InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MITF

Summary

InnateDB Protein

IDBP-241749.6

Last Modified

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

Gene Symbol

MITF

Protein Name

microphthalmia-associated transcription factor

Synonyms

bHLHe32; CMM8; MI; WS2; WS2A;

Species

Homo sapiens

Ensembl Protein

ENSP00000377880

InnateDB Gene

IDBG-44086 (MITF)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Nucleus.

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.

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}.

Comments

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:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0005515	protein binding
GO:0046983	protein dimerization activity

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006461	protein complex assembly
GO:0030318	melanocyte differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter