Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O75030 (MITF_HUMAN)

Protein

Microphthalmia-associated transcription factor

Gene

MITF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 M-boxes (5'-TCATGTG-3') and 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.4 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
SignaLinkiO75030
SIGNORiO75030

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000187098.14
HGNCiHGNC:7105 MITF
MIMi156845 gene
neXtProtiNX_O75030

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 2A (WS2A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS2 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.
See also OMIM:193510
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078311294A → T in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010297310R → K in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010300357S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744Ensembl.1
Natural variantiVAR_010301385N → D in WS2A. 1 Publication1
Natural variantiVAR_010302405S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747Ensembl.1
Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:103470
Tietz albinism-deafness syndrome (TADS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.
See also OMIM:103500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010298317N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745Ensembl.1
Melanoma, cutaneous malignant 8 (CMM8)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614456
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067367425E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956Ensembl.1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome.1 Publication
Disease descriptionAn autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.
See also OMIM:617306
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077922313K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325Ensembl.1
Natural variantiVAR_077923324R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.1
Variations affecting this gene are associated with susceptibility to pheochromocytomas and paragangliomas, rare neural crest-derived tumors with an approximate incidence of 1:300,000/year.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi180S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication1
Mutagenesisi289K → R: Loss of sumoylation; when associated with R-423. 1 Publication1
Mutagenesisi405S → A or P: Loss of phosphorylation and function. 1 Publication1
Mutagenesisi423K → R: Loss of sumoylation; when associated with R-289. 1 Publication1
Mutagenesisi516S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication1

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Microphthalmia, Osteopetrosis, Waardenburg syndrome

Organism-specific databases

DisGeNETi4286
MalaCardsiMITF
MIMi103470 phenotype
103500 phenotype
193510 phenotype
614456 phenotype
617306 phenotype
OpenTargetsiENSG00000187098
Orphaneti404511 Clear cell papillary renal cell carcinoma
618 Familial melanoma
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

Chemistry databases

ChEMBLiCHEMBL1741165

Polymorphism and mutation databases

BioMutaiMITF

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272761 – 526Microphthalmia-associated transcription factorAdd BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180Phosphoserine; by MAPK1 Publication1
Cross-linki289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei405Phosphoserine; by GSK31 Publication1
Modified residuei414PhosphoserineCombined sources1
Cross-linki423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei491PhosphoserineCombined sources1
Modified residuei516Phosphoserine; by RPS6KA11 Publication1

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
PeptideAtlasiO75030
PRIDEiO75030
ProteomicsDBi49704
49705 [O75030-10]
49706 [O75030-2]
49707 [O75030-3]
49708 [O75030-4]
49709 [O75030-5]
49710 [O75030-6]
49711 [O75030-7]
49712 [O75030-8]
49713 [O75030-9]

PTM databases

iPTMnetiO75030
PhosphoSitePlusiO75030

Miscellaneous databases

PMAP-CutDBiO75030

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.2 Publications

Gene expression databases

BgeeiENSG00000187098 Expressed in 237 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_MITF
ExpressionAtlasiO75030 baseline and differential
GenevisibleiO75030 HS

Organism-specific databases

HPAiCAB002578
HPA003259

Interactioni

Subunit structurei

Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). 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 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378).3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110432, 28 interactors
DIPiDIP-59573N
IntActiO75030, 7 interactors
MINTiO75030
STRINGi9606.ENSP00000295600

Structurei

Secondary structure

1526
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75030
SMRiO75030
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini311 – 364bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni224 – 295TransactivationAdd BLAST72
Regioni374 – 395Leucine-zipper1 PublicationAdd BLAST22
Regioni401 – 431DNA binding regulationAdd BLAST31

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili355 – 4021 PublicationAdd BLAST48

Domaini

The leucine zipper region is part of a larger coiled coil.1 Publication

Sequence similaritiesi

Belongs to the MiT/TFE family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1318 Eukaryota
ENOG4110SME LUCA
GeneTreeiENSGT00390000004402
HOGENOMiHOG000231368
HOVERGENiHBG006768
InParanoidiO75030
KOiK09455
OMAiMEDTDHA
OrthoDBiEOG091G0QCO
PhylomeDBiO75030
TreeFamiTF317174

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR024097 bHLH_ZIP_TF
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR030532 MITF
PANTHERiPTHR12565 PTHR12565, 2 hits
PTHR12565:SF91 PTHR12565:SF91, 2 hits
PfamiView protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
PF15951 MITF_TFEB_C_3_N, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (12+)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. AlignAdd to basket
Note: The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.

This entry has 12 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JBI8C9JBI8_HUMAN
Microphthalmia-associated transcrip...
MITF
361Annotation score:
Q8WYR3Q8WYR3_HUMAN
Microphthalmia-associated transcrip...
MITF MITF-C
117Annotation score:
C9J845C9J845_HUMAN
Microphthalmia-associated transcrip...
MITF
157Annotation score:
C9K0S7C9K0S7_HUMAN
Microphthalmia-associated transcrip...
MITF
70Annotation score:
A0A087WXU1A0A087WXU1_HUMAN
Microphthalmia-associated transcrip...
MITF
91Annotation score:
E9PKJ8E9PKJ8_HUMAN
Microphthalmia-associated transcrip...
MITF
105Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti241I → T in BAG58874 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078311294A → T in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010297310R → K in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_077922313K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325Ensembl.1
Natural variantiVAR_010298317N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745Ensembl.1
Natural variantiVAR_077923324R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.1
Natural variantiVAR_010299324Missing in WS2A and COMMAD; does not localize to the nucleus; does not bind M-box or E-box DNA sequences; loss of function in transcriptional regulation; dominant negative effect. 2 Publications1
Natural variantiVAR_010300357S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744Ensembl.1
Natural variantiVAR_010301385N → D in WS2A. 1 Publication1
Natural variantiVAR_010302405S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747Ensembl.1
Natural variantiVAR_067367425E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0021271 – 118MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsAdd BLAST118
Alternative sequenceiVSP_0464381 – 52Missing in isoform 12. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_0021261 – 35MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedAdd BLAST35
Alternative sequenceiVSP_0021241 – 34MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedAdd BLAST34
Alternative sequenceiVSP_0021251 – 34MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedAdd BLAST34
Alternative sequenceiVSP_045178139 – 194Missing in isoform Mdel. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_045179293 – 298Missing in isoform Mdel and isoform 12. 2 Publications6
Alternative sequenceiVSP_002128294 – 299Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 Publications6

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]
CCDS87108.1 [O75030-1]
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
XP_005264812.1, XM_005264755.3
XP_016861933.1, XM_017006444.1
XP_016861937.1, XM_017006448.1
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]
ENST00000642352; ENSP00000494105; ENSG00000187098 [O75030-2]
GeneIDi4286
KEGGihsa:4286
UCSCiuc003dnz.4 human [O75030-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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.
CCDSiCCDS2913.1 [O75030-9]
CCDS43106.1 [O75030-2]
CCDS43107.1 [O75030-10]
CCDS46865.1 [O75030-8]
CCDS46866.2 [O75030-11]
CCDS54607.1 [O75030-12]
CCDS87108.1 [O75030-1]
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
XP_005264812.1, XM_005264755.3
XP_016861933.1, XM_017006444.1
XP_016861937.1, XM_017006448.1
UniGeneiHs.166017
Hs.618266

3D structure databases

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

Protein-protein interaction databases

BioGridi110432, 28 interactors
DIPiDIP-59573N
IntActiO75030, 7 interactors
MINTiO75030
STRINGi9606.ENSP00000295600

Chemistry databases

ChEMBLiCHEMBL1741165

PTM databases

iPTMnetiO75030
PhosphoSitePlusiO75030

Polymorphism and mutation databases

BioMutaiMITF

Proteomic databases

MaxQBiO75030
PaxDbiO75030
PeptideAtlasiO75030
PRIDEiO75030
ProteomicsDBi49704
49705 [O75030-10]
49706 [O75030-2]
49707 [O75030-3]
49708 [O75030-4]
49709 [O75030-5]
49710 [O75030-6]
49711 [O75030-7]
49712 [O75030-8]
49713 [O75030-9]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]
ENST00000642352; ENSP00000494105; ENSG00000187098 [O75030-2]
GeneIDi4286
KEGGihsa:4286
UCSCiuc003dnz.4 human [O75030-1]

Organism-specific databases

CTDi4286
DisGeNETi4286
EuPathDBiHostDB:ENSG00000187098.14
GeneCardsiMITF
HGNCiHGNC:7105 MITF
HPAiCAB002578
HPA003259
MalaCardsiMITF
MIMi103470 phenotype
103500 phenotype
156845 gene
193510 phenotype
614456 phenotype
617306 phenotype
neXtProtiNX_O75030
OpenTargetsiENSG00000187098
Orphaneti404511 Clear cell papillary renal cell carcinoma
618 Familial melanoma
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1318 Eukaryota
ENOG4110SME LUCA
GeneTreeiENSGT00390000004402
HOGENOMiHOG000231368
HOVERGENiHBG006768
InParanoidiO75030
KOiK09455
OMAiMEDTDHA
OrthoDBiEOG091G0QCO
PhylomeDBiO75030
TreeFamiTF317174

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
SignaLinkiO75030
SIGNORiO75030

Miscellaneous databases

GeneWikiiMicrophthalmia-associated_transcription_factor
GenomeRNAii4286
PMAP-CutDBiO75030
PROiPR:O75030
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187098 Expressed in 237 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_MITF
ExpressionAtlasiO75030 baseline and differential
GenevisibleiO75030 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR024097 bHLH_ZIP_TF
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR030532 MITF
PANTHERiPTHR12565 PTHR12565, 2 hits
PTHR12565:SF91 PTHR12565:SF91, 2 hits
PfamiView protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
PF15951 MITF_TFEB_C_3_N, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMITF_HUMAN
AccessioniPrimary (citable) accession number: O75030
Secondary accession number(s): B4DJL2
, D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 194 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again