSG00000104081.14. [Q96LC9-3]
DR Ensembl; ENST00000559701.5; ENSP00000453919.1; ENSG00000104081.14. [Q96LC9-3]
DR Ensembl; ENST00000561282.5; ENSP00000453522.1; ENSG00000104081.14. [Q96LC9-1]
DR Ensembl; ENST00000561360.5; ENSP00000453892.1; ENSG00000104081.14. [Q96LC9-1]
DR GeneID; 90427; -.
DR KEGG; hsa:90427; -.
DR MANE-Select; ENST00000354670.9; ENSP00000346697.4; NM_001003940.2; NP_001003940.1.
DR UCSC; uc001zkt.6; human. [Q96LC9-1]
DR CTD; 90427; -.
DR DisGeNET; 90427; -.
DR GeneCards; BMF; -.
DR HGNC; HGNC:24132; BMF.
DR HPA; ENSG00000104081; Tissue enhanced (lymphoid).
DR MIM; 606266; gene.
DR neXtProt; NX_Q96LC9; -.
DR OpenTargets; ENSG00000104081; -.
DR PharmGKB; PA134893658; -.
DR VEuPathDB; HostDB:ENSG00000104081; -.
DR eggNOG; ENOG502S0P3; Eukaryota.
DR GeneTree; ENSGT00390000017896; -.
DR HOGENOM; CLU_090680_0_0_1; -.
DR InParanoid; Q96LC9; -.
DR OMA; HRLHMQR; -.
DR OrthoDB; 1454053at2759; -.
DR PhylomeDB; Q96LC9; -.
DR TreeFam; TF336039; -.
DR PathwayCommons; Q96LC9; -.
DR Reactome; R-HSA-111453; BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members.
DR Reactome; R-HSA-139910; Activation of BMF and translocation to mitochondria.
DR SignaLink; Q96LC9; -.
DR SIGNOR; Q96LC9; -.
DR BioGRID-ORCS; 90427; 29 hits in 1072 CRISPR screens.
DR GeneWiki; BMF_(gene); -.
DR GenomeRNAi; 90427; -.
DR Pharos; Q96LC9; Tbio.
DR PRO; PR:Q96LC9; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q96LC9; protein.
DR Bgee; ENSG00000104081; Expressed in monocyte and 116 other tissues.
DR ExpressionAtlas; Q96LC9; baseline and differential.
DR Genevisible; Q96LC9; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005741; C:mitochondrial outer membrane; TAS:Reactome.
DR GO; GO:0016459; C:myosin complex; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0043276; P:anoikis; IDA:MGI.
DR GO; GO:0034644; P:cellular response to UV; IDA:CAFA.
DR GO; GO:0010507; P:negative regulation of autophagy; IDA:CAFA.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IMP:BHF-UCL.
DR GO; GO:0031334; P:positive regulation of protein-containing complex assembly; ISS:BHF-UCL.
DR GO; GO:0090200; P:positive regulation of release of cytochrome c from mitochondria; ISS:BHF-UCL.
DR InterPro; IPR028192; BMF.
DR PANTHER; PTHR32014; PTHR32014; 1.
DR Pfam; PF15185; BMF; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Apoptosis; Reference proteome.
FT CHAIN 1..184
FT /note="Bcl-2-modifying factor"
FT /id="PRO_0000143111"
FT REGION 67..75
FT /note="Interaction with DLC2"
FT /evidence="ECO:0000250"
FT MOTIF 133..147
FT /note="BH3"
FT VAR_SEQ 98..129
FT /note="GNAGYRLPLPASFPAVLPIGEQPPEGQWQHQA -> APAEPKSCVVADPPLP
FT AQPCFEWRREQERGRP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14574334"
FT /id="VSP_012293"
FT VAR_SEQ 130..184
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14574334"
FT /id="VSP_012294"
FT VAR_SEQ 131..151
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14574334"
FT /id="VSP_012292"
FT CONFLICT 61
FT /note="R -> Q (in Ref. 4; AAH69328)"
FT /evidence="ECO:0000305"
FT CONFLICT 80
FT /note="Q -> P (in Ref. 4; AAH69505)"
FT /evidence="ECO:0000305"
FT STRAND 66..71
FT /evidence="ECO:0007829|PDB:7CNU"
SQ SEQUENCE 184 AA; 20508 MW; 21479B25CC727853 CRC64;
MEPSQCVEEL EDDVFQPEDG EPVTQPGSLL SADLFAQSLL DCPLSRLQLF PLTHCCGPGL
RPTSQEDKAT QTLSPASPSQ GVMLPCGVTE EPQRLFYGNA GYRLPLPASF PAVLPIGEQP
PEGQWQHQAE VQIARKLQCI ADQFHRLHVQ QHQQNQNRVW WQILLFLHNL ALNGEENRNG
AGPR
