O88368 (MITF_RAT) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Microphthalmia-associated transcription factor

Gene names

Name:

Mitf

Organism

Rattus norvegicus (Rat) [Reference proteome]

Taxonomic identifier

10116 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Rattus

Protein attributes

Sequence length	110 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara bone remodeling Inferred from electronic annotation. Source: Compara camera-type eye development Inferred from electronic annotation. Source: Compara cell fate commitment Inferred from electronic annotation. Source: Compara melanocyte differentiation Inferred from electronic annotation. Source: Compara negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara osteoclast differentiation Inferred from electronic annotation. Source: Compara protein complex assembly Inferred from electronic annotation. Source: Compara regulation of cell proliferation Inferred from electronic annotation. Source: Compara regulation of osteoclast differentiation Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell protein complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA 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: Compara RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara chromatin binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	‹1 – ›110	›110	Microphthalmia-associated transcription factor		PRO_0000127278
Regions
	Domain	20 – 73	54	bHLH
	Region	83 – 104	22	Leucine-zipper
Experimental info
	Non-terminal residue	1	1
	Non-terminal residue	110	1

Sequences

	Sequence		Length	Mass (Da)
	O88368 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 45B0C1E7F9E534AD	FASTA	110	13,155
	10 20 30 40 50 60 LTACIFPTES EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS NDPDMRWNKG 70 80 90 100 110 TILKASVDYI RKLQREQQRA KDLENRQKKL EHANRHLLLR VQELEMQARA

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.
IPI	IPI00563001.
UniGene	Rn.31427.
3D structure databases
ProteinModelPortal	O88368.
ModBase	Search...
Protein-protein interaction databases
STRING	10116.ENSRNOP00000044350.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
UCSC	RGD:3092. rat.
Organism-specific databases
RGD	3092. Mitf.
Phylogenomic databases
eggNOG	NOG251286.
HOGENOM	HOG000231368.
InParanoid	O88368.
OrthoDB	EOG495ZRR.
Gene expression databases
ArrayExpress	O88368.
Genevestigator	O88368.
GermOnline	ENSRNOG00000008658. Rattus norvegicus.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR024097. bHLH_ZIP_TF. [Graphical view]
PANTHER	PTHR10014. PTHR10014. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

MITF_RAT

Accession

Primary (citable) accession number: O88368

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program