InnateDB Protein
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IDBP-172467.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Mitf
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Protein Name
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microphthalmia-associated transcription factor
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Synonyms
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BCC2; Bhlhe32; bw; Gsfbcc2; mi; vit; Vitiligo; Wh;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000044459
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InnateDB Gene
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IDBG-172461 (Mitf)
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Protein Structure
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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.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00981, ECO:0000269PubMed:8622664}.
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Disease Associations |
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.
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Tissue Specificity |
In the adult, expressed at high levels in the heart, skin, skeletal muscle, intestine, stomach, kidney, ovary, lung, spleen and brain. In the embryo, expressed in developing eye, ear, skin and heart. Isoform M is expressed in melanocytes and also in the embryonic and adult heart while isoform A and isoform H are more widely expressed. {ECO:0000269PubMed:8343963}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 29 interaction(s) predicted by orthology.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
2
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
29 [view]
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Molecular Function |
Accession |
GO Term |
GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0000979
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RNA polymerase II core promoter sequence-specific DNA binding
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GO:0001077
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
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GO:0003677
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DNA binding
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GO:0003682
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chromatin binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0003705
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RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
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GO:0043565
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sequence-specific DNA binding
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GO:0046983
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protein dimerization activity
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:104554
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InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
IPR021802
Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE
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PFAM |
PF00010
PF11851
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
Q08874
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PhosphoSite |
PhosphoSite-Q08874
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TrEMBL |
Q32MU7
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UniProt Splice Variant |
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Entrez Gene |
17342
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UniGene |
Mm.413799
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RefSeq |
NP_032627
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MGI ID |
4ATK
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MGI Symbol |
Mitf
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OMIM |
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CCDS |
CCDS20385
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HPRD |
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IMGT |
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EMBL |
AB009397
AF222344
AF222949
AF222950
AF222951
AF222952
AF222953
AF222954
AF222955
AF222956
AF222957
AF222958
AF222959
BC108976
CH466523
L22958
U19874
U19875
Z23066
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GenPept |
AAB47773
AAC52155
AAC52156
AAF63466
AAF81266
AAF81267
AAF81268
AAF81269
AAF81270
AAF81271
AAF81272
AAI08977
BAA32329
CAA80600
EDK99359
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