Human Gene MDFI (ENST00000230321.11) from GENCODE V44
  Description: Homo sapiens MyoD family inhibitor (MDFI), transcript variant 3, mRNA. (from RefSeq NM_005586)
RefSeq Summary (NM_005586): This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000230321.11
Gencode Gene: ENSG00000112559.15
Transcript (Including UTRs)
   Position: hg38 chr6:41,638,468-41,654,244 Size: 15,777 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr6:41,638,750-41,653,575 Size: 14,826 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:41,638,468-41,654,244)mRNA (may differ from genome)Protein (246 aa)
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-  Comments and Description Text from UniProtKB
  ID: MDFI_HUMAN
DESCRIPTION: RecName: Full=MyoD family inhibitor; AltName: Full=Myogenic repressor I-mf;
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: The C-terminus interacts with AXIN1 and LEF1 (By similarity).
INTERACTION: P29972:AQP1; NbExp=4; IntAct=EBI-724076, EBI-745213; P55064:AQP5; NbExp=3; IntAct=EBI-724076, EBI-746103; Q5T681:C10orf62; NbExp=4; IntAct=EBI-724076, EBI-744052; Q96EN9:C19orf60; NbExp=3; IntAct=EBI-724076, EBI-745810; Q96LL4:C8orf48; NbExp=3; IntAct=EBI-724076, EBI-751596; O43439:CBFA2T2; NbExp=3; IntAct=EBI-724076, EBI-748628; Q14781:CBX2; NbExp=3; IntAct=EBI-724076, EBI-745934; Q8NE01:CNNM3; NbExp=3; IntAct=EBI-724076, EBI-741032; Q5TAQ9:DCAF8; NbExp=3; IntAct=EBI-724076, EBI-740686; O94907:DKK1; NbExp=3; IntAct=EBI-724076, EBI-742864; Q9H5Z6:FAM124B; NbExp=4; IntAct=EBI-724076, EBI-741626; P04899:GNAI2; NbExp=2; IntAct=EBI-724076, EBI-353997; P17482:HOXB9; NbExp=3; IntAct=EBI-724076, EBI-745290; Q14847:LASP1; NbExp=3; IntAct=EBI-724076, EBI-742828; O75427:LRCH4; NbExp=3; IntAct=EBI-724076, EBI-718707; Q8WWR8:NEU4; NbExp=3; IntAct=EBI-724076, EBI-746964; P55055:NR1H2; NbExp=3; IntAct=EBI-724076, EBI-745354; Q3YEC7:PARF; NbExp=2; IntAct=EBI-724076, EBI-742029; Q8WV24:PHLDA1; NbExp=3; IntAct=EBI-724076, EBI-738731; Q9HB75:PIDD; NbExp=3; IntAct=EBI-724076, EBI-520427; Q15475:SIX1; NbExp=2; IntAct=EBI-724076, EBI-743675; Q9UBX3:SLC25A10; NbExp=3; IntAct=EBI-724076, EBI-750394; Q9P2T0:THEG; NbExp=3; IntAct=EBI-724076, EBI-751020; O43167:ZBTB24; NbExp=3; IntAct=EBI-724076, EBI-744471; P24278:ZBTB25; NbExp=2; IntAct=EBI-724076, EBI-739899; P52737:ZNF136; NbExp=3; IntAct=EBI-724076, EBI-749129; Q9H9D4:ZNF408; NbExp=3; IntAct=EBI-724076, EBI-347633; O15015:ZNF646; NbExp=3; IntAct=EBI-724076, EBI-745608;
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity).
SIMILARITY: Belongs to the MDFI family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.13 RPKM in Esophagus - Mucosa
Total median expression: 180.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.50196-0.431 Picture PostScript Text
3' UTR -302.60669-0.452 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026134 - MDFI/MDFIC

ModBase Predicted Comparative 3D Structure on Q99750
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042802 identical protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0009950 dorsal/ventral axis specification
GO:0030154 cell differentiation
GO:0030178 negative regulation of Wnt signaling pathway
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043392 negative regulation of DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048704 embryonic skeletal system morphogenesis
GO:0060707 trophoblast giant cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK290735 - Homo sapiens cDNA FLJ75668 complete cds, highly similar to Homo sapiens MyoD family inhibitor (MDFI), mRNA.
BC007836 - Homo sapiens MyoD family inhibitor, mRNA (cDNA clone MGC:14090 IMAGE:4110841), complete cds.
U78313 - Human myogenic repressor I-mf (MDFI) mRNA, complete cds.
JD076212 - Sequence 57236 from Patent EP1572962.
JD190388 - Sequence 171412 from Patent EP1572962.
JD109003 - Sequence 90027 from Patent EP1572962.
JD205549 - Sequence 186573 from Patent EP1572962.
JD408404 - Sequence 389428 from Patent EP1572962.
JD395228 - Sequence 376252 from Patent EP1572962.
AB527748 - Synthetic construct DNA, clone: pF1KB7944, Homo sapiens MDFI gene for MyoD family inhibitor, without stop codon, in Flexi system.
JF432465 - Synthetic construct Homo sapiens clone IMAGE:100073683 MyoD family inhibitor (MDFI) gene, encodes complete protein.
KJ891595 - Synthetic construct Homo sapiens clone ccsbBroadEn_00989 MDFI gene, encodes complete protein.
JD283039 - Sequence 264063 from Patent EP1572962.
JD109210 - Sequence 90234 from Patent EP1572962.
JD519520 - Sequence 500544 from Patent EP1572962.
JD372828 - Sequence 353852 from Patent EP1572962.
JD227113 - Sequence 208137 from Patent EP1572962.
JD133691 - Sequence 114715 from Patent EP1572962.
JD133822 - Sequence 114846 from Patent EP1572962.
JD187063 - Sequence 168087 from Patent EP1572962.
JD465280 - Sequence 446304 from Patent EP1572962.
JD525613 - Sequence 506637 from Patent EP1572962.
JD548779 - Sequence 529803 from Patent EP1572962.
JD041161 - Sequence 22185 from Patent EP1572962.
JD368958 - Sequence 349982 from Patent EP1572962.
JD477901 - Sequence 458925 from Patent EP1572962.
JD445974 - Sequence 426998 from Patent EP1572962.
JD302066 - Sequence 283090 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000230321.1, ENST00000230321.10, ENST00000230321.2, ENST00000230321.3, ENST00000230321.4, ENST00000230321.5, ENST00000230321.6, ENST00000230321.7, ENST00000230321.8, ENST00000230321.9, MDFI_HUMAN, NM_005586, Q99750, uc003oqq.1, uc003oqq.2, uc003oqq.3, uc003oqq.4, uc003oqq.5, uc003oqq.6
UCSC ID: ENST00000230321.11
RefSeq Accession: NM_005586
Protein: Q99750 (aka MDFI_HUMAN)
CCDS: CCDS4857.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.