InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-44088

microphthalmia-associated transcription factor

IDBP-44090

microphthalmia-associated transcription factor

IDBP-44092

microphthalmia-associated transcription factor

IDBP-44094

microphthalmia-associated transcription factor

IDBP-241749

microphthalmia-associated transcription factor

IDBP-809998

microphthalmia-associated transcription factor

IDBP-381197

microphthalmia-associated transcription factor

IDBP-381199

microphthalmia-associated transcription factor

IDBP-381208

microphthalmia-associated transcription factor

IDBP-381211

microphthalmia-associated transcription factor

IDBP-381217

microphthalmia-associated transcription factor

IDBP-476311

microphthalmia-associated transcription factor

IDBP-583404

microphthalmia-associated transcription factor

IDBP-589121

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

ENSMUSG00000035158

View Gene Order

ENSBTAG00000006679

Not yet available

Pathways

NETPATH

NetPath_6

KitReceptor pathway

NetPath_21

RANKL pathway

REACTOME

KEGG

hsa05218

Melanoma pathway

hsa04916

Melanogenesis pathway

hsa05200

Pathways in cancer pathway

hsa04380

Osteoclast differentiation pathway

INOH

PID NCI

rb_1pathway

Regulation of retinoblastoma protein

betacatenin_nuc_pathway

Regulation of nuclear beta catenin signaling and target gene transcription

kitpathway

Signaling events mediated by Stem cell factor receptor (c-Kit)

p38alphabetadownstreampathway

Signaling mediated by p38-alpha and p38-beta

il6_7pathway

IL6-mediated signaling events

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

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

OMIM

CCDS

CCDS2913 CCDS43106 CCDS43107 CCDS46865 CCDS46866 CCDS54607 CCDS74962

HPRD

01138

IMGT

EMBL

GenPept

RNA Seq Atlas