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O88368

- MITF_RAT

UniProt

O88368 - MITF_RAT

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Protein

Microphthalmia-associated transcription factor

Gene

Mitf

Organism
Rattus norvegicus (Rat)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript 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 (By similarity).By similarity

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  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

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: Ensembl
  6. osteoclast differentiation Source: Ensembl
  7. protein complex assembly Source: Ensembl
  8. regulation of cell proliferation Source: Ensembl
  9. regulation of osteoclast differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Microphthalmia-associated transcription factor
Gene namesi
Name:Mitf
OrganismiRattus norvegicus (Rat)
Taxonomic identifieri10116 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeRattus
ProteomesiUP000002494: Unplaced

Organism-specific databases

RGDi3092. Mitf.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Osteopetrotic rat of unknown genetic defect microphthalmia-blanc (mib) has been described whose skeletal sclerosis improves dramatically with age and that is associated with pigmentation defects. Mib at the homozygous state shows absence of skin and fur pigmentation, small eyes, and defects of incisor tooth eruption.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini‹1 – ›110›110Microphthalmia-associated transcription factorPRO_0000127278Add
BLAST

Expressioni

Gene expression databases

ExpressionAtlasiO88368. baseline.
GenevestigatoriO88368.

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 (By similarity).By similarity

Protein-protein interaction databases

STRINGi10116.ENSRNOP00000044350.

Structurei

3D structure databases

ProteinModelPortaliO88368.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 7354bHLHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni83 – 10422Leucine-zipperAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG251286.
HOGENOMiHOG000231368.
InParanoidiO88368.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Fragment.

O88368-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
LTACIFPTES EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS
60 70 80 90 100
NDPDMRWNKG TILKASVDYI RKLQREQQRA KDLENRQKKL EHANRHLLLR
110
VQELEMQARA
Length:110
Mass (Da):13,155
Last modified:November 1, 1998 - v1
Checksum:i45B0C1E7F9E534AD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11
Non-terminal residuei110 – 1101

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF029886 mRNA. Translation: AAC26170.1.
UniGeneiRn.31427.

Genome annotation databases

UCSCiRGD:3092. rat.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF029886 mRNA. Translation: AAC26170.1 .
UniGenei Rn.31427.

3D structure databases

ProteinModelPortali O88368.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 10116.ENSRNOP00000044350.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

UCSCi RGD:3092. rat.

Organism-specific databases

RGDi 3092. Mitf.

Phylogenomic databases

eggNOGi NOG251286.
HOGENOMi HOG000231368.
InParanoidi O88368.

Miscellaneous databases

PROi O88368.

Gene expression databases

ExpressionAtlasi O88368. baseline.
Genevestigatori O88368.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami 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

  1. "Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3."
    Weilbaecher K.N., Hershey C.L., Takemoto C.M., Horstmann M.A., Hemesath T.J., Tashjian A.H., Fisher D.E.
    J. Exp. Med. 187:775-785(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].

Entry informationi

Entry nameiMITF_RAT
AccessioniPrimary (citable) accession number: O88368
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1998
Last modified: October 29, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3