Microphthalmia-associated transcription factor

Details

Name
Microphthalmia-associated transcription factor
Synonyms
  • BHLHE32
  • Class E basic helix-loop-helix protein 32
Gene Name
MITF
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052607|Microphthalmia-associated transcription factor
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDY
IRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
Number of residues
526
Molecular Weight
58795.035
Theoretical pI
Not Available
GO Classification
Functions
chromatin binding / DNA-binding transcription activator activity, RNA polymerase II-specific / DNA-binding transcription factor activity, RNA polymerase II-specific / DNA-binding transcription repressor activity, RNA polymerase II-specific / E-box binding / protein dimerization activity / RNA polymerase II cis-regulatory region sequence-specific DNA binding
Processes
bone remodeling / camera-type eye development / canonical Wnt signaling pathway involved in negative regulation of apoptotic process / cell fate commitment / melanocyte differentiation / negative regulation of cell migration / negative regulation of transcription by RNA polymerase II / osteoclast differentiation / positive regulation of DNA-templated transcription, initiation / positive regulation of gene expression / positive regulation of transcription by RNA polymerase II / positive regulation of transcription, DNA-templated / protein-containing complex assembly / regulation of cell population proliferation / regulation of osteoclast differentiation / regulation of RNA biosynthetic process / regulation of transcription by RNA polymerase II / regulation of transcription, DNA-templated / transcription, DNA-templated
Components
chromatin / cytoplasm / nucleoplasm / nucleus / protein-containing complex
General 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.
Specific Function
Chromatin binding
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Nucleus
Gene sequence
>lcl|BSEQ0052608|Microphthalmia-associated transcription factor (MITF)
ATGCAGTCCGAATCGGGGATCGTGCCGGATTTCGAAGTCGGGGAGGAGTTTCATGAAGAG
CCCAAAACCTATTACGAACTCAAAAGTCAACCGCTGAAGAGCAGCAGTTCCGCCGAGCAT
CCTGGGGCCTCCAAGCCTCCGATAAGCTCCTCCAGTATGACATCACGCATCTTGCTACGC
CAGCAACTCATGCGTGAGCAGATGCAGGAGCAGGAGCGCAGGGAGCAGCAGCAGAAGCTG
CAGGCGGCCCAGTTCATGCAACAGAGAGTGCCCGTGAGTCAGACACCAGCCATAAACGTC
AGTGTGCCCACCACCCTTCCCTCTGCCACGCAGGTGCCGATGGAAGTCCTTAAGGTGCAG
ACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAG
CAGTACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGT
CCAAACCAGCCTGGCGATCATGTCATGCCACCGGTGCCGGGGAGCAGCGCACCCAACAGC
CCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAA
GAGCAAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGT
ATGCAGATGGATGATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAA
ATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAAC
TTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCC
TGTCCAGCCAACCTTCCCAACATAAAAAGGGAGCTCACAGAGTCTGAAGCAAGAGCACTG
GCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAAC
ATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATG
CGCTGGAACAAGGGAACCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGA
GAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGG
CATTTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTT
ATTCCATCCACGGGTCTCTGCTCTCCAGATTTGGTGAATCGGATCATCAAGCAAGAACCC
GTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACA
ACTCTCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAG
GCCAACCAAGCCTATAGTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATG
GACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGA
GCTTCCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGT
TAG
Chromosome Location
3
Locus
3p13
External Identifiers
ResourceLink
UniProtKB IDO75030
UniProtKB Entry NameMITF_HUMAN
HGNC IDHGNC:7105
General References
  1. Amae S, Fuse N, Yasumoto K, Sato S, Yajima I, Yamamoto H, Udono T, Durlu YK, Tamai M, Takahashi K, Shibahara S: Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun. 1998 Jun 29;247(3):710-5. doi: 10.1006/bbrc.1998.8838. [Article]
  2. Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H: Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet. 1994 Apr;3(4):553-7. doi: 10.1093/hmg/3.4.553. [Article]
  3. Wang Y, Radfar S, Liu S, Riker AI, Khong HT: Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma. BMC Med. 2010 Feb 17;8:14. doi: 10.1186/1741-7015-8-14. [Article]
  4. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001 Mar;11(3):422-35. [Article]
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  11. Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M: Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet. 2000 Jan 1;9(1):125-32. doi: 10.1093/hmg/9.1.125. [Article]
  12. Lee YN, Nechushtan H, Figov N, Razin E: The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells. Immunity. 2004 Feb;20(2):145-51. [Article]
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  17. Genovese G, Ghosh P, Li H, Rettino A, Sioletic S, Cittadini A, Sgambato A: The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells. Cell Cycle. 2012 Jun 1;11(11):2206-15. doi: 10.4161/cc.20765. Epub 2012 Jun 1. [Article]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails