MITF - Gene info - The Human Protein Atlas

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MITF

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TISSUE

SUBCELL

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CELL LINE

CANCER

GENE INFORMATION

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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 78.38)
Entrez gene	4286
UniProt	O75030 (UniProt - Evidence at protein level)
neXtProt	NX_O75030
Antibodypedia	MITF antibodies

PROTEIN VIEW

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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

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
MITF-001	ENSP00000295600 ENST00000352241	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative 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:0005634 [nucleus] 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: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]	520	58.2	No	0
MITF-002	ENSP00000391276 ENST00000457080	Q8WYR3 Show all » « Hide Q8WYR3 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000391276}; Microphthalmia-associated transcription factor isoform {ECO:0000313\|EMBL:BAB83926.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		117	13.2	No	0
MITF-003	ENSP00000398639 ENST00000451708	C9JBI8 Show all » « Hide C9JBI8 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000398639} C9K0S7 [Target identity:19%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0046983 [protein dimerization activity]	361	40.8	No	0
MITF-004	ENSP00000377880 ENST00000394351	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	419	46.9	No	0
MITF-005	ENSP00000324246 ENST00000314557	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	413	46.3	No	0
MITF-006	ENSP00000481286 ENST00000394348		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		91	10.4	No	0
MITF-007	ENSP00000391803 ENST00000448226	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	526	58.8	No	0
MITF-009	ENSP00000411389 ENST00000433517	C9J845 Show all » « Hide C9J845 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000411389} C9K0S7 [Target identity:44%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		157	18.1	No	0
MITF-012	ENSP00000407620 ENST00000429090	C9K0S7 Show all » « Hide C9K0S7 [Target identity:98%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		71	8.3	No	0
MITF-014	ENSP00000418845 ENST00000472437	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:14%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	468	52.5	No	0
MITF-015	ENSP00000324443 ENST00000314589	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	504	56.4	No	0
MITF-016	ENSP00000435909 ENST00000531774	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	357	40.4	No	0
MITF-201	ENSP00000327867 ENST00000328528	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor Q8WYR3 [Target identity:22%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000391276}; Microphthalmia-associated transcription factor isoform {ECO:0000313\|EMBL:BAB83926.1} C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	519	58	No	0

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