Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O88368 (MITF_RAT) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Microphthalmia-associated transcription factor
Gene names
Name:Mitf
OrganismRattus norvegicus (Rat) [Reference proteome]
Taxonomic identifier10116 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeRattus

Protein attributes

Sequence length110 AA.
Sequence statusFragment.
Protein existenceInferred from homology

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Nucleus.

Involvement in disease

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.

Sequence similarities

Belongs to the MiT/TFE family.

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbone remodeling

Inferred from electronic annotation. Source: Ensembl

camera-type eye development

Inferred from electronic annotation. Source: Ensembl

canonical Wnt signaling pathway involved in negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

cell fate commitment

Inferred from electronic annotation. Source: Ensembl

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

osteoclast differentiation

Inferred from electronic annotation. Source: Ensembl

protein complex assembly

Inferred from electronic annotation. Source: Ensembl

regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of osteoclast differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

protein complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain‹1 – ›110›110Microphthalmia-associated transcription factor
PRO_0000127278

Regions

Domain20 – 7354bHLH
Region83 – 10422Leucine-zipper

Experimental info

Non-terminal residue11
Non-terminal residue1101

Sequences

Sequence LengthMass (Da)Tools
O88368 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 45B0C1E7F9E534AD

FASTA11013,155
        10         20         30         40         50         60 
LTACIFPTES EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS NDPDMRWNKG 

        70         80         90        100        110 
TILKASVDYI RKLQREQQRA KDLENRQKKL EHANRHLLLR VQELEMQARA 

« Hide

References

[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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF029886 mRNA. Translation: AAC26170.1.
UniGeneRn.31427.

3D structure databases

ProteinModelPortalO88368.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10116.ENSRNOP00000044350.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

UCSCRGD:3092. rat.

Organism-specific databases

RGD3092. Mitf.

Phylogenomic databases

eggNOGNOG251286.
HOGENOMHOG000231368.
InParanoidO88368.

Gene expression databases

GenevestigatorO88368.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR024097. bHLH_ZIP_TF.
[Graphical view]
PANTHERPTHR10014. PTHR10014. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROO88368.

Entry information

Entry nameMITF_RAT
AccessionPrimary (citable) accession number: O88368
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families