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Q99750 (MDFI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
MyoD family inhibitor
Alternative name(s):
Myogenic repressor I-mf
Gene names
Name:MDFI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length246 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus By similarity. Cytoplasm By similarity.

Sequence similarities

Belongs to the MDFI family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 246246MyoD family inhibitor
PRO_0000096324

Regions

Compositional bias163 – 24381Cys-rich

Sequences

Sequence LengthMass (Da)Tools
Q99750 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 9330E52141B79E5A

FASTA24625,029
        10         20         30         40         50         60 
MYQVSGQRPS GCDAPYGAPS AAPGPAQTLS LLPGLEVVTG STHPAEAAPE EGSLEEAATP 

        70         80         90        100        110        120 
MPQGNGPGIP QGLDSTDLDV PTEAVTCQPQ GNPLGCTPLL PNDSGHPSEL GGTRRAGNGA 

       130        140        150        160        170        180 
LGGPKAHRKL QTHPSLASQG SKKSKSSSKS TTSQIPLQAQ EDCCVHCILS CLFCEFLTLC 

       190        200        210        220        230        240 
NIVLDCATCG SCSSEDSCLC CCCCGSGECA DCDLPCDLDC GILDACCESA DCLEICMECC 


GLCFSS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U78313 mRNA. Translation: AAB39748.1.
AL035588 Genomic DNA. Translation: CAB54148.1.
BC007836 mRNA. Translation: AAH07836.1.
RefSeqNP_005577.1. NM_005586.3.
UniGeneHs.520119.

3D structure databases

ProteinModelPortalQ99750.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110353. 126 interactions.
IntActQ99750. 131 interactions.
MINTMINT-190174.
STRING9606.ENSP00000230321.

PTM databases

PhosphoSiteQ99750.

Polymorphism databases

DMDM25090674.

Proteomic databases

PaxDbQ99750.
PRIDEQ99750.

Protocols and materials databases

DNASU4188.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230321; ENSP00000230321; ENSG00000112559.
ENST00000373051; ENSP00000362142; ENSG00000112559.
GeneID4188.
KEGGhsa:4188.
UCSCuc003oqq.4. human.

Organism-specific databases

CTD4188.
GeneCardsGC06P041604.
HGNCHGNC:6967. MDFI.
HPAHPA049973.
MIM604971. gene.
neXtProtNX_Q99750.
PharmGKBPA30713.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43212.
HOGENOMHOG000001577.
HOVERGENHBG031704.
InParanoidQ99750.
OMAQAQEDCC.
PhylomeDBQ99750.
TreeFamTF332113.

Gene expression databases

ArrayExpressQ99750.
BgeeQ99750.
CleanExHS_MDFI.
GenevestigatorQ99750.

Family and domain databases

InterProIPR026134. MDFI/MDFIC.
[Graphical view]
PANTHERPTHR15304. PTHR15304. 1 hit.
PfamPF15316. MDFI. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMDFI. human.
GeneWikiMDFI.
GenomeRNAi4188.
NextBio16502.
PROQ99750.
SOURCESearch...

Entry information

Entry nameMDFI_HUMAN
AccessionPrimary (citable) accession number: Q99750
Entry history
Integrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: May 1, 1997
Last modified: February 19, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM