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MITF

GENERAL INFORMATION

Gene name

 MITF

Gene description

 Microphthalmia-associated transcription factor

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 13
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Group enriched (melanoma, renal cancer)
HPA (cell line):Cell line enhanced (HMC-1, SK-MEL-30)
HPA (normal tissue):Tissue enhanced (cervix, uterine, endometrium)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Nuclear expression mainly in melanocytes.

ANTIBODY IHC RELIABILITY

Data reliability
description

 External characterization data supports antibody staining.

Reliability score

 Supported based on 2 antibodies.
HPA003259 , CAB002578
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Group enriched (melanoma, renal cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Melanoma

STAINING SUMMARY
HPA003259
CAB002578

GENE INFORMATION

Gene name

 MITF (HGNC Symbol)

Synonyms

 bHLHe32, MI, WS2, WS2A

Description

 Microphthalmia-associated transcription factor (HGNC Symbol)

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]

Chromosome

 3

Cytoband

 p13

Chromosome location (bp)

 69739435 - 69968337

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000187098 (version 83.38)

Entrez gene

 4286

UniProt

 O75030 (UniProt - Evidence at protein level)

neXtProt

 NX_O75030

Antibodypedia

 MITF antibodies

PROTEIN BROWSER
«
MITF-001
MITF-002
MITF-003
MITF-004
MITF-005
MITF-006
MITF-007
MITF-009
MITF-012
MITF-014
MITF-015
MITF-016
MITF-201
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MITF-001
ENSP00000295600
ENST00000352241
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
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 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
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:0010628 [positive 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:0043234 [protein complex]
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]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 520 aa
58.2 kDa 		No 0
MITF-002
ENSP00000391276
ENST00000457080
Q8WYR3 [Direct mapping]
Microphthalmia-associated transcription factor; Microphthalmia-associated transcription factor isoform
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0030318 [melanocyte differentiation]
Show all
 117 aa
13.2 kDa 		No 0
MITF-003
ENSP00000398639
ENST00000451708
C9JBI8 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0030318 [melanocyte differentiation]
GO:0046983 [protein dimerization activity]
Show all
 361 aa
40.8 kDa 		No 0
MITF-004
ENSP00000377880
ENST00000394351
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 419 aa
46.9 kDa 		No 0
MITF-005
ENSP00000324246
ENST00000314557
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 413 aa
46.3 kDa 		No 0
MITF-006
ENSP00000481286
ENST00000394348
A0A087WXU1 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0030318 [melanocyte differentiation]
Show all
 91 aa
10.4 kDa 		No 0
MITF-007
ENSP00000391803
ENST00000448226
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 526 aa
58.8 kDa 		No 0
MITF-009
ENSP00000411389
ENST00000433517
C9J845 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0030318 [melanocyte differentiation]
Show all
 157 aa
18.1 kDa 		No 0
MITF-012
ENSP00000407620
ENST00000429090
C9K0S7 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0030318 [melanocyte differentiation]
Show all
 71 aa
8.3 kDa 		No 0
MITF-014
ENSP00000418845
ENST00000472437
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 468 aa
52.5 kDa 		No 0
MITF-015
ENSP00000324443
ENST00000314589
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 504 aa
56.4 kDa 		No 0
MITF-016
ENSP00000435909
ENST00000531774
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 357 aa
40.4 kDa 		No 0
MITF-201
ENSP00000327867
ENST00000328528
O75030 [Direct mapping]
Microphthalmia-associated transcription factor
Show all
Predicted intracellular proteins
Transcription factors
   Basic domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Amplifications
   COSMIC Somatic Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0010628 [positive regulation of gene expression]
GO:0030318 [melanocyte differentiation]
GO:0043234 [protein complex]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046983 [protein dimerization activity]
GO:2000144 [positive regulation of DNA-templated transcription, initiation]
GO:2001141 [regulation of RNA biosynthetic process]
Show all
 519 aa
58 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.