Gene: Mafb

Basic information

Tag Content
Uniprot ID P54841; Q3U3C8; Q3UPT9;
Entrez ID 16658
Genbank protein ID EDL06288.1; AAH16434.1; BAE25306.1; AAH38256.1; BAE32860.1; BAE21161.1; AAD56221.1; AAA65689.1;
Genbank nucleotide ID NM_010658.3
Ensembl protein ID ENSMUSP00000096728
Ensembl nucleotide ID ENSMUSG00000074622
Gene name Transcription factor MafB
Gene symbol Mafb
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (PubMed:11823429).
Sequence
MAAELSMGQE LPTSPLAMEY VNDFDLLKFD VKKEPLGRAE RPGRPCTRLQ PAGSVSSTPL 60
STPCSSVPSS PSFSPTEPKT HLEDLYWMAS NYQQMNPEAL NLTPEDAVEA LIGSHPVPQP 120
LQSFDGFRSA HHHHHHHHPH PHHGYPGAGV THDDLGQHAH PHHHHHHQAS PPPSSAASPA 180
QQLPTSHPGP GPHATAAATA AGGNGSVEDR FSDDQLVSMS VRELNRHLRG FTKDEVIRLK 240
QKRRTLKNRG YAQSCRYKRV QQKHHLENEK TQLIQQVEQL KQEVSRLARE RDAYKVKCEK 300
LANSGFREAG STSDSPSSPE FFL 323

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.

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 orthologMAFB532376F1N054Bos taurusPredictionMore>>
1:1 orthologMAFBA0A452EFD6Capra hircusPredictionMore>>
1:1 orthologMAFB9935Q9Y5Q3CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologMafb16658P54841Mus musculusPredictionMore>>
1:1 orthologMAFB469941H2R8Y7Pan troglodytesPredictionMore>>
1:1 orthologA0A4X1TQX0Sus scrofaPredictionMore>>
1:1 orthologMafb54264P54842Rattus norvegicusPredictionMore>>
1:1 orthologmafbQ98UK5Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
MAFBrs6065259Mini-sequencing24972815
MAFBrs13041247Mini-sequencing24972815
MAFBrs13041247T>CGenotyping and sequencing21834038
MAFBrs17820943C>TGWAS31609978
MAFBrs6129653G>AGWAS28232668
MAFBrs13041247Genotyping and GWAS20436469
MAFBrs17820943C>T (reduce risk)Genotyping and GWAS32646788
MAFBrs6072081A>G (reduce risk)Genotyping and GWAS32646788
MAFBrs13041247T>C (reduce risk)Genotyping and GWAS32646788
MAFBrs13041247T>C (reduce risk)meta analysis31387249
MAFBc.493C>G; p.His165AsnGWAS25081408
MAFBrs11696257Genotyping21567910
MAFBrs13041247Genotyping21567910
MAFBrs6016399Genotyping and GWAS27033726
MAFBrs11698990Genotyping and GWAS27033726
MAFB rs6102085Genotyping and GWAS27033726
MAFBrs4810299Genotyping and GWAS27033726
MAFBrs13041247GWAS20436469
MAFBrs6072081GWAS20436469
MAFBrs6065259GWAS20436469
MAFBrs17820943GWAS20436469
MAFBrs11696257GWAS20436469
MAFBrs6102085GWAS20436469

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 bindingIMP
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIBA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISO
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIMP
GO:0003677 DNA bindingIDA
GO:0003700 DNA-binding transcription factor activityIBA
GO:0005515 protein bindingIPI
GO:0008134 transcription factor bindingISO
GO:0042802 identical protein bindingISO
GO:0043565 sequence-specific DNA bindingIBA
GO:0044877 protein-containing complex bindingISO
GO:1990837 sequence-specific double-stranded DNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006355 regulation of transcription, DNA-templatedISO
GO:0006357 regulation of transcription by RNA polymerase IIIDA
GO:0007379 segment specificationIMP
GO:0007585 respiratory gaseous exchange by respiratory systemIMP
GO:0021571 rhombomere 5 developmentIMP
GO:0021572 rhombomere 6 developmentIMP
GO:0021599 abducens nerve formationIMP
GO:0033077 T cell differentiation in thymusIMP
GO:0035284 brain segmentationIMP
GO:0042472 inner ear morphogenesisIMP
GO:0045647 negative regulation of erythrocyte differentiationISO
GO:0045671 negative regulation of osteoclast differentiationIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048538 thymus developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmTAS
GO:0005667 transcription factor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0010 Activator
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0539 Nucleus
KW-0656 Proto-oncogene
KW-1185 Reference proteome
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0043 Tumor suppressor
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028571 MafB
IPR008917 TF_DNA-bd_sf
IPR024874 Transcription_factor_Maf_fam

PROSITE

PROSITE ID PROSITE Term
PS50217 BZIP

Pfam

Pfam ID Pfam Term
PF03131 bZIP_Maf
PF08383 Maf_N

Protein-protein interaction

Protein-miRNA interaction