Homo sapiens Gene: MAF
Summary
InnateDB Gene IDBG-43180.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAF
Gene Name v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
Synonyms c-MAF; CCA4
Species Homo sapiens
Ensembl Gene ENSG00000178573
Encoded Proteins
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:79585843-79600714
Strand Reverse strand
Band q23.2
Transcripts
ENST00000326043 ENSP00000327048
ENST00000393350 ENSP00000377019
ENST00000569649 ENSP00000455097
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Calcineurin-regulated NFAT-dependent transcription in lymphocytes
AP-1 transcription factor network
C-MYB transcription factor network
Cross-References
SwissProt O75444
TrEMBL
UniProt Splice Variant
Entrez Gene 4094
UniGene Hs.134859
RefSeq NM_001031804 NM_005360
HUGO HGNC:6776
OMIM 177075
CCDS CCDS42198 CCDS10928
HPRD 01518
IMGT
EMBL AC009159 AF055376 AF055377 AF055378 BC081542
GenPept AAC27037 AAC27038 AAC27039 AAH81542
RNA Seq Atlas 4094