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Q99750

- MDFI_HUMAN

UniProt

Q99750 - MDFI_HUMAN

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Protein
MyoD family inhibitor
Gene
MDFI
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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 Wnt signaling pathway Source: UniProtKB
  8. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  9. trophoblast giant cell differentiation Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30713.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 246246MyoD family inhibitor
PRO_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
PIDDQ9HB753EBI-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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the MDFI family.

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 108 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

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