Homo sapiens Protein: MAFB
Summary
InnateDB Protein IDBP-75126.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAFB
Protein Name v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
Synonyms KRML; MCTO;
Species Homo sapiens
Ensembl Protein ENSP00000362410
InnateDB Gene IDBG-75124 (MAFB)
Protein Structure
UniProt Annotation
Function 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, 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 (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. {ECO:0000250, ECO:0000269PubMed:19143053}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00978}.
Disease Associations Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. {ECO:0000269PubMed:22387013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous. {ECO:0000269PubMed:10444328}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 21 [view]
Protein-Protein 19 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007379 segment specification
GO:0007423 sensory organ development
GO:0007585 respiratory gaseous exchange
GO:0021571 rhombomere 5 development
GO:0021572 rhombomere 6 development
GO:0033077 T cell differentiation in thymus
GO:0035284 brain segmentation
GO:0042472 inner ear morphogenesis
GO:0045087 innate immune response (InnateDB)
GO:0045647 negative regulation of erythrocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048538 thymus development
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Protein Structure and Domains
PDB ID
InterPro IPR004826 Basic leucine zipper domain, Maf-type
IPR004827 Basic-leucine zipper domain
IPR008917 Transcription factor, Skn-1-like, DNA-binding domain
IPR013592 Maf transcription factor, N-terminal
PFAM PF03131
PF00170
PF07716
PF08383
PRINTS
PIRSF
SMART SM00338
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y5Q3
PhosphoSite PhosphoSite-Q9Y5Q3
TrEMBL
UniProt Splice Variant
Entrez Gene 9935
UniGene Hs.718691
RefSeq NP_005452
HUGO HGNC:6408
OMIM 608968
CCDS CCDS13311
HPRD 07129
IMGT
EMBL AF134157 AK027324 AL035665 BC028098 BC036689 CH471077
GenPept AAD30106 AAH28098 AAH36689 BAG51303 CAB75863 EAW76000