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O88368

- MITF_RAT

UniProt

O88368 - MITF_RAT

Protein

Microphthalmia-associated transcription factor

Gene

Mitf

Organism
Rattus norvegicus (Rat)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. 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. DNA binding Source: UniProtKB-KW
    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 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

    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-SubCell
    2. protein complex Source: Ensembl

    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

    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

    LTACIFPTES EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS    50
    NDPDMRWNKG TILKASVDYI RKLQREQQRA KDLENRQKKL EHANRHLLLR 100
    VQELEMQARA 110
    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

    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 1, 2014
    This is version 96 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