InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MAF

Summary

InnateDB Protein

IDBP-43182.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MAF

Protein Name

v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)

Synonyms

c-MAF; CCA4;

Species

Homo sapiens

Ensembl Protein

ENSP00000327048

InnateDB Gene

IDBG-43180 (MAF)

Protein Structure

UniProt Annotation

Function

Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)- mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters. {ECO:0000250, ECO:0000269PubMed:12149651, ECO:0000269PubMed:14998494, ECO:0000269PubMed:15007382, ECO:0000269PubMed:16247450, ECO:0000269PubMed:19143053}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00978}.

Disease Associations

Note=A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus.Cataract 21, multiple types (CTRCT21) [MIM:610202]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269PubMed:11772997, ECO:0000269PubMed:16470690}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in endothelial cells. {ECO:0000269PubMed:17897790}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	32 [view]
Protein-Protein	26 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [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:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001816	cytokine production
GO:0002088	lens development in camera-type eye
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0010628	positive regulation of gene expression
GO:0032330	regulation of chondrocyte differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048468	cell development
GO:0048839	inner ear development
GO:0070306	lens fiber cell differentiation

Cellular Component

GO:0000785	chromatin
GO:0005634	nucleus
GO:0005737	cytoplasm

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

O75444