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Index > Protein center > MITF(Gene name) > Human
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  • MITF (Gene name),
  • Microphthalmia-associated transcription factor (Protein name ),  MITF_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    MITF(BHLHE32);
    Protein name:
    Microphthalmia-associated transcription factor;
    Alternative:
    Class E basic helix-loop-helix protein 32(bHLHe32);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    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.
    Function:
    Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
    Subcellular Location:
    Nucleus
    Protein Attributes:
    Sequence length:
    526
    Sequence:
    50:
    MQSESGIVPD | FEVGEEFHEE | PKTYYELKSQ | PLKSSSSAEH | PGASKPPISS | 
    100:
    SSMTSRILLR | QQLMREQMQE | QERREQQQKL | QAAQFMQQRV | PVSQTPAINV | 
    150:
    SVPTTLPSAT | QVPMEVLKVQ | THLENPTKYH | IQQAQRQQVK | QYLSTTLANK | 
    200:
    HANQVLSLPC | PNQPGDHVMP | PVPGSSAPNS | PMAMLTLNSN | CEKEGFYKFE | 
    250:
    EQNRAESECP | GMNTHSRASC | MQMDDVIDDI | ISLESSYNEE | ILGLMDPALQ | 
    300:
    MANTLPVSGN | LIDLYGNQGL | PPPGLTISNS | CPANLPNIKR | ELTACIFPTE | 
    350:
    SEARALAKER | QKKDNHNLIE | RRRRFNINDR | IKELGTLIPK | SNDPDMRWNK | 
    400:
    GTILKASVDY | IRKLQREQQR | AKELENRQKK | LEHANRHLLL | RIQELEMQAR | 
    450:
    AHGLSLIPST | GLCSPDLVNR | IIKQEPVLEN | CSQDLLQHHA | DLTCTTTLDL | 
    500:
    TDGTITFNNN | LGTGTEANQA | YSVPTKMGSK | LEDILMDDTL | SPVGVTDPLL | 
    526:
    SSVSPGASKT | SSRRSSMSME | ETEHTC
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    KEGG:
    Pfam:
    MIM:
    UniGene:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Microphthalmia-associated transcription factor
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    E0547m
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    ELISA Kit for Human Microphthalmia-associated transcription factor
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    ELISA Kit for Human Microphthalmia-associated transcription factor
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    E0547r
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    CLIA Kit for Human Microphthalmia-associated transcription factor
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    U0547r
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    CLIA Kit for Human Microphthalmia-associated transcription factor
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    U0547h
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    MSDS:
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    CLIA Kit for Human Microphthalmia-associated transcription factor
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    U0547m
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Microphthalmia-associated transcription factor
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    P0547Rb-m
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    40ug/0.2ml
    Polyclonal Antibody for Human Microphthalmia-associated transcription factor
    Cat.:
    P0547Rb-r
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    40ug/0.2ml
    Polyclonal Antibody for Human Microphthalmia-associated transcription factor
    Cat.:
    P0547Rb-h
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Microphthalmia-associated transcription factor
    Monoclonal Antibody for Human Microphthalmia-associated transcription factor
    Monoclonal Antibody for Human Microphthalmia-associated transcription factor
    Protein for Human Microphthalmia-associated transcription factor
    Protein for Human Microphthalmia-associated transcription factor
    Protein for Human Microphthalmia-associated transcription factor

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    Linearity
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    References
    1. 1.
      "Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium."
      Amae S. , Fuse N. , Yasumoto K. , Sato S. , Yajima I. , Yamamoto H. , Udono T. , Durlu Y.K. , Tamai M. , Takahashi K. , Shibahara S.
      Biochem. Biophys. Res. Commun.247:710-715(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A2);NUCLEOTIDE SEQUENCE [MRNA] OF 1-35 (ISOFORMS H1/H2)
      tissue: Kidney.
    2. 2.
      "Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3."
      Tachibana M. , Perez-Jurado L.A. , Nakayama A. , Hodgkinson C.A. , Li X. , Schneider M. , Miki T. , Fex J. , Francke U. , Arnheiter H.
      Hum. Mol. Genet.3:553-557(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M1)
      tissue: Skin.
    3. 3.
      "Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma."
      Wang Y. , Radfar S. , Liu S. , Riker A.I. , Khong H.T.
      BMC Med.8:14-14(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM MDEL);TISSUE SPECIFICITY
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A2)
      tissue: Uterus.
    5. 5.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 12)
      tissue: Thalamus.
    6. 6.
      "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M. , Scherer S.E. , Kaul R. , Wang J. , Yu J. , Sudbrak R. , Buhay C.J. , Chen R. , Cree A. , Ding Y. , Dugan-Rocha S. , Gill R. , Gunaratne P. , Harris R.A. , Hawes A.C. , Hernandez J. , Hodgson A.V. , Hume J. , more...
      Nature440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    7. 7.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS M1 AND M2)
      tissue: Skin.
    8. 8.
      "Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters."
      Udono T. , Yasumoto K. , Takeda K. , Amae S. , Watanabe K. , Saito H. , Fuse N. , Tachibana M. , Takahashi K. , Tamai M. , Shibahara S.
      Biochim. Biophys. Acta1491:205-219(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1/A2; B1/B2; H1/H2 AND M1/M2)
    9. 9.
      "Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus."
      Fuse N. , Yasumoto K. , Takeda K. , Amae S. , Yoshizawa M. , Udono T. , Takahashi K. , Tamai M. , Tomita Y. , Tachibana M. , Shibahara S.
      J. Biochem.126:1043-1051(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORM C1/C2)
      tissue: Kidney.
    10. 10.
      "c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi."
      Wu M. , Hemesath T.J. , Takemoto C.M. , Horstmann M.A. , Wells A.G. , Price E.R. , Fisher D.Z. , Fisher D.E.
      Genes Dev.14:301-312(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-180 AND SER-516;UBIQUITINATION;MUTAGENESIS OF SER-180 AND SER-516
    11. 11.
      "Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance."
      Takeda K. , Takemoto C. , Kobayashi I. , Watanabe A. , Nobukuni Y. , Fisher D.E. , Tachibana M.
      Hum. Mol. Genet.9:125-132(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;MUTAGENESIS OF SER-405;PHOSPHORYLATION AT SER-405
    12. 12.
      "The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells."
      Lee Y.N. , Nechushtan H. , Figov N. , Razin E.
      Immunity20:145-151(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH KARS
    13. 13.
      "Sumoylation of MITF and its related family members TFE3 and TFEB."
      Miller A.J. , Levy C. , Davis I.J. , Razin E. , Fisher D.E.
      J. Biol. Chem.280:146-155(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUMOYLATION AT LYS-289 AND LYS-423;MUTAGENESIS OF LYS-289 AND LYS-423
    14. 14.
      "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T. , Yi W. , Lu B. , Park S.K. , Xu T. , Lee J.-D. , Yates J.R. III
      J. Proteome Res.7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    15. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    16. 16.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    17. 17.
      "A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma."
      Bertolotto C. , Lesueur F. , Giuliano S. , Strub T. , de Lichy M. , Bille K. , Dessen P. , d'Hayer B. , Mohamdi H. , Remenieras A. , Maubec E. , de la Fouchardiere A. , Molinie V. , Vabres P. , Dalle S. , Poulalhon N. , Martin-Denavit T. , Thomas L. , more...
      Nature480:94-98(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN CMM8;VARIANT LYS-425
    18. 18.
      "A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma."
      Yokoyama S. , Woods S.L. , Boyle G.M. , Aoude L.G. , MacGregor S. , Zismann V. , Gartside M. , Cust A.E. , Haq R. , Harland M. , Taylor J.C. , Duffy D.L. , Holohan K. , Dutton-Regester K. , Palmer J.M. , Bonazzi V. , Stark M.S. , Symmons J. , more...
      Nature480:99-103(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN CMM8;VARIANT LYS-425;CHARACTERIZATION OF VARIANT LYS-425
    19. 19.
      "The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells."
      Genovese G. , Ghosh P. , Li H. , Rettino A. , Sioletic S. , Cittadini A. , Sgambato A.
      Cell Cycle11:2206-2215(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION IN A COMPLEX WITH HINT1 AND CTNNB1;FUNCTION
    20. 20.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405
    21. 21.
      "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF."
      Smith S.D. , Kelley P.M. , Kenyon J.B. , Hoover D.
      J. Med. Genet.37:446-448(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT TIETZS LYS-317
      tissue: Blood.
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