Gene: Bmi1

Basic information

Tag Content
Uniprot ID P25916
Entrez ID 12151
Genbank protein ID AAA37300.1; AAH56384.1; AAH53708.1; AAA37301.1; AAA37299.1;
Genbank nucleotide ID XM_006497311.2; NM_007552.4; XM_006497312.3;
Ensembl protein ID ENSMUSP00000110300; ENSMUSP00000028071;
Ensembl nucleotide ID ENSMUSG00000026739
Gene name Polycomb complex protein BMI-1
Gene symbol Bmi1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 11290297
Functional description Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (By similarity).
Sequence
MHRTTRIKIT ELNPHLMCVL CGGYFIDATT IIECLHSFCK TCIVRYLETS KYCPICDVQV 60
HKTRPLLNIR SDKTLQDIVY KLVPGLFKNE MKRRRDFYAA HPSADAANGS NEDRGEVADE 120
EKRIITDDEI ISLSIEFFDQ SRLDRKVNKE KPKEEVNDKR YLRCPAAMTV MHLRKFLRSK 180
MDIPNTFQID VMYEEEPLKD YYTLMDIAYI YTWRRNGPLP LKYRVRPTCK RMKMSHQRDG 240
LTNAGELESD SGSDKANSPA GGVPSTSSCL PSPSTPVQSP HPQFPHISST MNGTSNSPSA 300
NHQSSFASRP RKSSLNGSSA TSSG 324

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBMI1510666Q32KX7Bos taurusPredictionMore>>
1:1 orthologCOMMD3487097E2RTM4Canis lupus familiarisPredictionMore>>
1:1 orthologBMI1102191809A0A452EWQ5Capra hircusPredictionMore>>
1:1 orthologCOMMD3-BMI1100532731R4GMX3Homo sapiensPredictionMore>>
1:1 orthologBmi112151P25916CPOE14.5Mus musculusPublicationMore>>
1:1 orthologBMI1466023A0A2I3SRC0Pan troglodytesPredictionMore>>
1:1 orthologBMI1A0A287A130Sus scrofaPredictionMore>>
1:1 orthologBMI1100009347G1SNW4Oryctolagus cuniculusPredictionMore>>
1:1 orthologBmi1307151B4F7B6Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0003682 chromatin bindingIDA
GO:0005515 protein bindingIPI
GO:0008270 zinc ion bindingISS
GO:0043565 sequence-specific DNA bindingIDA
GO:0097027 ubiquitin-protein transferase activator activityIDA
GO:1990841 promoter-specific chromatin bindingISS
GO:1990841 promoter-specific chromatin bindingIBA
GO:1990841 promoter-specific chromatin bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIGI
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0001501 skeletal system developmentIMP
GO:0001701 in utero embryonic developmentIGI
GO:0006306 DNA methylationIMP
GO:0006342 chromatin silencingIBA
GO:0006959 humoral immune responseIMP
GO:0007420 brain developmentIMP
GO:0009987 cellular processTAS
GO:0016573 histone acetylationIGI
GO:0016574 histone ubiquitinationIDA
GO:0021903 rostrocaudal neural tube patterningIMP
GO:0030890 positive regulation of B cell proliferationIMP
GO:0033092 positive regulation of immature T cell proliferation in thymusIMP
GO:0036353 histone H2A-K119 monoubiquitinationISS
GO:0036353 histone H2A-K119 monoubiquitinationIBA
GO:0045814 negative regulation of gene expression, epigeneticISS
GO:0048103 somatic stem cell divisionIMP
GO:0048704 embryonic skeletal system morphogenesisIGI
GO:0048706 embryonic skeletal system developmentIGI
GO:0051443 positive regulation of ubiquitin-protein transferase activityISS
GO:0061484 hematopoietic stem cell homeostasisISO
GO:0071347 cellular response to interleukin-1IEA
GO:0071549 cellular response to dexamethasone stimulusIEA
GO:2000011 regulation of adaxial/abaxial pattern formationIGI
GO:2001234 negative regulation of apoptotic signaling pathwayIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0000151 ubiquitin ligase complexISS
GO:0000151 ubiquitin ligase complexIDA
GO:0000792 heterochromatinIDA
GO:0005634 nucleusISO
GO:0005737 cytoplasmIEA
GO:0016604 nuclear bodyIDA
GO:0031519 PcG protein complexIDA
GO:0035102 PRC1 complexIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1257604 PIP3 activates AKT signalingIEA
R-MMU-162582 Signal TransductionIEA
R-MMU-212436 Generic Transcription PathwayIEA
R-MMU-2262752 Cellular responses to stressIEA
R-MMU-2559580 Oxidative Stress Induced SenescenceIEA
R-MMU-2559583 Cellular SenescenceIEA
R-MMU-2990846 SUMOylationIEA
R-MMU-3108214 SUMOylation of DNA damage response and repair proteinsIEA
R-MMU-3108232 SUMO E3 ligases SUMOylate target proteinsIEA
R-MMU-3899300 SUMOylation of transcription cofactorsIEA
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-4551638 SUMOylation of chromatin organization proteinsIEA
R-MMU-4570464 SUMOylation of RNA binding proteinsIEA
R-MMU-597592 Post-translational protein modificationIEA
R-MMU-6807070 PTEN RegulationIEA
R-MMU-73857 RNA Polymerase II TranscriptionIEA
R-MMU-74160 Gene expression (Transcription)IEA
R-MMU-8878171 Transcriptional regulation by RUNX1IEA
R-MMU-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownIEA
R-MMU-8943724 Regulation of PTEN gene transcriptionIEA
R-MMU-8953750 Transcriptional Regulation by E2F6IEA
R-MMU-8953897 Cellular responses to external stimuliIEA
R-MMU-9006925 Intracellular signaling by second messengersIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0156 Chromatin regulator
KW-0963 Cytoplasm
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0656 Proto-oncogene
KW-1185 Reference proteome
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR032443 RAWUL
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

PROSITE

PROSITE ID PROSITE Term
PS00518 ZF_RING_1
PS50089 ZF_RING_2

Pfam

Pfam ID Pfam Term
PF16207 RAWUL

Protein-protein interaction

Protein-miRNA interaction