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O75030

- MITF_HUMAN

UniProt

O75030 - MITF_HUMAN

Protein

Microphthalmia-associated transcription factor

Gene

MITF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: UniProtKB
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
    5. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. bone remodeling Source: Ensembl
    2. camera-type eye development Source: Ensembl
    3. canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: Ensembl
    4. cell fate commitment Source: Ensembl
    5. melanocyte differentiation Source: UniProtKB
    6. osteoclast differentiation Source: Ensembl
    7. positive regulation of transcription, DNA-templated Source: UniProtKB
    8. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    9. protein complex assembly Source: UniProtKB
    10. regulation of cell proliferation Source: Ensembl
    11. regulation of osteoclast differentiation Source: Ensembl
    12. regulation of transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiO75030.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Microphthalmia-associated transcription factor
    Alternative name(s):
    Class E basic helix-loop-helix protein 32
    Short name:
    bHLHe32
    Gene namesi
    Name:MITF
    Synonyms:BHLHE32
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:7105. MITF.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Waardenburg syndrome 2A (WS2A) [MIM:193510]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti310 – 3101R → K in WS2A; unknown pathological significance. 1 Publication
    VAR_010297
    Natural varianti324 – 3241Missing in WS2A. 1 Publication
    VAR_010299
    Natural varianti357 – 3571S → P in WS2A. 1 Publication
    VAR_010300
    Natural varianti385 – 3851N → D in WS2A. 1 Publication
    VAR_010301
    Natural varianti405 – 4051S → P in WS2A. 1 Publication
    VAR_010302
    Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) [MIM:103470]: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Tietz syndrome (TIETZS) [MIM:103500]: Autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti317 – 3171N → K in TIETZS. 1 Publication
    VAR_010298
    Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti425 – 4251E → K May be associated with susceptibility to CMM8; has increased frequency in individuals with melanoma or renal cell carcinoma compared to controls; affects sumoylation. 2 Publications
    Corresponds to variant rs149617956 [ dbSNP | Ensembl ].
    VAR_067367

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi180 – 1801S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication
    Mutagenesisi289 – 2891K → R: Loss of sumoylation; when associated with R-423. 1 Publication
    Mutagenesisi405 – 4051S → A or P: Loss of phosphorylation and function. 1 Publication
    Mutagenesisi423 – 4231K → R: Loss of sumoylation; when associated with R-289. 1 Publication
    Mutagenesisi516 – 5161S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication

    Keywords - Diseasei

    Albinism, Deafness, Disease mutation, Waardenburg syndrome

    Organism-specific databases

    MIMi103470. phenotype.
    103500. phenotype.
    193510. phenotype.
    614456. phenotype.
    Orphaneti319276. Clear cell renal carcinoma.
    293822. MITF-related melanoma and renal cell carcinoma predisposition syndrome.
    352740. Ocular albinism with congenital sensorineural deafness.
    319298. Papillary renal cell carcinoma.
    42665. Tietz syndrome.
    895. Waardenburg syndrome type 2.
    PharmGKBiPA30823.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 526526Microphthalmia-associated transcription factorPRO_0000127276Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei180 – 1801Phosphoserine; by MAPK1 Publication
    Cross-linki289 – 289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Modified residuei405 – 4051Phosphoserine; by GSK31 Publication
    Modified residuei414 – 4141Phosphoserine2 Publications
    Cross-linki423 – 423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Modified residuei491 – 4911Phosphoserine1 Publication
    Modified residuei516 – 5161Phosphoserine; by RPS6KA11 Publication

    Post-translational modificationi

    Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring 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.2 Publications
    Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiO75030.
    PaxDbiO75030.
    PRIDEiO75030.

    PTM databases

    PhosphoSiteiO75030.

    Miscellaneous databases

    PMAP-CutDBO75030.

    Expressioni

    Tissue specificityi

    Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines.1 Publication

    Gene expression databases

    ArrayExpressiO75030.
    BgeeiO75030.
    CleanExiHS_MITF.
    GenevestigatoriO75030.

    Organism-specific databases

    HPAiCAB002578.
    HPA003259.

    Interactioni

    Subunit structurei

    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. Identified in a complex with HINT1 and CTNNB1.2 Publications

    Protein-protein interaction databases

    BioGridi110432. 23 interactions.
    DIPiDIP-59573N.
    IntActiO75030. 4 interactions.
    MINTiMINT-7997258.
    STRINGi9606.ENSP00000295600.

    Structurei

    Secondary structure

    1
    526
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi357 – 40145

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4C7NX-ray2.10A357-403[»]
    ProteinModelPortaliO75030.
    SMRiO75030. Positions 312-402.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini311 – 36454bHLHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni224 – 29572TransactivationAdd
    BLAST
    Regioni374 – 39522Leucine-zipperAdd
    BLAST
    Regioni401 – 43131DNA binding regulationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MiT/TFE family.Curated
    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG251286.
    HOGENOMiHOG000231368.
    HOVERGENiHBG006768.
    InParanoidiO75030.
    KOiK09455.
    OMAiYSNQGLP.
    OrthoDBiEOG72G182.
    PhylomeDBiO75030.
    TreeFamiTF317174.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR021802. bHLH_ZIP_TF_MiT/TFE.
    [Graphical view]
    PfamiPF11851. DUF3371. 1 hit.
    PF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequences (12)i

    Sequence statusi: Complete.

    This entry describes 12 isoformsi produced by alternative splicing. Align

    Note: The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.

    Isoform A1 (identifier: O75030-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS    50
    SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV 100
    SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRQQVK QYLSTTLANK 150
    HANQVLSLPC PNQPGDHVMP PVPGSSAPNS PMAMLTLNSN CEKEGFYKFE 200
    EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 250
    MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 300
    SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK 350
    GTILKASVDY IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR 400
    AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL 450
    TDGTITFNNN LGTGTEANQA YSVPTKMGSK LEDILMDDTL SPVGVTDPLL 500
    SSVSPGASKT SSRRSSMSME ETEHTC 526
    Length:526
    Mass (Da):58,795
    Last modified:February 21, 2001 - v2
    Checksum:i136EBED3044C1986
    GO
    Isoform A2 (identifier: O75030-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         294-299: Missing.

    Show »
    Length:520
    Mass (Da):58,163
    Checksum:iDEE08CB1E59B9511
    GO
    Isoform B1 (identifier: O75030-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH

    Show »
    Length:501
    Mass (Da):56,038
    Checksum:i57BB6D9C60C50A76
    GO
    Isoform B2 (identifier: O75030-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
         294-299: Missing.

    Show »
    Length:495
    Mass (Da):55,405
    Checksum:i8D10FAE2E7A855FD
    GO
    Isoform C1 (identifier: O75030-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR

    Show »
    Length:525
    Mass (Da):58,664
    Checksum:iE9976026708CA76E
    GO
    Isoform C2 (identifier: O75030-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
         294-299: Missing.

    Show »
    Length:519
    Mass (Da):58,031
    Checksum:i90083765F3F0AA7C
    GO
    Isoform H1 (identifier: O75030-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL

    Show »
    Length:510
    Mass (Da):57,045
    Checksum:i19568959E6CBC288
    GO
    Isoform H2 (identifier: O75030-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
         294-299: Missing.

    Show »
    Length:504
    Mass (Da):56,412
    Checksum:iB5EE812DB5750430
    GO
    Isoform M1 (identifier: O75030-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ

    Show »
    Length:419
    Mass (Da):46,938
    Checksum:i81B2DAF59F3C26D8
    GO
    Isoform M2 (identifier: O75030-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
         294-299: Missing.

    Show »
    Length:413
    Mass (Da):46,305
    Checksum:iD1BE704770F24258
    GO
    Isoform Mdel (identifier: O75030-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
         139-194: Missing.
         293-298: Missing.

    Show »
    Length:357
    Mass (Da):40,365
    Checksum:iC4072E16DBABBD76
    GO
    Isoform 12 (identifier: O75030-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-52: Missing.
         293-298: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:468
    Mass (Da):52,527
    Checksum:i3608D0683C05C79D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti241 – 2411I → T in BAG58874. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti310 – 3101R → K in WS2A; unknown pathological significance. 1 Publication
    VAR_010297
    Natural varianti317 – 3171N → K in TIETZS. 1 Publication
    VAR_010298
    Natural varianti324 – 3241Missing in WS2A. 1 Publication
    VAR_010299
    Natural varianti357 – 3571S → P in WS2A. 1 Publication
    VAR_010300
    Natural varianti385 – 3851N → D in WS2A. 1 Publication
    VAR_010301
    Natural varianti405 – 4051S → P in WS2A. 1 Publication
    VAR_010302
    Natural varianti425 – 4251E → K May be associated with susceptibility to CMM8; has increased frequency in individuals with melanoma or renal cell carcinoma compared to controls; affects sumoylation. 2 Publications
    Corresponds to variant rs149617956 [ dbSNP | Ensembl ].
    VAR_067367

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 118118MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsVSP_002127Add
    BLAST
    Alternative sequencei1 – 5252Missing in isoform 12. 1 PublicationVSP_046438Add
    BLAST
    Alternative sequencei1 – 3535MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedVSP_002126Add
    BLAST
    Alternative sequencei1 – 3434MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedVSP_002124Add
    BLAST
    Alternative sequencei1 – 3434MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedVSP_002125Add
    BLAST
    Alternative sequencei139 – 19456Missing in isoform Mdel. 1 PublicationVSP_045178Add
    BLAST
    Alternative sequencei293 – 2986Missing in isoform Mdel and isoform 12. 2 PublicationsVSP_045179
    Alternative sequencei294 – 2996Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 PublicationsVSP_002128

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006909 mRNA. Translation: BAA32288.1.
    AB006989 mRNA. No translation available.
    Z29678 mRNA. Translation: CAA82775.1.
    GU355676 mRNA. Translation: ADB90411.1.
    AL110195 mRNA. Translation: CAB53672.1.
    AK296129 mRNA. Translation: BAG58874.1.
    AC099326 Genomic DNA. No translation available.
    AC104445 Genomic DNA. No translation available.
    AC104449 Genomic DNA. No translation available.
    AC124915 Genomic DNA. No translation available.
    BC026961 mRNA. Translation: AAH26961.1.
    BC065243 mRNA. Translation: AAH65243.1.
    AF034755 Genomic DNA. Translation: AAC39639.1.
    AB032359 Genomic DNA. Translation: BAA95208.1.
    AB032358 Genomic DNA. Translation: BAA95207.1.
    AB032357 Genomic DNA. Translation: BAA95206.1.
    AB009608 Genomic DNA. Translation: BAA95209.1. Different termination.
    CCDSiCCDS2913.1. [O75030-9]
    CCDS43106.1. [O75030-2]
    CCDS43107.1. [O75030-10]
    CCDS46865.1. [O75030-8]
    CCDS46866.2. [O75030-11]
    CCDS54607.1. [O75030-12]
    PIRiI38024.
    T14752.
    RefSeqiNP_000239.1. NM_000248.3. [O75030-9]
    NP_001171896.1. NM_001184967.1. [O75030-12]
    NP_006713.1. NM_006722.2. [O75030-6]
    NP_937801.1. NM_198158.2. [O75030-10]
    NP_937802.1. NM_198159.2. [O75030-2]
    NP_937820.1. NM_198177.2. [O75030-8]
    NP_937821.2. NM_198178.2. [O75030-11]
    XP_005264811.1. XM_005264754.1. [O75030-1]
    XP_005264812.1. XM_005264755.1. [O75030-7]
    UniGeneiHs.166017.
    Hs.618266.

    Genome annotation databases

    EnsembliENST00000314557; ENSP00000324246; ENSG00000187098. [O75030-10]
    ENST00000314589; ENSP00000324443; ENSG00000187098. [O75030-8]
    ENST00000328528; ENSP00000327867; ENSG00000187098. [O75030-6]
    ENST00000352241; ENSP00000295600; ENSG00000187098. [O75030-2]
    ENST00000394351; ENSP00000377880; ENSG00000187098. [O75030-9]
    ENST00000448226; ENSP00000391803; ENSG00000187098. [O75030-1]
    ENST00000472437; ENSP00000418845; ENSG00000187098. [O75030-12]
    ENST00000531774; ENSP00000435909; ENSG00000187098. [O75030-11]
    GeneIDi4286.
    KEGGihsa:4286.
    UCSCiuc003dnz.3. human. [O75030-2]
    uc003doa.3. human. [O75030-6]
    uc003dob.3. human. [O75030-8]
    uc003doe.3. human. [O75030-10]
    uc003dof.3. human. [O75030-9]
    uc021xam.1. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006909 mRNA. Translation: BAA32288.1 .
    AB006989 mRNA. No translation available.
    Z29678 mRNA. Translation: CAA82775.1 .
    GU355676 mRNA. Translation: ADB90411.1 .
    AL110195 mRNA. Translation: CAB53672.1 .
    AK296129 mRNA. Translation: BAG58874.1 .
    AC099326 Genomic DNA. No translation available.
    AC104445 Genomic DNA. No translation available.
    AC104449 Genomic DNA. No translation available.
    AC124915 Genomic DNA. No translation available.
    BC026961 mRNA. Translation: AAH26961.1 .
    BC065243 mRNA. Translation: AAH65243.1 .
    AF034755 Genomic DNA. Translation: AAC39639.1 .
    AB032359 Genomic DNA. Translation: BAA95208.1 .
    AB032358 Genomic DNA. Translation: BAA95207.1 .
    AB032357 Genomic DNA. Translation: BAA95206.1 .
    AB009608 Genomic DNA. Translation: BAA95209.1 . Different termination.
    CCDSi CCDS2913.1. [O75030-9 ]
    CCDS43106.1. [O75030-2 ]
    CCDS43107.1. [O75030-10 ]
    CCDS46865.1. [O75030-8 ]
    CCDS46866.2. [O75030-11 ]
    CCDS54607.1. [O75030-12 ]
    PIRi I38024.
    T14752.
    RefSeqi NP_000239.1. NM_000248.3. [O75030-9 ]
    NP_001171896.1. NM_001184967.1. [O75030-12 ]
    NP_006713.1. NM_006722.2. [O75030-6 ]
    NP_937801.1. NM_198158.2. [O75030-10 ]
    NP_937802.1. NM_198159.2. [O75030-2 ]
    NP_937820.1. NM_198177.2. [O75030-8 ]
    NP_937821.2. NM_198178.2. [O75030-11 ]
    XP_005264811.1. XM_005264754.1. [O75030-1 ]
    XP_005264812.1. XM_005264755.1. [O75030-7 ]
    UniGenei Hs.166017.
    Hs.618266.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4C7N X-ray 2.10 A 357-403 [» ]
    ProteinModelPortali O75030.
    SMRi O75030. Positions 312-402.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110432. 23 interactions.
    DIPi DIP-59573N.
    IntActi O75030. 4 interactions.
    MINTi MINT-7997258.
    STRINGi 9606.ENSP00000295600.

    Chemistry

    ChEMBLi CHEMBL1741165.

    PTM databases

    PhosphoSitei O75030.

    Proteomic databases

    MaxQBi O75030.
    PaxDbi O75030.
    PRIDEi O75030.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314557 ; ENSP00000324246 ; ENSG00000187098 . [O75030-10 ]
    ENST00000314589 ; ENSP00000324443 ; ENSG00000187098 . [O75030-8 ]
    ENST00000328528 ; ENSP00000327867 ; ENSG00000187098 . [O75030-6 ]
    ENST00000352241 ; ENSP00000295600 ; ENSG00000187098 . [O75030-2 ]
    ENST00000394351 ; ENSP00000377880 ; ENSG00000187098 . [O75030-9 ]
    ENST00000448226 ; ENSP00000391803 ; ENSG00000187098 . [O75030-1 ]
    ENST00000472437 ; ENSP00000418845 ; ENSG00000187098 . [O75030-12 ]
    ENST00000531774 ; ENSP00000435909 ; ENSG00000187098 . [O75030-11 ]
    GeneIDi 4286.
    KEGGi hsa:4286.
    UCSCi uc003dnz.3. human. [O75030-2 ]
    uc003doa.3. human. [O75030-6 ]
    uc003dob.3. human. [O75030-8 ]
    uc003doe.3. human. [O75030-10 ]
    uc003dof.3. human. [O75030-9 ]
    uc021xam.1. human.

    Organism-specific databases

    CTDi 4286.
    GeneCardsi GC03P069788.
    HGNCi HGNC:7105. MITF.
    HPAi CAB002578.
    HPA003259.
    MIMi 103470. phenotype.
    103500. phenotype.
    156845. gene.
    193510. phenotype.
    614456. phenotype.
    neXtProti NX_O75030.
    Orphaneti 319276. Clear cell renal carcinoma.
    293822. MITF-related melanoma and renal cell carcinoma predisposition syndrome.
    352740. Ocular albinism with congenital sensorineural deafness.
    319298. Papillary renal cell carcinoma.
    42665. Tietz syndrome.
    895. Waardenburg syndrome type 2.
    PharmGKBi PA30823.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG251286.
    HOGENOMi HOG000231368.
    HOVERGENi HBG006768.
    InParanoidi O75030.
    KOi K09455.
    OMAi YSNQGLP.
    OrthoDBi EOG72G182.
    PhylomeDBi O75030.
    TreeFami TF317174.

    Enzyme and pathway databases

    SignaLinki O75030.

    Miscellaneous databases

    GeneWikii Microphthalmia-associated_transcription_factor.
    GenomeRNAii 4286.
    NextBioi 16861.
    PMAP-CutDB O75030.
    PROi O75030.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75030.
    Bgeei O75030.
    CleanExi HS_MITF.
    Genevestigatori O75030.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR021802. bHLH_ZIP_TF_MiT/TFE.
    [Graphical view ]
    Pfami PF11851. DUF3371. 1 hit.
    PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A2), NUCLEOTIDE SEQUENCE [MRNA] OF 1-35 (ISOFORMS H1/H2).
      Tissue: Kidney.
    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]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M1).
      Tissue: Skin.
    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]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM MDEL), TISSUE SPECIFICITY.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A2).
      Tissue: Uterus.
    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 12).
      Tissue: Thalamus.
    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.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS M1 AND M2).
      Tissue: Skin.
    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. Acta 1491:205-219(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1/A2; B1/B2; H1/H2 AND M1/M2).
    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]
      Cited for: ALTERNATIVE SPLICING (ISOFORM C1/C2).
      Tissue: Kidney.
    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]
      Cited for: PHOSPHORYLATION AT SER-180 AND SER-516, UBIQUITINATION, MUTAGENESIS OF SER-180 AND SER-516.
    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]
      Cited for: FUNCTION, MUTAGENESIS OF SER-405, PHOSPHORYLATION AT SER-405.
    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.
      Immunity 20:145-151(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KARS.
    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]
      Cited for: SUMOYLATION AT LYS-289 AND LYS-423, MUTAGENESIS OF LYS-289 AND LYS-423.
    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]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    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]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    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.
      , Andry-Benzaquen P., Dupin N., Boitier F., Rossi A., Perrot J.L., Labeille B., Robert C., Escudier B., Caron O., Brugieres L., Saule S., Gardie B., Gad S., Richard S., Couturier J., Teh B.T., Ghiorzo P., Pastorino L., Puig S., Badenas C., Olsson H., Ingvar C., Rouleau E., Lidereau R., Bahadoran P., Vielh P., Corda E., Blanche H., Zelenika D., Galan P., Aubin F., Bachollet B., Becuwe C., Berthet P., Bignon Y.J., Bonadona V., Bonafe J.L., Bonnet-Dupeyron M.N., Cambazard F., Chevrant-Breton J., Coupier I., Dalac S., Demange L., d'Incan M., Dugast C., Faivre L., Vincent-Fetita L., Gauthier-Villars M., Gilbert B., Grange F., Grob J.J., Humbert P., Janin N., Joly P., Kerob D., Lasset C., Leroux D., Levang J., Limacher J.M., Livideanu C., Longy M., Lortholary A., Stoppa-Lyonnet D., Mansard S., Mansuy L., Marrou K., Mateus C., Maugard C., Meyer N., Nogues C., Souteyrand P., Venat-Bouvet L., Zattara H., Chaudru V., Lenoir G.M., Lathrop M., Davidson I., Avril M.F., Demenais F., Ballotti R., Bressac-de Paillerets B.
      Nature 480:94-98(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CMM8, VARIANT LYS-425.
    18. Cited for: INVOLVEMENT IN CMM8, VARIANT LYS-425, CHARACTERIZATION OF VARIANT LYS-425.
    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 Cycle 11:2206-2215(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH HINT1 AND CTNNB1, FUNCTION.
    20. Cited for: VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405.
    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]
      Cited for: VARIANT TIETZS LYS-317.
      Tissue: Blood.

    Entry informationi

    Entry nameiMITF_HUMAN
    AccessioniPrimary (citable) accession number: O75030
    Secondary accession number(s): B4DJL2
    , D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 153 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3