InnateDB: Systems Biology of the Innate Immune Response

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