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Q08874

- MITF_MOUSE

UniProt

Q08874 - MITF_MOUSE

Protein

Microphthalmia-associated transcription factor

Gene

Mitf

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 3 (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.

    GO - Molecular functioni

    1. chromatin binding Source: MGI
    2. DNA binding Source: MGI
    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: NTNU_SB
    5. RNA polymerase II core promoter sequence-specific DNA binding Source: MGI
    6. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: MGI
    7. sequence-specific DNA binding Source: MGI
    8. sequence-specific DNA binding transcription factor activity Source: MGI

    GO - Biological processi

    1. bone remodeling Source: MGI
    2. camera-type eye development Source: MGI
    3. canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: MGI
    4. cell differentiation Source: MGI
    5. cell fate commitment Source: MGI
    6. melanocyte differentiation Source: MGI
    7. negative regulation of apoptotic process Source: MGI
    8. osteoclast differentiation Source: MGI
    9. pigmentation Source: MGI
    10. positive regulation of transcription, DNA-templated Source: MGI
    11. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    12. regulation of cell proliferation Source: MGI
    13. regulation of gene expression Source: MGI
    14. regulation of osteoclast differentiation Source: MGI
    15. regulation of transcription, DNA-templated Source: MGI
    16. transcription from RNA polymerase II promoter Source: GOC
    17. Wnt signaling pathway Source: MGI

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Microphthalmia-associated transcription factor
    Gene namesi
    Name:Mitf
    Synonyms:Bw, Mi, Vit
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 6

    Organism-specific databases

    MGIiMGI:104554. Mitf.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.

    Keywords - Diseasei

    Deafness, Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 526526Microphthalmia-associated transcription factorPRO_0000127277Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei180 – 1801Phosphoserine; by MAPKBy similarity
    Cross-linki289 – 289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei405 – 4051Phosphoserine; by GSK3By similarity
    Modified residuei414 – 4141PhosphoserineBy similarity
    Cross-linki423 – 423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei491 – 4911PhosphoserineBy similarity
    Modified residuei516 – 5161Phosphoserine; by RPS6KA1By similarity

    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 By similarity.By similarity
    Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation By similarity.By similarity

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiQ08874.
    PRIDEiQ08874.

    PTM databases

    PhosphoSiteiQ08874.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Gene expression databases

    ArrayExpressiQ08874.
    BgeeiQ08874.
    CleanExiMM_MITF.
    MM_VIT.
    GenevestigatoriQ08874.

    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. Identified in a complex with HINT1 and CTNNB1 By similarity. Interacts with KARS.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi201427. 9 interactions.
    IntActiQ08874. 1 interaction.

    Structurei

    Secondary structure

    1
    526
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi324 – 33714
    Helixi350 – 36617
    Helixi368 – 40134

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4ATHX-ray1.95A/B324-403[»]
    4ATIX-ray2.60A/B287-403[»]
    4ATKX-ray2.95A/B287-403[»]
    ProteinModelPortaliQ08874.
    SMRiQ08874. Positions 324-402.
    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 – 29168TransactivationBy similarityAdd
    BLAST
    Regioni374 – 39522Leucine-zipperAdd
    BLAST
    Regioni401 – 43131DNA binding regulationBy similarityAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG251286.
    HOVERGENiHBG006768.
    InParanoidiQ08874.
    KOiK09455.
    PhylomeDBiQ08874.

    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 (9)i

    Sequence statusi: Complete.

    This entry describes 9 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q08874-1) [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 AVSQTPAINV 100
    SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRHQVK QYLSTTLANK 150
    HASQVLSSPC PNQPGDHAMP PVPGSSAPNS PMAMLTLNSN CEKEAFYKFE 200
    EQSRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 250
    MANTLPVSGN LIDLYSNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 300
    SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK 350
    GTILKASVDY IRKLQREQQR AKDLENRQKK LEHANRHLLL RVQELEMQAR 400
    AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQELVQHQA DLTCTTTLDL 450
    TDGTITFTNN LGTMPESSPA YSIPRKMGSN LEDILMDDAL SPVGVTDPLL 500
    SSVSPGASKT SSRRSSMSAE ETEHAC 526
    Length:526
    Mass (Da):58,627
    Last modified:February 21, 2001 - v3
    Checksum:i46F759A85ECC4B73
    GO
    Isoform A1 (identifier: Q08874-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         139-194: Missing.

    Show »
    Length:470
    Mass (Da):52,768
    Checksum:iA355DD0C45BC9E31
    GO
    Isoform A2 (identifier: Q08874-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         119-222: Missing.
         294-299: Missing.
         318-319: LI → LSKFV

    Show »
    Length:419
    Mass (Da):46,837
    Checksum:i99F18E2972927452
    GO
    Isoform H (identifier: Q08874-4) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:510
    Mass (Da):56,814
    Checksum:i57F10FE5A4A95175
    GO
    Isoform H1 (identifier: Q08874-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
         119-254: Missing.

    Show »
    Length:374
    Mass (Da):41,769
    Checksum:iA18701591F5D55D9
    GO
    Isoform H2 (identifier: Q08874-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
         119-254: Missing.
         294-319: ACIFPTESEARALAKERQKKDNHNLI → V

    Show »
    Length:349
    Mass (Da):38,902
    Checksum:i686DEC9758924B01
    GO
    Isoform H3 (identifier: Q08874-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
         139-194: Missing.

    Show »
    Length:454
    Mass (Da):50,954
    Checksum:i9859C4B41D4CAA00
    GO
    Isoform M (identifier: Q08874-8) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:419
    Mass (Da):46,769
    Checksum:i2620A6F93CDED178
    GO
    Isoform M1 (identifier: Q08874-9) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:413
    Mass (Da):46,136
    Checksum:iC1A44A4D643E435B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti41 – 411P → S in AAF81266. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81267. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81268. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81269. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81270. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81271. (PubMed:10790403)Curated
    Sequence conflicti41 – 411P → S in AAF81272. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81266. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81267. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81268. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81269. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81270. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81271. (PubMed:10790403)Curated
    Sequence conflicti48 – 481I → L in AAF81272. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81266. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81267. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81268. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81269. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81270. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81271. (PubMed:10790403)Curated
    Sequence conflicti52 – 521S → T in AAF81272. (PubMed:10790403)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 11883Missing in microphthalmia-red-eyed white/mi-rw.
    Add
    BLAST
    Natural varianti119 – 254136Missing in microphthalmia-white spot/mi-ws.
    Add
    BLAST
    Natural varianti139 – 19456Missing in microphthalmia-black and white spot/mi-bws.
    Add
    BLAST
    Natural varianti294 – 31926ACIFP…NHNLI → V in microphthalmia-eyeless-white/mi-ew.
    Add
    BLAST
    Natural varianti294 – 2996Missing in microphthalmia-spotted/mi-sp.
    Natural varianti319 – 3191I → N in microphthalmia-white/mi-wh.
    Natural varianti323 – 3231Missing in microphthalmia/mi.
    Natural varianti329 – 3291D → N in microphthalmia-vitiligo/mi-vi.
    Natural varianti370 – 526157Missing in microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di.
    Add
    BLAST

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 118118MQSES…MEVLK → MLEMLEYSHYQ in isoform M and isoform M1. 1 PublicationVSP_002130Add
    BLAST
    Alternative sequencei1 – 3535MQSES…PLKSS → MEALRFEMLIPCSFESLCL in isoform H, isoform H1, isoform H2 and isoform H3. CuratedVSP_002129Add
    BLAST
    Alternative sequencei119 – 254136Missing in isoform H1 and isoform H2. CuratedVSP_002132Add
    BLAST
    Alternative sequencei119 – 222104Missing in isoform A2. CuratedVSP_002131Add
    BLAST
    Alternative sequencei139 – 19456Missing in isoform A1 and isoform H3. CuratedVSP_002133Add
    BLAST
    Alternative sequencei294 – 31926ACIFP…NHNLI → V in isoform H2. CuratedVSP_002135Add
    BLAST
    Alternative sequencei294 – 2996Missing in isoform A2 and isoform M1. 1 PublicationVSP_002134
    Alternative sequencei318 – 3192LI → LSKFV in isoform A2. CuratedVSP_002136

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z23066 mRNA. Translation: CAA80600.1.
    AF222344 Genomic DNA. Translation: AAF63466.1.
    AF222959
    , AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81266.2.
    AF222959
    , AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81267.2.
    AF222959
    , AF222950, AF222951, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81268.2.
    AF222959
    , AF222950, AF222951, AF222956, AF222958 Genomic DNA. Translation: AAF81269.2.
    AF222959
    , AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81270.2.
    AF222959
    , AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81271.2.
    AF222959
    , AF222949, AF222951, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81272.2.
    AF222952 Genomic DNA. No translation available.
    U19874 mRNA. Translation: AAC52155.1.
    U19875 mRNA. Translation: AAC52156.1.
    L22958 mRNA. Translation: AAB47773.1.
    AB009397 mRNA. Translation: BAA32329.1.
    CCDSiCCDS20385.1. [Q08874-8]
    CCDS51861.1. [Q08874-1]
    CCDS51862.1. [Q08874-4]
    PIRiA40728.
    I49244.
    PD0026.
    RefSeqiNP_032627.1. NM_008601.3. [Q08874-8]
    XP_006505758.1. XM_006505695.1. [Q08874-9]
    UniGeneiMm.333284.
    Mm.454504.

    Genome annotation databases

    EnsembliENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158. [Q08874-8]
    GeneIDi17342.
    KEGGimmu:17342.
    UCSCiuc009dbe.2. mouse. [Q08874-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z23066 mRNA. Translation: CAA80600.1 .
    AF222344 Genomic DNA. Translation: AAF63466.1 .
    AF222959
    , AF222949 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81266.2 .
    AF222959
    , AF222950 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81267.2 .
    AF222959
    , AF222950 , AF222951 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81268.2 .
    AF222959
    , AF222950 , AF222951 , AF222956 , AF222958 Genomic DNA. Translation: AAF81269.2 .
    AF222959
    , AF222950 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81270.2 .
    AF222959
    , AF222949 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81271.2 .
    AF222959
    , AF222949 , AF222951 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81272.2 .
    AF222952 Genomic DNA. No translation available.
    U19874 mRNA. Translation: AAC52155.1 .
    U19875 mRNA. Translation: AAC52156.1 .
    L22958 mRNA. Translation: AAB47773.1 .
    AB009397 mRNA. Translation: BAA32329.1 .
    CCDSi CCDS20385.1. [Q08874-8 ]
    CCDS51861.1. [Q08874-1 ]
    CCDS51862.1. [Q08874-4 ]
    PIRi A40728.
    I49244.
    PD0026.
    RefSeqi NP_032627.1. NM_008601.3. [Q08874-8 ]
    XP_006505758.1. XM_006505695.1. [Q08874-9 ]
    UniGenei Mm.333284.
    Mm.454504.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4ATH X-ray 1.95 A/B 324-403 [» ]
    4ATI X-ray 2.60 A/B 287-403 [» ]
    4ATK X-ray 2.95 A/B 287-403 [» ]
    ProteinModelPortali Q08874.
    SMRi Q08874. Positions 324-402.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 201427. 9 interactions.
    IntActi Q08874. 1 interaction.

    Chemistry

    ChEMBLi CHEMBL1075142.

    PTM databases

    PhosphoSitei Q08874.

    Proteomic databases

    PaxDbi Q08874.
    PRIDEi Q08874.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000043628 ; ENSMUSP00000044459 ; ENSMUSG00000035158 . [Q08874-8 ]
    GeneIDi 17342.
    KEGGi mmu:17342.
    UCSCi uc009dbe.2. mouse. [Q08874-1 ]

    Organism-specific databases

    CTDi 4286.
    MGIi MGI:104554. Mitf.

    Phylogenomic databases

    eggNOGi NOG251286.
    HOVERGENi HBG006768.
    InParanoidi Q08874.
    KOi K09455.
    PhylomeDBi Q08874.

    Miscellaneous databases

    ChiTaRSi MITF. mouse.
    NextBioi 291916.
    PROi Q08874.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q08874.
    Bgeei Q08874.
    CleanExi MM_MITF.
    MM_VIT.
    Genevestigatori Q08874.

    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. "Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein."
      Hodgkinson C.A., Moore K.J., Nakayama A., Steingrimsson E., Copeland N.G., Jenkins N.A., Arnheiter H.
      Cell 74:395-404(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS M AND M1), VARIANTS MI AND MI-WS, TISSUE SPECIFICITY.
      Tissue: Melanocyte.
    2. "Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus."
      Hallsson J.H., Favor J., Hodgkinson C., Glaser T., Lamoreux M.L., Magnusdottir R., Gunnarsson G.J., Sweet H.O., Copeland N.G., Jenkins N.A., Steingrimsson E.
      Genetics 155:291-300(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, MUTAGENESIS.
      Strain: 129/Sv.
      Tissue: Heart.
    3. Cited for: SEQUENCE REVISION TO 41; 48; 52 AND 91.
    4. "Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences."
      Steingrimsson E., Moore K.J., Lamoreux M.L., Ferre-D'Amare A.R., Burley S.K., Sanders Zimring D.C., Skow L.C., Hodgkinson C.A., Arnheiter H., Copeland N.G., Jenkins N.A.
      Nat. Genet. 8:256-263(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS H AND M), VARIANTS.
      Strain: C57BL/6.
      Tissue: Heart and Melanocyte.
    5. "A helix-loop-helix transcription factor-like gene is located at the mi locus."
      Hughes M.J., Lingrel J.B., Krakowsky J.M., Anderson K.P.
      J. Biol. Chem. 268:20687-20690(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 345-392.
      Strain: C57BL/6.
      Tissue: Heart.
    6. "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: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    7. "The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential."
      Takebayashi K., Chida K., Tsukamoto I., Morii E., Munakata H., Arnheiter H., Kuroki T., Kitamura Y., Nomura S.
      Mol. Cell. Biol. 16:1203-1211(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    8. "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.
    9. "An L1 element intronic insertion in the black-eyed white (Mitfmi-bw) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness."
      Yajima I., Sato S., Kimura T., Yasumoto K., Shibahara S., Goding C.R., Yamamoto H.
      Hum. Mol. Genet. 8:1431-1441(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MI-BW.

    Entry informationi

    Entry nameiMITF_MOUSE
    AccessioniPrimary (citable) accession number: Q08874
    Secondary accession number(s): O08885
    , O88203, Q08843, Q60781, Q60782, Q9JIJ0, Q9JIJ1, Q9JIJ2, Q9JIJ3, Q9JIJ4, Q9JIJ5, Q9JIJ6, Q9JKX9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 140 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3