Homo sapiens Gene: MITF
Summary
InnateDB Gene IDBG-44086.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MITF
Gene Name microphthalmia-associated transcription factor
Synonyms bHLHe32; CMM8; MI; WS2; WS2A;
Species Homo sapiens
Ensembl Gene ENSG00000187098
Encoded Proteins
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:69739435-69968337
Strand Forward strand
Band p13
Transcripts
ENST00000352241 ENSP00000295600
ENST00000328528 ENSP00000327867
ENST00000314589 ENSP00000324443
ENST00000314557 ENSP00000324246
ENST00000394351 ENSP00000377880
ENST00000394348 ENSP00000481286
ENST00000448226 ENSP00000391803
ENST00000429090 ENSP00000407620
ENST00000433517 ENSP00000411389
ENST00000457080 ENSP00000391276
ENST00000451708 ENSP00000398639
ENST00000461511
ENST00000495741
ENST00000472437 ENSP00000418845
ENST00000478490 ENSP00000433487
ENST00000461014
ENST00000531774 ENSP00000435909
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 39 [view]
Protein-Protein 30 [view]
Protein-DNA 7 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0010468 regulation of gene expression
GO:0016055 Wnt signaling pathway
GO:0030154 cell differentiation
GO:0030316 osteoclast differentiation
GO:0030318 melanocyte differentiation
GO:0042127 regulation of cell proliferation
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043473 pigmentation
GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045670 regulation of osteoclast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046849 bone remodeling
Cellular Component
GO:0005634 nucleus
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
KitReceptor pathway
RANKL pathway
REACTOME
KEGG
Osteoclast differentiation pathway
Melanogenesis pathway
Pathways in cancer pathway
Melanoma pathway
INOH
PID BIOCARTA
Melanocyte development and pigmentation pathway [Biocarta view]
PID NCI
Regulation of retinoblastoma protein
Regulation of nuclear beta catenin signaling and target gene transcription
Signaling events mediated by Stem cell factor receptor (c-Kit)
Signaling mediated by p38-alpha and p38-beta
IL6-mediated signaling events
Cross-References
SwissProt
TrEMBL E9PKJ8
UniProt Splice Variant
Entrez Gene 4286
UniGene Hs.166017 Hs.712759
RefSeq NM_000248 NM_001184967 NM_001184968 NM_006722 NM_198158 NM_198159 NM_198177 NM_198178 XM_005264754 XM_005264755 XM_006713164
HUGO HGNC:7105
OMIM 156845
CCDS CCDS2913 CCDS43106 CCDS43107 CCDS46865 CCDS46866 CCDS54607 CCDS74962
HPRD 01138
IMGT
EMBL AC099326 AC104445 AC104449 AC124915
GenPept
RNA Seq Atlas 4286