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Q99750

- MDFI_HUMAN

UniProt

Q99750 - MDFI_HUMAN

Protein

MyoD family inhibitor

Gene

MDFI

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. activation of JUN kinase activity Source: Ensembl
    2. cytoplasmic sequestering of transcription factor Source: ProtInc
    3. dorsal/ventral axis specification Source: UniProtKB
    4. embryo development Source: ProtInc
    5. embryonic skeletal system morphogenesis Source: Ensembl
    6. negative regulation of DNA binding Source: UniProtKB
    7. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    8. negative regulation of Wnt signaling pathway Source: UniProtKB
    9. trophoblast giant cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MyoD family inhibitor
    Alternative name(s):
    Myogenic repressor I-mf
    Gene namesi
    Name:MDFI
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:6967. MDFI.

    Subcellular locationi

    Nucleus By similarity. Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30713.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 246246MyoD family inhibitorPRO_0000096324Add
    BLAST

    Proteomic databases

    PaxDbiQ99750.
    PRIDEiQ99750.

    PTM databases

    PhosphoSiteiQ99750.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99750.
    BgeeiQ99750.
    CleanExiHS_MDFI.
    GenevestigatoriQ99750.

    Organism-specific databases

    HPAiHPA049973.

    Interactioni

    Subunit structurei

    The C-terminus interacts with AXIN1 and LEF1.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    AQP1P299724EBI-724076,EBI-745213
    AQP5P550643EBI-724076,EBI-746103
    C10orf62Q5T6814EBI-724076,EBI-744052
    C19orf60Q96EN93EBI-724076,EBI-745810
    C8orf48Q96LL43EBI-724076,EBI-751596
    CBFA2T2O434394EBI-724076,EBI-748628
    CBX2Q147813EBI-724076,EBI-745934
    CNNM3Q8NE013EBI-724076,EBI-741032
    DCAF8Q5TAQ93EBI-724076,EBI-740686
    DKK1O949073EBI-724076,EBI-742864
    FAM124BQ9H5Z64EBI-724076,EBI-741626
    GNAI2P048992EBI-724076,EBI-353997
    Hoxa1P090223EBI-724076,EBI-3957603From a different organism.
    HOXB9P174823EBI-724076,EBI-745290
    LASP1Q148473EBI-724076,EBI-742828
    LRCH4O754273EBI-724076,EBI-718707
    NEU4Q8WWR84EBI-724076,EBI-746964
    NR1H2P550553EBI-724076,EBI-745354
    PHLDA1Q8WV243EBI-724076,EBI-738731
    PIDD1Q9HB753EBI-724076,EBI-520427
    RABL6Q3YEC72EBI-724076,EBI-742029
    SIX1Q154752EBI-724076,EBI-743675
    SLC25A10Q9UBX34EBI-724076,EBI-750394
    THEGQ9P2T03EBI-724076,EBI-751020
    ZBTB24O431673EBI-724076,EBI-744471
    ZBTB25P242782EBI-724076,EBI-739899
    ZNF136P527374EBI-724076,EBI-749129
    ZNF408Q9H9D43EBI-724076,EBI-347633
    ZNF646O150153EBI-724076,EBI-745608

    Protein-protein interaction databases

    BioGridi110353. 126 interactions.
    IntActiQ99750. 131 interactions.
    MINTiMINT-190174.
    STRINGi9606.ENSP00000230321.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99750.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi163 – 24381Cys-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MDFI family.Curated

    Phylogenomic databases

    eggNOGiNOG43212.
    HOGENOMiHOG000001577.
    HOVERGENiHBG031704.
    InParanoidiQ99750.
    OMAiQAQEDCC.
    PhylomeDBiQ99750.
    TreeFamiTF332113.

    Family and domain databases

    InterProiIPR026134. MDFI/MDFIC.
    [Graphical view]
    PANTHERiPTHR15304. PTHR15304. 1 hit.
    PfamiPF15316. MDFI. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q99750-1 [UniParc]FASTAAdd to Basket

    « Hide

    MYQVSGQRPS GCDAPYGAPS AAPGPAQTLS LLPGLEVVTG STHPAEAAPE    50
    EGSLEEAATP MPQGNGPGIP QGLDSTDLDV PTEAVTCQPQ GNPLGCTPLL 100
    PNDSGHPSEL GGTRRAGNGA LGGPKAHRKL QTHPSLASQG SKKSKSSSKS 150
    TTSQIPLQAQ EDCCVHCILS CLFCEFLTLC NIVLDCATCG SCSSEDSCLC 200
    CCCCGSGECA DCDLPCDLDC GILDACCESA DCLEICMECC GLCFSS 246
    Length:246
    Mass (Da):25,029
    Last modified:May 1, 1997 - v1
    Checksum:i9330E52141B79E5A
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78313 mRNA. Translation: AAB39748.1.
    AL035588 Genomic DNA. Translation: CAB54148.1.
    BC007836 mRNA. Translation: AAH07836.1.
    CCDSiCCDS4857.1.
    RefSeqiNP_005577.1. NM_005586.3.
    UniGeneiHs.520119.

    Genome annotation databases

    EnsembliENST00000230321; ENSP00000230321; ENSG00000112559.
    ENST00000373051; ENSP00000362142; ENSG00000112559.
    GeneIDi4188.
    KEGGihsa:4188.
    UCSCiuc003oqq.4. human.

    Polymorphism databases

    DMDMi25090674.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78313 mRNA. Translation: AAB39748.1 .
    AL035588 Genomic DNA. Translation: CAB54148.1 .
    BC007836 mRNA. Translation: AAH07836.1 .
    CCDSi CCDS4857.1.
    RefSeqi NP_005577.1. NM_005586.3.
    UniGenei Hs.520119.

    3D structure databases

    ProteinModelPortali Q99750.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110353. 126 interactions.
    IntActi Q99750. 131 interactions.
    MINTi MINT-190174.
    STRINGi 9606.ENSP00000230321.

    PTM databases

    PhosphoSitei Q99750.

    Polymorphism databases

    DMDMi 25090674.

    Proteomic databases

    PaxDbi Q99750.
    PRIDEi Q99750.

    Protocols and materials databases

    DNASUi 4188.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000230321 ; ENSP00000230321 ; ENSG00000112559 .
    ENST00000373051 ; ENSP00000362142 ; ENSG00000112559 .
    GeneIDi 4188.
    KEGGi hsa:4188.
    UCSCi uc003oqq.4. human.

    Organism-specific databases

    CTDi 4188.
    GeneCardsi GC06P041604.
    HGNCi HGNC:6967. MDFI.
    HPAi HPA049973.
    MIMi 604971. gene.
    neXtProti NX_Q99750.
    PharmGKBi PA30713.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43212.
    HOGENOMi HOG000001577.
    HOVERGENi HBG031704.
    InParanoidi Q99750.
    OMAi QAQEDCC.
    PhylomeDBi Q99750.
    TreeFami TF332113.

    Miscellaneous databases

    ChiTaRSi MDFI. human.
    GeneWikii MDFI.
    GenomeRNAii 4188.
    NextBioi 16502.
    PROi Q99750.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99750.
    Bgeei Q99750.
    CleanExi HS_MDFI.
    Genevestigatori Q99750.

    Family and domain databases

    InterProi IPR026134. MDFI/MDFIC.
    [Graphical view ]
    PANTHERi PTHR15304. PTHR15304. 1 hit.
    Pfami PF15316. MDFI. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17."
      Kraut N.
      Mamm. Genome 8:618-619(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal brain.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Muscle.

    Entry informationi

    Entry nameiMDFI_HUMAN
    AccessioniPrimary (citable) accession number: Q99750
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 15, 2002
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 109 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3