InnateDB Protein
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IDBP-44090.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MITF
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Protein Name
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microphthalmia-associated transcription factor
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Synonyms
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bHLHe32; CMM8; MI; WS2; WS2A;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000327867
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InnateDB Gene
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IDBG-44086 (MITF)
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Protein Structure
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Function |
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'- CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. {ECO:0000269PubMed:10587587, ECO:0000269PubMed:22647378}.
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Subcellular Localization |
Nucleus.
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Disease Associations |
Waardenburg syndrome 2A (WS2A) [MIM:193510]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. {ECO:0000269PubMed:8589691}. Note=The disease is caused by mutations affecting the gene represented in this entry.Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) [MIM:103470]: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis. Note=The disease is caused by mutations affecting the gene represented in this entry.Tietz syndrome (TIETZS) [MIM:103500]: Autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete. {ECO:0000269PubMed:10851256}. Note=The disease is caused by mutations affecting the gene represented in this entry.Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269PubMed:22012259, ECO:0000269PubMed:22080950}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines. {ECO:0000269PubMed:20163701}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
30
[view]
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Protein-DNA |
7
[view]
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Protein-RNA |
0
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DNA-DNA |
2
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
11 [view]
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Molecular Function |
Accession |
GO Term |
GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0001077
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
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GO:0005515
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protein binding
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GO:0046983
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protein dimerization activity
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Biological Process |
GO:0006355
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regulation of transcription, DNA-templated
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GO:0006461
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protein complex assembly
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GO:0030318
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melanocyte differentiation
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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Cellular Component |
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PDB ID |
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InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
IPR021802
Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE
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PFAM |
PF00010
PF11851
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
O75030
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PhosphoSite |
PhosphoSite-O75030
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TrEMBL |
Q8WYR3
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UniProt Splice Variant |
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Entrez Gene |
4286
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UniGene |
Hs.712759
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RefSeq |
NP_006713
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HUGO |
HGNC:7105
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OMIM |
156845
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CCDS |
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HPRD |
01138
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IMGT |
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EMBL |
AB006909
AB006988
AB006989
AB009608
AB032357
AB032358
AB032359
AC099326
AC104445
AC104449
AC124915
AF034755
AK296129
AL110195
BC026961
BC065243
GU355676
Z29678
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GenPept |
AAC39639
AAH26961
AAH65243
ADB90411
BAA32288
BAA95206
BAA95207
BAA95208
BAA95209
BAB83926
BAG58874
CAA82775
CAB53672
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