Mitf
entrez
25094
canonical
uniprot
O88368
canonical
ensembl
ENSRNOG00000008658
resolver
ensembl
ENSRNOG00055003910
resolver
ensembl
ENSRNOG00060004277
resolver
ensembl
ENSRNOG00065024159
resolver
ensp
ENSRNOP00000044350
resolver
ensp
ENSRNOP00000073565
resolver
ensp
ENSRNOP00000100348
resolver
ensp
ENSRNOP00000100525
resolver
ensp
ENSRNOP00055004780
resolver
ensp
ENSRNOP00060005450
resolver
ensp
ENSRNOP00065034005
resolver
enst
ENSRNOT00000051121
resolver
enst
ENSRNOT00000083127
resolver
enst
ENSRNOT00000128180
resolver
enst
ENSRNOT00055006260
resolver
enst
ENSRNOT00060007191
resolver
enst
ENSRNOT00065041614
resolver
genesymbol
Mitf
resolver
uniprot
A0A0G2K5U8
resolver
uniprot
A0A8L2ULS4
resolver
uniprot
A0ABK0L6S3
resolver
uniprot
F1LQV3
resolver
uniprot_entry
A0A0G2K5U8_RAT
resolver
uniprot_entry
A0A8L2ULS4_RAT
resolver
uniprot_entry
A0ABK0L6S3_RAT
resolver
uniprot_entry
MITF_RAT
resolver
uniprot_sec
F1LQV3
resolver
amino_acid_sequence
MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSSSSAEHSGASKPPLSSSTMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVAVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRHQVKQYLSTTLANKHAGQVLSPPCPNQPGDHAMPPVPGSSAPNSPMAMLTLNSNCEKEAFYKFEEQSRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYSNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKDLENRQKKLEHANRHLLLRVQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQELVQHQADLTCTTTLDLTDGTISFTNNLGTMPESSPAYSIPRKMASNLEDILMDDALSPVGVTDPLLSSVSPGASKTSSRRSSMSAEETEHAC
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:9480987}.
uniprot
proteins
function
FUNCTION: 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). 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. {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins
mass_dalton
58585
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (By similarity). Phosphorylated at Ser-180 and Ser-516 following KIT signaling, triggering a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome (By similarity). Phosphorylated in response to blue light (415nm) (By similarity). {ECO:0000250|UniProtKB:O75030}.; PTM: Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation. {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins
protein_family
MiT/TFE family
uniprot
proteins
pubmed
15057822
uniprot
proteins
pubmed
9480987
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O75030}. Cytoplasm {ECO:0000250|UniProtKB:O75030}. Note=Found exclusively in the nucleus upon phosphorylation. {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins