UniProtKB - O75030 (MITF_HUMAN)
Microphthalmia-associated transcription factor
MITF
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 PublicationsGO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: BHF-UCL
- E-box binding Source: UniProtKB
- protein dimerization activity Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- bone remodeling Source: Ensembl
- camera-type eye development Source: Ensembl
- canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: Ensembl
- cell fate commitment Source: Ensembl
- melanocyte differentiation Source: GO_Central
- negative regulation of cell migration Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- osteoclast differentiation Source: Ensembl
- positive regulation of DNA-templated transcription, initiation Source: CACAO
- positive regulation of gene expression Source: CACAO
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- regulation of cell population proliferation Source: Ensembl
- regulation of osteoclast differentiation Source: Ensembl
- regulation of RNA biosynthetic process Source: CACAO
- regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O75030 |
Reactomei | R-HSA-3232118, SUMOylation of transcription factors |
SignaLinki | O75030 |
SIGNORi | O75030 |
Names & Taxonomyi
Protein namesi | Recommended name: Microphthalmia-associated transcription factorAlternative name(s): Class E basic helix-loop-helix protein 32 Short name: bHLHe32 |
Gene namesi | Name:MITF Synonyms:BHLHE32 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7105, MITF |
MIMi | 156845, gene |
neXtProti | NX_O75030 |
VEuPathDBi | HostDB:ENSG00000187098 |
Subcellular locationi
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- chromatin Source: NTNU_SB
- cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Waardenburg syndrome 2A (WS2A)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078311 | 294 | A → T in WS2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1559742541Ensembl. | 1 | |
Natural variantiVAR_010297 | 310 | R → K in WS2A; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_010299 | 324 | Missing 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 PublicationsCorresponds to variant dbSNP:rs1553704814Ensembl. | 1 | |
Natural variantiVAR_010300 | 357 | S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744EnsemblClinVar. | 1 | |
Natural variantiVAR_010301 | 385 | N → D in WS2A. 1 Publication | 1 | |
Natural variantiVAR_010302 | 405 | S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747EnsemblClinVar. | 1 |
Tietz albinism-deafness syndrome (TADS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010298 | 317 | N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745EnsemblClinVar. | 1 |
Melanoma, cutaneous malignant 8 (CMM8)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067367 | 425 | E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956EnsemblClinVar. | 1 |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077922 | 313 | K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325EnsemblClinVar. | 1 | |
Natural variantiVAR_077923 | 324 | R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326EnsemblClinVar. | 1 | |
Natural variantiVAR_010299 | 324 | Missing 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 PublicationsCorresponds to variant dbSNP:rs1553704814Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 180 | S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication | 1 | |
Mutagenesisi | 289 | K → R: Loss of sumoylation; when associated with R-423. 1 Publication | 1 | |
Mutagenesisi | 405 | S → A or P: Loss of phosphorylation and function. 1 Publication | 1 | |
Mutagenesisi | 423 | K → R: Loss of sumoylation; when associated with R-289. 1 Publication | 1 | |
Mutagenesisi | 516 | S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication | 1 |
Keywords - Diseasei
Albinism, Deafness, Disease variant, Microphthalmia, Osteopetrosis, Waardenburg syndromeOrganism-specific databases
DisGeNETi | 4286 |
MalaCardsi | MITF |
MIMi | 103500, phenotype 193510, phenotype 614456, phenotype 617306, phenotype |
OpenTargetsi | ENSG00000187098 |
Orphaneti | 404511, Clear cell papillary renal cell carcinoma 618, Familial melanoma 293822, MITF-related melanoma and renal cell carcinoma predisposition syndrome 319298, Papillary renal cell carcinoma 42665, Tietz syndrome 895, Waardenburg syndrome type 2 897, Waardenburg-Shah syndrome |
PharmGKBi | PA30823 |
Miscellaneous databases
Pharosi | O75030, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1741165 |
Genetic variation databases
BioMutai | MITF |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127276 | 1 – 526 | Microphthalmia-associated transcription factorAdd BLAST | 526 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 180 | Phosphoserine; by MAPK1 Publication | 1 | |
Cross-linki | 289 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 405 | Phosphoserine; by GSK31 Publication | 1 | |
Modified residuei | 414 | PhosphoserineCombined sources | 1 | |
Cross-linki | 423 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 491 | PhosphoserineCombined sources | 1 | |
Modified residuei | 516 | Phosphoserine; by RPS6KA11 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | O75030 |
MassIVEi | O75030 |
MaxQBi | O75030 |
PaxDbi | O75030 |
PeptideAtlasi | O75030 |
PRIDEi | O75030 |
ProteomicsDBi | 12779 20138 49704 [O75030-1] 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
iPTMneti | O75030 |
PhosphoSitePlusi | O75030 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000187098, Expressed in pigmented layer of retina and 249 other tissues |
ExpressionAtlasi | O75030, baseline and differential |
Genevisiblei | O75030, HS |
Organism-specific databases
HPAi | ENSG00000187098, Low tissue specificity |
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 (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434).
Interacts with KARS1 (PubMed:14975237).
Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378).
Interacts with VSX2 (By similarity).
By similarity4 PublicationsGO - Molecular functioni
- protein dimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 110432, 37 interactors |
DIPi | DIP-59573N |
IntActi | O75030, 15 interactors |
MINTi | O75030 |
STRINGi | 9606.ENSP00000295600 |
Miscellaneous databases
RNActi | O75030, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O75030 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 311 – 364 | bHLHPROSITE-ProRule annotationAdd BLAST | 54 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 54 | DisorderedSequence analysisAdd BLAST | 54 | |
Regioni | 224 – 295 | TransactivationAdd BLAST | 72 | |
Regioni | 374 – 395 | Leucine-zipper1 PublicationAdd BLAST | 22 | |
Regioni | 401 – 431 | DNA binding regulationAdd BLAST | 31 | |
Regioni | 496 – 526 | DisorderedSequence analysisAdd BLAST | 31 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 355 – 402 | 1 PublicationAdd BLAST | 48 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 11 – 26 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 28 – 54 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 496 – 515 | Polar residuesSequence analysisAdd BLAST | 20 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000156326 |
HOGENOMi | CLU_031638_2_0_1 |
InParanoidi | O75030 |
OMAi | MANTXCI |
OrthoDBi | 1211990at2759 |
PhylomeDBi | O75030 |
TreeFami | TF317174 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR031867, MiT/TFE_N IPR030532, MITF |
PANTHERi | PTHR45776:SF4, PTHR45776:SF4, 1 hit |
Pfami | View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit PF15951, MITF_TFEB_C_3_N, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
s (12+)i Sequence
Sequence statusi: Complete.
This entry describes 12 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 12 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
294-299: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
294-299: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
294-299: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
294-299: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
294-299: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
139-194: Missing.
293-298: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-52: Missing.
293-298: Missing.
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JBI8 | C9JBI8_HUMAN | Microphthalmia-associated transcrip... | MITF | 361 | Annotation score: | ||
C9J845 | C9J845_HUMAN | Microphthalmia-associated transcrip... | MITF | 157 | Annotation score: | ||
C9K0S7 | C9K0S7_HUMAN | Microphthalmia-associated transcrip... | MITF | 70 | Annotation score: | ||
A0A087WXU1 | A0A087WXU1_HUMAN | Microphthalmia-associated transcrip... | MITF | 91 | Annotation score: | ||
E9PKJ8 | E9PKJ8_HUMAN | Microphthalmia-associated transcrip... | MITF | 105 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 241 | I → T in BAG58874 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078311 | 294 | A → T in WS2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1559742541Ensembl. | 1 | |
Natural variantiVAR_010297 | 310 | R → K in WS2A; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_077922 | 313 | K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325EnsemblClinVar. | 1 | |
Natural variantiVAR_010298 | 317 | N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745EnsemblClinVar. | 1 | |
Natural variantiVAR_077923 | 324 | R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326EnsemblClinVar. | 1 | |
Natural variantiVAR_010299 | 324 | Missing 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 PublicationsCorresponds to variant dbSNP:rs1553704814Ensembl. | 1 | |
Natural variantiVAR_010300 | 357 | S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744EnsemblClinVar. | 1 | |
Natural variantiVAR_010301 | 385 | N → D in WS2A. 1 Publication | 1 | |
Natural variantiVAR_010302 | 405 | S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747EnsemblClinVar. | 1 | |
Natural variantiVAR_067367 | 425 | E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002127 | 1 – 118 | MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsAdd BLAST | 118 | |
Alternative sequenceiVSP_046438 | 1 – 52 | Missing in isoform 12. 1 PublicationAdd BLAST | 52 | |
Alternative sequenceiVSP_002126 | 1 – 35 | MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedAdd BLAST | 35 | |
Alternative sequenceiVSP_002124 | 1 – 34 | MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedAdd BLAST | 34 | |
Alternative sequenceiVSP_002125 | 1 – 34 | MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedAdd BLAST | 34 | |
Alternative sequenceiVSP_045178 | 139 – 194 | Missing in isoform Mdel. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_045179 | 293 – 298 | Missing in isoform Mdel and isoform 12. 2 Publications | 6 | |
Alternative sequenceiVSP_002128 | 294 – 299 | Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 Publications | 6 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000314557; ENSP00000324246; ENSG00000187098 [O75030-10] ENST00000314589; ENSP00000324443; ENSG00000187098 [O75030-8] ENST00000352241; ENSP00000295600; ENSG00000187098 ENST00000394351; ENSP00000377880; ENSG00000187098 [O75030-9] ENST00000448226; ENSP00000391803; ENSG00000187098 [O75030-6] ENST00000472437; ENSP00000418845; ENSG00000187098 [O75030-12] ENST00000531774; ENSP00000435909; ENSG00000187098 [O75030-11] ENST00000642352; ENSP00000494105; ENSG00000187098 [O75030-2] |
GeneIDi | 4286 |
KEGGi | hsa:4286 |
MANE-Selecti | ENST00000352241.9; ENSP00000295600.8; NM_001354604.2; NP_001341533.1 |
UCSCi | uc003dnz.4, human [O75030-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4C7N | X-ray | 2.10 | A | 357-403 | [»] | |
7D8R | X-ray | 3.00 | A/B/C/D | 324-395 | [»] | |
7D8S | X-ray | 2.28 | A/B/C/D | 306-395 | [»] | |
7D8T | X-ray | 3.20 | A/B | 306-395 | [»] | |
SMRi | O75030 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110432, 37 interactors |
DIPi | DIP-59573N |
IntActi | O75030, 15 interactors |
MINTi | O75030 |
STRINGi | 9606.ENSP00000295600 |
Chemistry databases
ChEMBLi | CHEMBL1741165 |
PTM databases
iPTMneti | O75030 |
PhosphoSitePlusi | O75030 |
Genetic variation databases
BioMutai | MITF |
Proteomic databases
jPOSTi | O75030 |
MassIVEi | O75030 |
MaxQBi | O75030 |
PaxDbi | O75030 |
PeptideAtlasi | O75030 |
PRIDEi | O75030 |
ProteomicsDBi | 12779 20138 49704 [O75030-1] 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
Antibodypediai | 923, 917 antibodies from 46 providers |
DNASUi | 4286 |
Genome annotation databases
Organism-specific databases
CTDi | 4286 |
DisGeNETi | 4286 |
GeneCardsi | MITF |
HGNCi | HGNC:7105, MITF |
HPAi | ENSG00000187098, Low tissue specificity |
MalaCardsi | MITF |
MIMi | 103500, phenotype 156845, gene 193510, phenotype 614456, phenotype 617306, phenotype |
neXtProti | NX_O75030 |
OpenTargetsi | ENSG00000187098 |
Orphaneti | 404511, Clear cell papillary renal cell carcinoma 618, Familial melanoma 293822, MITF-related melanoma and renal cell carcinoma predisposition syndrome 319298, Papillary renal cell carcinoma 42665, Tietz syndrome 895, Waardenburg syndrome type 2 897, Waardenburg-Shah syndrome |
PharmGKBi | PA30823 |
VEuPathDBi | HostDB:ENSG00000187098 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000156326 |
HOGENOMi | CLU_031638_2_0_1 |
InParanoidi | O75030 |
OMAi | MANTXCI |
OrthoDBi | 1211990at2759 |
PhylomeDBi | O75030 |
TreeFami | TF317174 |
Enzyme and pathway databases
PathwayCommonsi | O75030 |
Reactomei | R-HSA-3232118, SUMOylation of transcription factors |
SignaLinki | O75030 |
SIGNORi | O75030 |
Miscellaneous databases
BioGRID-ORCSi | 4286, 25 hits in 1073 CRISPR screens |
ChiTaRSi | MITF, human |
GeneWikii | Microphthalmia-associated_transcription_factor |
GenomeRNAii | 4286 |
Pharosi | O75030, Tbio |
PROi | PR:O75030 |
RNActi | O75030, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000187098, Expressed in pigmented layer of retina and 249 other tissues |
ExpressionAtlasi | O75030, baseline and differential |
Genevisiblei | O75030, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR031867, MiT/TFE_N IPR030532, MITF |
PANTHERi | PTHR45776:SF4, PTHR45776:SF4, 1 hit |
Pfami | View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit PF15951, MITF_TFEB_C_3_N, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MITF_HUMAN | |
Accessioni | O75030Primary (citable) accession number: O75030 Secondary accession number(s): B4DJL2 Q9P2Y8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | February 21, 2001 | |
Last modified: | February 23, 2022 | |
This is version 213 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families