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O75030

- MITF_HUMAN

UniProt

O75030 - MITF_HUMAN

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Protein

Microphthalmia-associated transcription factor

Gene

MITF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
  4. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
  5. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  6. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL

GO - Biological processi

  1. bone remodeling Source: Ensembl
  2. camera-type eye development Source: Ensembl
  3. canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: Ensembl
  4. cell fate commitment Source: Ensembl
  5. melanocyte differentiation Source: UniProtKB
  6. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  7. osteoclast differentiation Source: Ensembl
  8. positive regulation of transcription, DNA-templated Source: UniProtKB
  9. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  10. protein complex assembly Source: UniProtKB
  11. regulation of cell proliferation Source: Ensembl
  12. regulation of osteoclast differentiation Source: Ensembl
  13. regulation of transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiO75030.

Names & Taxonomyi

Protein namesi
Recommended name:
Microphthalmia-associated transcription factor
Alternative name(s):
Class E basic helix-loop-helix protein 32
Short name:
bHLHe32
Gene namesi
Name:MITF
Synonyms:BHLHE32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:7105. MITF.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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 WS1.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti310 – 3101R → K in WS2A; unknown pathological significance. 1 Publication
VAR_010297
Natural varianti324 – 3241Missing in WS2A. 1 Publication
VAR_010299
Natural varianti357 – 3571S → P in WS2A. 1 Publication
VAR_010300
Natural varianti385 – 3851N → D in WS2A. 1 Publication
VAR_010301
Natural varianti405 – 4051S → P in WS2A. 1 Publication
VAR_010302
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti317 – 3171N → K in TIETZS. 1 Publication
VAR_010298
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.2 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti425 – 4251E → K May be associated with susceptibility to CMM8; has increased frequency in individuals with melanoma or renal cell carcinoma compared to controls; affects sumoylation. 2 Publications
Corresponds to variant rs149617956 [ dbSNP | Ensembl ].
VAR_067367

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi180 – 1801S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication
Mutagenesisi289 – 2891K → R: Loss of sumoylation; when associated with R-423. 1 Publication
Mutagenesisi405 – 4051S → A or P: Loss of phosphorylation and function. 1 Publication
Mutagenesisi423 – 4231K → R: Loss of sumoylation; when associated with R-289. 1 Publication
Mutagenesisi516 – 5161S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Waardenburg syndrome

Organism-specific databases

MIMi103470. phenotype.
103500. phenotype.
193510. phenotype.
614456. phenotype.
Orphaneti319276. Clear cell renal carcinoma.
293822. MITF-related melanoma and renal cell carcinoma predisposition syndrome.
352740. Ocular albinism with congenital sensorineural deafness.
319298. Papillary renal cell carcinoma.
42665. Tietz syndrome.
895. Waardenburg syndrome type 2.
PharmGKBiPA30823.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 526526Microphthalmia-associated transcription factorPRO_0000127276Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei180 – 1801Phosphoserine; by MAPK1 Publication
Cross-linki289 – 289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residuei405 – 4051Phosphoserine; by GSK31 Publication
Modified residuei414 – 4141Phosphoserine2 Publications
Cross-linki423 – 423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residuei491 – 4911Phosphoserine1 Publication
Modified residuei516 – 5161Phosphoserine; by RPS6KA11 Publication

Post-translational modificationi

Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome.2 Publications
Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiO75030.
PaxDbiO75030.
PRIDEiO75030.

PTM databases

PhosphoSiteiO75030.

Miscellaneous databases

PMAP-CutDBO75030.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiO75030.
CleanExiHS_MITF.
ExpressionAtlasiO75030. baseline and differential.
GenevestigatoriO75030.

Organism-specific databases

HPAiCAB002578.
HPA003259.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC. Interacts with KARS. Identified in a complex with HINT1 and CTNNB1.2 Publications

Protein-protein interaction databases

BioGridi110432. 23 interactions.
DIPiDIP-59573N.
IntActiO75030. 4 interactions.
MINTiMINT-7997258.
STRINGi9606.ENSP00000295600.

Structurei

Secondary structure

1
526
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi357 – 40145Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4C7NX-ray2.10A357-403[»]
ProteinModelPortaliO75030.
SMRiO75030. Positions 312-402.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini311 – 36454bHLHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni224 – 29572TransactivationAdd
BLAST
Regioni374 – 39522Leucine-zipperAdd
BLAST
Regioni401 – 43131DNA binding regulationAdd
BLAST

Sequence similaritiesi

Belongs to the MiT/TFE family.Curated
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG251286.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiO75030.
KOiK09455.
OMAiYSNQGLP.
OrthoDBiEOG72G182.
PhylomeDBiO75030.
TreeFamiTF317174.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
[Graphical view]
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (12)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. Align

Note: The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.

Isoform A1 (identifier: O75030-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS
60 70 80 90 100
SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV
110 120 130 140 150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRQQVK QYLSTTLANK
160 170 180 190 200
HANQVLSLPC PNQPGDHVMP PVPGSSAPNS PMAMLTLNSN CEKEGFYKFE
210 220 230 240 250
EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ
260 270 280 290 300
MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE
310 320 330 340 350
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK
360 370 380 390 400
GTILKASVDY IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR
410 420 430 440 450
AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL
460 470 480 490 500
TDGTITFNNN LGTGTEANQA YSVPTKMGSK LEDILMDDTL SPVGVTDPLL
510 520
SSVSPGASKT SSRRSSMSME ETEHTC
Length:526
Mass (Da):58,795
Last modified:February 21, 2001 - v2
Checksum:i136EBED3044C1986
GO
Isoform A2 (identifier: O75030-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-299: Missing.

Show »
Length:520
Mass (Da):58,163
Checksum:iDEE08CB1E59B9511
GO
Isoform B1 (identifier: O75030-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH

Show »
Length:501
Mass (Da):56,038
Checksum:i57BB6D9C60C50A76
GO
Isoform B2 (identifier: O75030-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
     294-299: Missing.

Show »
Length:495
Mass (Da):55,405
Checksum:i8D10FAE2E7A855FD
GO
Isoform C1 (identifier: O75030-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR

Show »
Length:525
Mass (Da):58,664
Checksum:iE9976026708CA76E
GO
Isoform C2 (identifier: O75030-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
     294-299: Missing.

Show »
Length:519
Mass (Da):58,031
Checksum:i90083765F3F0AA7C
GO
Isoform H1 (identifier: O75030-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL

Show »
Length:510
Mass (Da):57,045
Checksum:i19568959E6CBC288
GO
Isoform H2 (identifier: O75030-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
     294-299: Missing.

Show »
Length:504
Mass (Da):56,412
Checksum:iB5EE812DB5750430
GO
Isoform M1 (identifier: O75030-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ

Show »
Length:419
Mass (Da):46,938
Checksum:i81B2DAF59F3C26D8
GO
Isoform M2 (identifier: O75030-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
     294-299: Missing.

Show »
Length:413
Mass (Da):46,305
Checksum:iD1BE704770F24258
GO
Isoform Mdel (identifier: O75030-11) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
     139-194: Missing.
     293-298: Missing.

Show »
Length:357
Mass (Da):40,365
Checksum:iC4072E16DBABBD76
GO
Isoform 12 (identifier: O75030-12) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     293-298: Missing.

Note: No experimental confirmation available.

Show »
Length:468
Mass (Da):52,527
Checksum:i3608D0683C05C79D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti241 – 2411I → T in BAG58874. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti310 – 3101R → K in WS2A; unknown pathological significance. 1 Publication
VAR_010297
Natural varianti317 – 3171N → K in TIETZS. 1 Publication
VAR_010298
Natural varianti324 – 3241Missing in WS2A. 1 Publication
VAR_010299
Natural varianti357 – 3571S → P in WS2A. 1 Publication
VAR_010300
Natural varianti385 – 3851N → D in WS2A. 1 Publication
VAR_010301
Natural varianti405 – 4051S → P in WS2A. 1 Publication
VAR_010302
Natural varianti425 – 4251E → K May be associated with susceptibility to CMM8; has increased frequency in individuals with melanoma or renal cell carcinoma compared to controls; affects sumoylation. 2 Publications
Corresponds to variant rs149617956 [ dbSNP | Ensembl ].
VAR_067367

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 118118MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsVSP_002127Add
BLAST
Alternative sequencei1 – 5252Missing in isoform 12. 1 PublicationVSP_046438Add
BLAST
Alternative sequencei1 – 3535MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedVSP_002126Add
BLAST
Alternative sequencei1 – 3434MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedVSP_002124Add
BLAST
Alternative sequencei1 – 3434MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedVSP_002125Add
BLAST
Alternative sequencei139 – 19456Missing in isoform Mdel. 1 PublicationVSP_045178Add
BLAST
Alternative sequencei293 – 2986Missing in isoform Mdel and isoform 12. 2 PublicationsVSP_045179
Alternative sequencei294 – 2996Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 PublicationsVSP_002128

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006909 mRNA. Translation: BAA32288.1.
AB006989 mRNA. No translation available.
Z29678 mRNA. Translation: CAA82775.1.
GU355676 mRNA. Translation: ADB90411.1.
AL110195 mRNA. Translation: CAB53672.1.
AK296129 mRNA. Translation: BAG58874.1.
AC099326 Genomic DNA. No translation available.
AC104445 Genomic DNA. No translation available.
AC104449 Genomic DNA. No translation available.
AC124915 Genomic DNA. No translation available.
BC026961 mRNA. Translation: AAH26961.1.
BC065243 mRNA. Translation: AAH65243.1.
AF034755 Genomic DNA. Translation: AAC39639.1.
AB032359 Genomic DNA. Translation: BAA95208.1.
AB032358 Genomic DNA. Translation: BAA95207.1.
AB032357 Genomic DNA. Translation: BAA95206.1.
AB009608 Genomic DNA. Translation: BAA95209.1. Different termination.
CCDSiCCDS2913.1. [O75030-9]
CCDS43106.1. [O75030-2]
CCDS43107.1. [O75030-10]
CCDS46865.1. [O75030-8]
CCDS46866.2. [O75030-11]
CCDS54607.1. [O75030-12]
PIRiI38024.
T14752.
RefSeqiNP_000239.1. NM_000248.3. [O75030-9]
NP_001171896.1. NM_001184967.1. [O75030-12]
NP_006713.1. NM_006722.2. [O75030-6]
NP_937801.1. NM_198158.2. [O75030-10]
NP_937802.1. NM_198159.2. [O75030-2]
NP_937820.1. NM_198177.2. [O75030-8]
NP_937821.2. NM_198178.2. [O75030-11]
XP_005264811.1. XM_005264754.1. [O75030-1]
XP_005264812.1. XM_005264755.1. [O75030-7]
UniGeneiHs.166017.
Hs.618266.

Genome annotation databases

EnsembliENST00000314557; ENSP00000324246; ENSG00000187098. [O75030-10]
ENST00000314589; ENSP00000324443; ENSG00000187098. [O75030-8]
ENST00000328528; ENSP00000327867; ENSG00000187098. [O75030-6]
ENST00000352241; ENSP00000295600; ENSG00000187098. [O75030-2]
ENST00000394351; ENSP00000377880; ENSG00000187098. [O75030-9]
ENST00000448226; ENSP00000391803; ENSG00000187098. [O75030-1]
ENST00000472437; ENSP00000418845; ENSG00000187098. [O75030-12]
ENST00000531774; ENSP00000435909; ENSG00000187098. [O75030-11]
GeneIDi4286.
KEGGihsa:4286.
UCSCiuc003dnz.3. human. [O75030-2]
uc003doa.3. human. [O75030-6]
uc003dob.3. human. [O75030-8]
uc003doe.3. human. [O75030-10]
uc003dof.3. human. [O75030-9]
uc021xam.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006909 mRNA. Translation: BAA32288.1 .
AB006989 mRNA. No translation available.
Z29678 mRNA. Translation: CAA82775.1 .
GU355676 mRNA. Translation: ADB90411.1 .
AL110195 mRNA. Translation: CAB53672.1 .
AK296129 mRNA. Translation: BAG58874.1 .
AC099326 Genomic DNA. No translation available.
AC104445 Genomic DNA. No translation available.
AC104449 Genomic DNA. No translation available.
AC124915 Genomic DNA. No translation available.
BC026961 mRNA. Translation: AAH26961.1 .
BC065243 mRNA. Translation: AAH65243.1 .
AF034755 Genomic DNA. Translation: AAC39639.1 .
AB032359 Genomic DNA. Translation: BAA95208.1 .
AB032358 Genomic DNA. Translation: BAA95207.1 .
AB032357 Genomic DNA. Translation: BAA95206.1 .
AB009608 Genomic DNA. Translation: BAA95209.1 . Different termination.
CCDSi CCDS2913.1. [O75030-9 ]
CCDS43106.1. [O75030-2 ]
CCDS43107.1. [O75030-10 ]
CCDS46865.1. [O75030-8 ]
CCDS46866.2. [O75030-11 ]
CCDS54607.1. [O75030-12 ]
PIRi I38024.
T14752.
RefSeqi NP_000239.1. NM_000248.3. [O75030-9 ]
NP_001171896.1. NM_001184967.1. [O75030-12 ]
NP_006713.1. NM_006722.2. [O75030-6 ]
NP_937801.1. NM_198158.2. [O75030-10 ]
NP_937802.1. NM_198159.2. [O75030-2 ]
NP_937820.1. NM_198177.2. [O75030-8 ]
NP_937821.2. NM_198178.2. [O75030-11 ]
XP_005264811.1. XM_005264754.1. [O75030-1 ]
XP_005264812.1. XM_005264755.1. [O75030-7 ]
UniGenei Hs.166017.
Hs.618266.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4C7N X-ray 2.10 A 357-403 [» ]
ProteinModelPortali O75030.
SMRi O75030. Positions 312-402.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110432. 23 interactions.
DIPi DIP-59573N.
IntActi O75030. 4 interactions.
MINTi MINT-7997258.
STRINGi 9606.ENSP00000295600.

Chemistry

ChEMBLi CHEMBL1741165.

PTM databases

PhosphoSitei O75030.

Proteomic databases

MaxQBi O75030.
PaxDbi O75030.
PRIDEi O75030.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314557 ; ENSP00000324246 ; ENSG00000187098 . [O75030-10 ]
ENST00000314589 ; ENSP00000324443 ; ENSG00000187098 . [O75030-8 ]
ENST00000328528 ; ENSP00000327867 ; ENSG00000187098 . [O75030-6 ]
ENST00000352241 ; ENSP00000295600 ; ENSG00000187098 . [O75030-2 ]
ENST00000394351 ; ENSP00000377880 ; ENSG00000187098 . [O75030-9 ]
ENST00000448226 ; ENSP00000391803 ; ENSG00000187098 . [O75030-1 ]
ENST00000472437 ; ENSP00000418845 ; ENSG00000187098 . [O75030-12 ]
ENST00000531774 ; ENSP00000435909 ; ENSG00000187098 . [O75030-11 ]
GeneIDi 4286.
KEGGi hsa:4286.
UCSCi uc003dnz.3. human. [O75030-2 ]
uc003doa.3. human. [O75030-6 ]
uc003dob.3. human. [O75030-8 ]
uc003doe.3. human. [O75030-10 ]
uc003dof.3. human. [O75030-9 ]
uc021xam.1. human.

Organism-specific databases

CTDi 4286.
GeneCardsi GC03P069788.
HGNCi HGNC:7105. MITF.
HPAi CAB002578.
HPA003259.
MIMi 103470. phenotype.
103500. phenotype.
156845. gene.
193510. phenotype.
614456. phenotype.
neXtProti NX_O75030.
Orphaneti 319276. Clear cell renal carcinoma.
293822. MITF-related melanoma and renal cell carcinoma predisposition syndrome.
352740. Ocular albinism with congenital sensorineural deafness.
319298. Papillary renal cell carcinoma.
42665. Tietz syndrome.
895. Waardenburg syndrome type 2.
PharmGKBi PA30823.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251286.
GeneTreei ENSGT00390000004402.
HOGENOMi HOG000231368.
HOVERGENi HBG006768.
InParanoidi O75030.
KOi K09455.
OMAi YSNQGLP.
OrthoDBi EOG72G182.
PhylomeDBi O75030.
TreeFami TF317174.

Enzyme and pathway databases

SignaLinki O75030.

Miscellaneous databases

GeneWikii Microphthalmia-associated_transcription_factor.
GenomeRNAii 4286.
NextBioi 16861.
PMAP-CutDB O75030.
PROi O75030.
SOURCEi Search...

Gene expression databases

Bgeei O75030.
CleanExi HS_MITF.
ExpressionAtlasi O75030. baseline and differential.
Genevestigatori O75030.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
[Graphical view ]
Pfami PF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium."
    Amae S., Fuse N., Yasumoto K., Sato S., Yajima I., Yamamoto H., Udono T., Durlu Y.K., Tamai M., Takahashi K., Shibahara S.
    Biochem. Biophys. Res. Commun. 247:710-715(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A2), NUCLEOTIDE SEQUENCE [MRNA] OF 1-35 (ISOFORMS H1/H2).
    Tissue: Kidney.
  2. "Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3."
    Tachibana M., Perez-Jurado L.A., Nakayama A., Hodgkinson C.A., Li X., Schneider M., Miki T., Fex J., Francke U., Arnheiter H.
    Hum. Mol. Genet. 3:553-557(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M1).
    Tissue: Skin.
  3. "Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma."
    Wang Y., Radfar S., Liu S., Riker A.I., Khong H.T.
    BMC Med. 8:14-14(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM MDEL), TISSUE SPECIFICITY.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A2).
    Tissue: Uterus.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 12).
    Tissue: Thalamus.
  6. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS M1 AND M2).
    Tissue: Skin.
  8. "Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters."
    Udono T., Yasumoto K., Takeda K., Amae S., Watanabe K., Saito H., Fuse N., Tachibana M., Takahashi K., Tamai M., Shibahara S.
    Biochim. Biophys. Acta 1491:205-219(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1/A2; B1/B2; H1/H2 AND M1/M2).
  9. "Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus."
    Fuse N., Yasumoto K., Takeda K., Amae S., Yoshizawa M., Udono T., Takahashi K., Tamai M., Tomita Y., Tachibana M., Shibahara S.
    J. Biochem. 126:1043-1051(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM C1/C2).
    Tissue: Kidney.
  10. "c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi."
    Wu M., Hemesath T.J., Takemoto C.M., Horstmann M.A., Wells A.G., Price E.R., Fisher D.Z., Fisher D.E.
    Genes Dev. 14:301-312(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-180 AND SER-516, UBIQUITINATION, MUTAGENESIS OF SER-180 AND SER-516.
  11. "Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance."
    Takeda K., Takemoto C., Kobayashi I., Watanabe A., Nobukuni Y., Fisher D.E., Tachibana M.
    Hum. Mol. Genet. 9:125-132(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF SER-405, PHOSPHORYLATION AT SER-405.
  12. "The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells."
    Lee Y.N., Nechushtan H., Figov N., Razin E.
    Immunity 20:145-151(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KARS.
  13. "Sumoylation of MITF and its related family members TFE3 and TFEB."
    Miller A.J., Levy C., Davis I.J., Razin E., Fisher D.E.
    J. Biol. Chem. 280:146-155(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION AT LYS-289 AND LYS-423, MUTAGENESIS OF LYS-289 AND LYS-423.
  14. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  15. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma."
    Bertolotto C., Lesueur F., Giuliano S., Strub T., de Lichy M., Bille K., Dessen P., d'Hayer B., Mohamdi H., Remenieras A., Maubec E., de la Fouchardiere A., Molinie V., Vabres P., Dalle S., Poulalhon N., Martin-Denavit T., Thomas L.
    , Andry-Benzaquen P., Dupin N., Boitier F., Rossi A., Perrot J.L., Labeille B., Robert C., Escudier B., Caron O., Brugieres L., Saule S., Gardie B., Gad S., Richard S., Couturier J., Teh B.T., Ghiorzo P., Pastorino L., Puig S., Badenas C., Olsson H., Ingvar C., Rouleau E., Lidereau R., Bahadoran P., Vielh P., Corda E., Blanche H., Zelenika D., Galan P., Aubin F., Bachollet B., Becuwe C., Berthet P., Bignon Y.J., Bonadona V., Bonafe J.L., Bonnet-Dupeyron M.N., Cambazard F., Chevrant-Breton J., Coupier I., Dalac S., Demange L., d'Incan M., Dugast C., Faivre L., Vincent-Fetita L., Gauthier-Villars M., Gilbert B., Grange F., Grob J.J., Humbert P., Janin N., Joly P., Kerob D., Lasset C., Leroux D., Levang J., Limacher J.M., Livideanu C., Longy M., Lortholary A., Stoppa-Lyonnet D., Mansard S., Mansuy L., Marrou K., Mateus C., Maugard C., Meyer N., Nogues C., Souteyrand P., Venat-Bouvet L., Zattara H., Chaudru V., Lenoir G.M., Lathrop M., Davidson I., Avril M.F., Demenais F., Ballotti R., Bressac-de Paillerets B.
    Nature 480:94-98(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMM8, VARIANT LYS-425.
  18. Cited for: INVOLVEMENT IN CMM8, VARIANT LYS-425, CHARACTERIZATION OF VARIANT LYS-425.
  19. "The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells."
    Genovese G., Ghosh P., Li H., Rettino A., Sioletic S., Cittadini A., Sgambato A.
    Cell Cycle 11:2206-2215(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH HINT1 AND CTNNB1, FUNCTION.
  20. Cited for: VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405.
  21. "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF."
    Smith S.D., Kelley P.M., Kenyon J.B., Hoover D.
    J. Med. Genet. 37:446-448(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TIETZS LYS-317.
    Tissue: Blood.

Entry informationi

Entry nameiMITF_HUMAN
AccessioniPrimary (citable) accession number: O75030
Secondary accession number(s): B4DJL2
, D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: November 26, 2014
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3