UniProtKB - Q08874 (MITF_MOUSE)
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) (PubMed:23207919).
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.
By similarity1 PublicationGO - Molecular functioni
- chromatin binding Source: MGI
- DNA binding Source: MGI
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: MGI
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: MGI
- E-box binding Source: UniProtKB
- protein dimerization activity Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: MGI
GO - Biological processi
- bone remodeling Source: MGI
- camera-type eye development Source: MGI
- canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: MGI
- cell differentiation Source: MGI
- cell fate commitment Source: MGI
- melanocyte differentiation Source: MGI
- negative regulation of apoptotic process Source: MGI
- negative regulation of cell migration Source: MGI
- negative regulation of transcription by RNA polymerase II Source: MGI
- osteoclast differentiation Source: MGI
- pigmentation Source: MGI
- positive regulation of DNA-templated transcription, initiation Source: MGI
- positive regulation of gene expression Source: MGI
- positive regulation of transcription, DNA-templated Source: MGI
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- protein-containing complex assembly Source: MGI
- regulation of cell population proliferation Source: MGI
- regulation of gene expression Source: MGI
- regulation of osteoclast differentiation Source: MGI
- regulation of RNA biosynthetic process Source: MGI
- regulation of transcription, DNA-templated Source: MGI
- regulation of transcription by RNA polymerase II Source: MGI
- transcription, DNA-templated Source: MGI
- Wnt signaling pathway Source: MGI
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-MMU-3232118, SUMOylation of transcription factors |
Names & Taxonomyi
Protein namesi | Recommended name: Microphthalmia-associated transcription factor |
Gene namesi | Name:Mitf Synonyms:Bw, Mi, Vit |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:104554, Mitf |
VEuPathDBi | HostDB:ENSMUSG00000035158 |
Subcellular locationi
Nucleus
- nucleus Source: MGI
Other locations
- cytoplasm Source: UniProtKB
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 367 – 369 | EQQ → AAA: Changes the structure of the leucine zipper and thereby confers the ability to form heterodimers with MAX. 1 Publication | 3 |
Keywords - Diseasei
Deafness, Disease variantChemistry databases
ChEMBLi | CHEMBL1075142 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127277 | 1 – 526 | Microphthalmia-associated transcription factorAdd BLAST | 526 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 180 | Phosphoserine; by MAPKBy similarity | 1 | |
Cross-linki | 289 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity | ||
Modified residuei | 405 | Phosphoserine; by GSK3By similarity | 1 | |
Modified residuei | 414 | PhosphoserineCombined sources | 1 | |
Cross-linki | 423 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity | ||
Modified residuei | 491 | PhosphoserineBy similarity | 1 | |
Modified residuei | 516 | Phosphoserine; by RPS6KA1By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
MaxQBi | Q08874 |
PaxDbi | Q08874 |
PeptideAtlasi | Q08874 |
PRIDEi | Q08874 |
ProteomicsDBi | 295620 [Q08874-1] 295621 [Q08874-2] 295622 [Q08874-3] 295623 [Q08874-4] 295624 [Q08874-5] 295625 [Q08874-6] 295626 [Q08874-7] 295627 [Q08874-8] 295628 [Q08874-9] |
PTM databases
iPTMneti | Q08874 |
PhosphoSitePlusi | Q08874 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSMUSG00000035158, Expressed in pineal body and 289 other tissues |
ExpressionAtlasi | Q08874, baseline and differential |
Genevisiblei | Q08874, MM |
Interactioni
Subunit structurei
Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:23207919). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:23207919). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (By similarity). Binds DNA as a homodimer (in vitro) (PubMed:23207919).
Interacts with KARS1 (PubMed:14975237).
Identified in a complex with HINT1 and CTNNB1 (By similarity).
Interacts with VSX2 (PubMed:23028343).
By similarity3 PublicationsGO - Molecular functioni
- protein dimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 201427, 11 interactors |
IntActi | Q08874, 1 interactor |
MINTi | Q08874 |
STRINGi | 10090.ENSMUSP00000044938 |
Miscellaneous databases
RNActi | Q08874, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q08874 |
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 | 20 – 54 | DisorderedSequence analysisAdd BLAST | 35 | |
Regioni | 155 – 179 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 224 – 291 | TransactivationBy similarityAdd BLAST | 68 | |
Regioni | 374 – 395 | Leucine-zipper1 PublicationAdd BLAST | 22 | |
Regioni | 401 – 431 | DNA binding regulationBy similarityAdd BLAST | 31 | |
Regioni | 496 – 526 | DisorderedSequence analysisAdd BLAST | 31 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 355 – 401 | Sequence analysisAdd BLAST | 47 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 28 – 54 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 497 – 515 | Polar residuesSequence analysisAdd BLAST | 19 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000156326 |
InParanoidi | Q08874 |
OMAi | MANTXCI |
OrthoDBi | 1211990at2759 |
PhylomeDBi | Q08874 |
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 (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 4 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
MQSESGIVAD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH SGASKPPLSS
60 70 80 90 100
STMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV
110 120 130 140 150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRHQVK QYLSTTLANK
160 170 180 190 200
HASQVLSSPC PNQPGDHAMP PVPGSSAPNS PMAMLTLNSN CEKEAFYKFE
210 220 230 240 250
EQSRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ
260 270 280 290 300
MANTLPVSGN LIDLYSNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE
310 320 330 340 350
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK
360 370 380 390 400
GTILKASVDY IRKLQREQQR AKDLENRQKK LEHANRHLLL RVQELEMQAR
410 420 430 440 450
AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQELVQHQA DLTCTTTLDL
460 470 480 490 500
TDGTITFTNN LGTMPESSPA YSIPRKMGSN LEDILMDDAL SPVGVTDPLL
510 520
SSVSPGASKT SSRRSSMSAE ETEHAC
The sequence of this isoform differs from the canonical sequence as follows:
139-194: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
119-222: Missing.
294-299: Missing.
318-319: LI → LSKFV
The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
119-254: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
119-254: Missing.
294-319: ACIFPTESEARALAKERQKKDNHNLI → V
The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
139-194: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVAD...ATQVPMEVLK → MLEMLEYSHYQ
294-299: Missing.
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PZ28 | E9PZ28_MOUSE | Microphthalmia-associated transcrip... | Mitf | 501 | Annotation score: | ||
A0A0N4SV79 | A0A0N4SV79_MOUSE | Microphthalmia-associated transcrip... | Mitf | 357 | Annotation score: | ||
A0A5H1ZRM6 | A0A5H1ZRM6_MOUSE | Microphthalmia-associated transcrip... | Mitf | 520 | Annotation score: | ||
D6RCW2 | D6RCW2_MOUSE | Microphthalmia-associated transcrip... | Mitf | 105 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 9 | A → P in AAF81266 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81267 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81268 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81269 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81270 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81271 (PubMed:10790403). | 1 | |
Sequence conflicti | 9 | A → P in AAF81272 (PubMed:10790403). | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural varianti | 36 – 118 | Missing in microphthalmia-red-eyed white/mi-rw. Add BLAST | 83 | |
Natural varianti | 119 – 254 | Missing in microphthalmia-white spot/mi-ws. 1 PublicationAdd BLAST | 136 | |
Natural varianti | 139 – 194 | Missing in microphthalmia-black and white spot/mi-bws. Add BLAST | 56 | |
Natural varianti | 294 – 319 | ACIFP…NHNLI → V in microphthalmia-eyeless-white/mi-ew. Add BLAST | 26 | |
Natural varianti | 294 – 299 | Missing in microphthalmia-spotted/mi-sp. | 6 | |
Natural varianti | 319 | I → N in microphthalmia-white/mi-wh. | 1 | |
Natural varianti | 323 | Missing in microphthalmia/mi. 1 Publication | 1 | |
Natural varianti | 329 | D → N in microphthalmia-vitiligo/mi-vi. | 1 | |
Natural varianti | 370 – 526 | Missing in microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di. Add BLAST | 157 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002130 | 1 – 118 | MQSES…MEVLK → MLEMLEYSHYQ in isoform M and isoform M1. 1 PublicationAdd BLAST | 118 | |
Alternative sequenceiVSP_002129 | 1 – 35 | MQSES…PLKSS → MEALRFEMLIPCSFESLCL in isoform H, isoform H1, isoform H2 and isoform H3. CuratedAdd BLAST | 35 | |
Alternative sequenceiVSP_002132 | 119 – 254 | Missing in isoform H1 and isoform H2. CuratedAdd BLAST | 136 | |
Alternative sequenceiVSP_002131 | 119 – 222 | Missing in isoform A2. CuratedAdd BLAST | 104 | |
Alternative sequenceiVSP_002133 | 139 – 194 | Missing in isoform A1 and isoform H3. CuratedAdd BLAST | 56 | |
Alternative sequenceiVSP_002135 | 294 – 319 | ACIFP…NHNLI → V in isoform H2. CuratedAdd BLAST | 26 | |
Alternative sequenceiVSP_002134 | 294 – 299 | Missing in isoform A2 and isoform M1. 1 Publication | 6 | |
Alternative sequenceiVSP_002136 | 318 – 319 | LI → LSKFV in isoform A2. Curated | 2 |
Sequence databases
Genome annotation databases
Ensembli | ENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8] ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1] ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4] |
GeneIDi | 17342 |
KEGGi | mmu:17342 |
UCSCi | uc009daz.2, mouse |
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 |
4ATH | X-ray | 1.95 | A/B | 324-403 | [»] | |
4ATI | X-ray | 2.60 | A/B | 287-403 | [»] | |
4ATK | X-ray | 2.95 | A/B | 287-403 | [»] | |
6FX5 | X-ray | 2.05 | A/B | 324-403 | [»] | |
6G1L | X-ray | 2.40 | A | 287-403 | [»] | |
SMRi | Q08874 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 201427, 11 interactors |
IntActi | Q08874, 1 interactor |
MINTi | Q08874 |
STRINGi | 10090.ENSMUSP00000044938 |
Chemistry databases
ChEMBLi | CHEMBL1075142 |
PTM databases
iPTMneti | Q08874 |
PhosphoSitePlusi | Q08874 |
Proteomic databases
MaxQBi | Q08874 |
PaxDbi | Q08874 |
PeptideAtlasi | Q08874 |
PRIDEi | Q08874 |
ProteomicsDBi | 295620 [Q08874-1] 295621 [Q08874-2] 295622 [Q08874-3] 295623 [Q08874-4] 295624 [Q08874-5] 295625 [Q08874-6] 295626 [Q08874-7] 295627 [Q08874-8] 295628 [Q08874-9] |
Protocols and materials databases
Antibodypediai | 923, 917 antibodies from 46 providers |
DNASUi | 17342 |
Genome annotation databases
Ensembli | ENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8] ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1] ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4] |
GeneIDi | 17342 |
KEGGi | mmu:17342 |
UCSCi | uc009daz.2, mouse |
Organism-specific databases
CTDi | 4286 |
MGIi | MGI:104554, Mitf |
VEuPathDBi | HostDB:ENSMUSG00000035158 |
Phylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000156326 |
InParanoidi | Q08874 |
OMAi | MANTXCI |
OrthoDBi | 1211990at2759 |
PhylomeDBi | Q08874 |
TreeFami | TF317174 |
Enzyme and pathway databases
Reactomei | R-MMU-3232118, SUMOylation of transcription factors |
Miscellaneous databases
BioGRID-ORCSi | 17342, 5 hits in 63 CRISPR screens |
ChiTaRSi | Mitf, mouse |
PROi | PR:Q08874 |
RNActi | Q08874, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000035158, Expressed in pineal body and 289 other tissues |
ExpressionAtlasi | Q08874, baseline and differential |
Genevisiblei | Q08874, MM |
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_MOUSE | |
Accessioni | Q08874Primary (citable) accession number: Q08874 Secondary accession number(s): A0A0N4SVJ5 Q9JKX9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | July 5, 2017 | |
Last modified: | February 23, 2022 | |
This is version 200 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) 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