Mitf
entrez
17342
canonical
uniprot
Q08874
canonical
ensembl
ENSMUSG00000035158
resolver
ensp
ENSMUSP00000044459
resolver
ensp
ENSMUSP00000044938
resolver
ensp
ENSMUSP00000098683
resolver
ensp
ENSMUSP00000108965
resolver
ensp
ENSMUSP00000144988
resolver
ensp
ENSMUSP00000145132
resolver
ensp
ENSMUSP00000162114
resolver
ensp
ENSMUSP00000162115
resolver
ensp
ENSMUSP00000162117
resolver
ensp
ENSMUSP00000162118
resolver
enst
ENSMUST00000203884
resolver
genesymbol
Mitf
resolver
genesymbol_syn
Bw
resolver
genesymbol_syn
Mi
resolver
genesymbol_syn
Vit
resolver
uniprot
A0A0N4SVJ5
resolver
uniprot
A0A5H1ZRM6
resolver
uniprot
I6L9I6
resolver
uniprot
O08885
resolver
uniprot
O88203
resolver
uniprot
Q08843
resolver
uniprot
Q32MU7
resolver
uniprot
Q3U2D2
resolver
uniprot
Q60781
resolver
uniprot
Q60782
resolver
uniprot
Q8C6Y4
resolver
uniprot
Q9JIJ0
resolver
uniprot
Q9JIJ1
resolver
uniprot
Q9JIJ2
resolver
uniprot
Q9JIJ3
resolver
uniprot
Q9JIJ4
resolver
uniprot
Q9JIJ5
resolver
uniprot
Q9JIJ6
resolver
uniprot
Q9JKX9
resolver
uniprot_entry
A0A5H1ZRM6_MOUSE
resolver
uniprot_entry
I6L9I6_MOUSE
resolver
uniprot_entry
MITF_MOUSE
resolver
uniprot_entry
Q32MU7_MOUSE
resolver
uniprot_entry
Q8C6Y4_MOUSE
resolver
uniprot_sec
A0A0N4SVJ5
resolver
uniprot_sec
O08885
resolver
uniprot_sec
O88203
resolver
uniprot_sec
Q08843
resolver
uniprot_sec
Q3U2D2
resolver
uniprot_sec
Q60781
resolver
uniprot_sec
Q60782
resolver
uniprot_sec
Q9JIJ0
resolver
uniprot_sec
Q9JIJ1
resolver
uniprot_sec
Q9JIJ2
resolver
uniprot_sec
Q9JIJ3
resolver
uniprot_sec
Q9JIJ4
resolver
uniprot_sec
Q9JIJ5
resolver
uniprot_sec
Q9JIJ6
resolver
uniprot_sec
Q9JKX9
resolver
amino_acid_sequence
MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSSSSAEHSGASKPPLSSSTMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVAVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRHQVKQYLSTTLANKHASQVLSSPCPNQPGDHAMPPVPGSSAPNSPMAMLTLNSNCEKEAFYKFEEQSRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYSNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKDLENRQKKLEHANRHLLLRVQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQELVQHQADLTCTTTLDLTDGTITFTNNLGTMPESSPAYSIPRKMGSNLEDILMDDALSPVGVTDPLLSSVSPGASKTSSRRSSMSAEETEHAC
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Mitf are the cause of microphthalmia (mi), a condition characterized by loss of pigmentation; reduced eye size; failure of secondary bone resorption; reduced numbers of mast cells; early onset of deafness, and which gives rise to a number of different phenotypes. Among them, microphthalmia-eyeless white (mi-ew) has a normal appearance at the heterozygous state, but shows white coat; eyes almost absent and eyelids never open at homozygosity. Microphthalmia-black and white spot (mi-bws) is normal at heterozygosity, and presents white spots and black eyes at homozygous state. Microphthalmia-white (mi-wh) has reduced coat color and eye pigmentation; spots on toes, tail and belly; inner ear defects at heterozygosity, and at homozygosity shows white coat; eyes small and inner iris slightly pigmented; spinal ganglia, adrenal medulla and dermis smaller than normal, and inner ear defects. Microphthalmia-vitiligo (mi-vi) has normal phenotype at heterozygosity, but shows gradual depigmentation of coat, skin and eyes; and retinal degeneration at homozygosity. Microphthalmia-spotted (mi-sp) shows normal phenotype; at homozygosity, however, tyrosinase activity in skin is reduced. Microphthalmia-defective irism (mi-di) has reduced retinal pigmentation at heterozygosity and shows white coat; eyes of reduced sized and possible mild osteoporosis at homozygosity. Microphthalmia-cloudy eyed (mi-ce) has a normal appearance at the heterozygous state, but shows white coat; eyes of reduced size and unpigmented at homozygosity. Microphthalmia-red-eyed white (mi-rw) has a normal appearance at the homozygous state, but shows white coat with one or more pigmented spots around the head/and or tail; eyes are small and red at heterozygosity. Microphthalmia-black-eyed white (mi-bw) shows a white coat but normal sized eyes which reamin black at homozygosity. {ECO:0000269|PubMed:10400990, ECO:0000269|PubMed:7874168}.
uniprot
proteins
function
FUNCTION: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (By similarity). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (By similarity). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation (By similarity). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (By similarity). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (By similarity). 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). {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins
mass_dalton
58605
uniprot
proteins
mutagenesis
MUTAGEN 367..369; /note="EQQ->AAA: Changes the structure of the leucine zipper and thereby confers the ability to form heterodimers with MAX."; /evidence="ECO:0000269|PubMed:23207919
uniprot
proteins
post_translational_modification
PTM: When nutrients are present, phosphorylation by MTOR at Ser-5 via non-canonical mTORC1 pathway promotes ubiquitination by the SCF(BTRC) complex, followed by degradation (By similarity). Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (By similarity). Phosphorylation by MARK3/cTAK1 at Ser-280 promotes association with 14-3-3/YWHA adapters and retention in the cytosol (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 by the SCF(BTRC) and SCF(FBXW11) complexes following phosphorylation ar Ser-5 by MTOR, leading to its degradation by the proteasome (By similarity). Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome (By similarity). Deubiquitinated by USP13, preventing its degradation (By similarity). {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins
protein_family
MiT/TFE family
uniprot
proteins
pubmed
10400990
uniprot
proteins
pubmed
10790403
uniprot
proteins
pubmed
14975237
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23028343
uniprot
proteins
pubmed
23207919
uniprot
proteins
pubmed
7874168
uniprot
proteins
pubmed
8343963
uniprot
proteins
pubmed
8407885
uniprot
proteins
pubmed
8622664
uniprot
proteins
pubmed
9647758
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8622664}. Cytoplasm {ECO:0000250|UniProtKB:O75030}. Lysosome membrane {ECO:0000250|UniProtKB:O75030}. Note=When nutrients are present, recruited to the lysosomal membrane via association with GDP-bound RagC/RRAGC (or RagD/RRAGD): it is then phosphorylated by MTOR. Phosphorylation by MTOR promotes ubiquitination and degradation. Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus. Phosphorylation by MARK3/cTAK1 promotes association with 14-3-3/YWHA adapters and retention in the cytosol. {ECO:0000250|UniProtKB:O75030}.
uniprot
proteins