Human Gene MDFIC (ENST00000393486.6) from GENCODE V44
  Description: Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA. (from RefSeq NM_199072)
RefSeq Summary (NM_001166345): This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
Gencode Transcript: ENST00000393486.6
Gencode Gene: ENSG00000135272.13
Transcript (Including UTRs)
   Position: hg38 chr7:114,922,094-115,019,917 Size: 97,824 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr7:114,923,034-115,015,935 Size: 92,902 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:114,922,094-115,019,917)mRNA (may differ from genome)Protein (246 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MDFIC_HUMAN
DESCRIPTION: RecName: Full=MyoD family inhibitor domain-containing protein; AltName: Full=I-mfa domain-containing protein; Short=hIC;
FUNCTION: Acts as a transcriptional activator or repressor. Inhibits the transcriptional activation of Zic family proteins ZIC1, ZIC2 and ZIC3. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm. Modulates the expression from both cellular and viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin- beta. Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR. 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.
SUBUNIT: Interacts with HAND1; leading to sequester HAND1 into the nucleolus and prevent its activity. Interacts with ZIC2 (By similarity). The C-terminus interacts with HIV-1 Tat and Rev, AXIN1, the histidine-rich region of CCNT1/cyclin-T and weakly with LEF1.
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus. Note=Also shows a granular distribution in the cytoplasm.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Weak expression in the nucleus.
TISSUE SPECIFICITY: Expressed in lymphoid organs (spleen, thymus, peripheral blood leukocytes) as well as prostate, uterus and small intestine.
DOMAIN: The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation (By similarity). The cysteine-rich C- terminus is involved in its granular distribution in the cytoplasm.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: MDFIC
Diseases sorted by gene-association score: t-cell leukemia (4), hiv-1 (2), follicular mucinosis (2)

-  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: 32.14 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 307.23 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 -338.80650-0.521 Picture PostScript Text
3' UTR -870.103982-0.219 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 Q9P1T7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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:0030332 cyclin binding
GO:0030957 Tat protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007257 activation of JUN kinase activity
GO:0016032 viral process
GO:0030111 regulation of Wnt signaling pathway
GO:0042308 negative regulation of protein import into nucleus
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050434 positive regulation of viral transcription

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF054589 - Homo sapiens HIC protein isoform p40 and HIC protein isoform p32 mRNAs, complete cds.
BC156446 - Synthetic construct Homo sapiens clone IMAGE:100063025, MGC:190667 MyoD family inhibitor domain containing (MDFIC) mRNA, encodes complete protein.
AY196485 - Homo sapiens I-mfa domain-containing protein mRNA, complete cds.
JD075911 - Sequence 56935 from Patent EP1572962.
JD368933 - Sequence 349957 from Patent EP1572962.
JD235475 - Sequence 216499 from Patent EP1572962.
JD181070 - Sequence 162094 from Patent EP1572962.
JD468596 - Sequence 449620 from Patent EP1572962.
JD436431 - Sequence 417455 from Patent EP1572962.
JD214239 - Sequence 195263 from Patent EP1572962.
JD404781 - Sequence 385805 from Patent EP1572962.
JD108922 - Sequence 89946 from Patent EP1572962.
JD495987 - Sequence 477011 from Patent EP1572962.
JD367833 - Sequence 348857 from Patent EP1572962.
JD211646 - Sequence 192670 from Patent EP1572962.
JD494105 - Sequence 475129 from Patent EP1572962.
JD472133 - Sequence 453157 from Patent EP1572962.
JD340099 - Sequence 321123 from Patent EP1572962.
JD340090 - Sequence 321114 from Patent EP1572962.
BC040713 - Homo sapiens cDNA clone IMAGE:6044870.
JD104808 - Sequence 85832 from Patent EP1572962.
JD402457 - Sequence 383481 from Patent EP1572962.
JD478361 - Sequence 459385 from Patent EP1572962.
JD038807 - Sequence 19831 from Patent EP1572962.
JD452396 - Sequence 433420 from Patent EP1572962.
JD100941 - Sequence 81965 from Patent EP1572962.
JD100942 - Sequence 81966 from Patent EP1572962.
JD058043 - Sequence 39067 from Patent EP1572962.
JD498013 - Sequence 479037 from Patent EP1572962.
JD498014 - Sequence 479038 from Patent EP1572962.
JD285284 - Sequence 266308 from Patent EP1572962.
JD362390 - Sequence 343414 from Patent EP1572962.
JD046030 - Sequence 27054 from Patent EP1572962.
JD046029 - Sequence 27053 from Patent EP1572962.
JD498433 - Sequence 479457 from Patent EP1572962.
JD483182 - Sequence 464206 from Patent EP1572962.
JD421242 - Sequence 402266 from Patent EP1572962.
JD556292 - Sequence 537316 from Patent EP1572962.
JD556293 - Sequence 537317 from Patent EP1572962.
JD522247 - Sequence 503271 from Patent EP1572962.
JD319172 - Sequence 300196 from Patent EP1572962.
JD319171 - Sequence 300195 from Patent EP1572962.
JD383344 - Sequence 364368 from Patent EP1572962.
JD104152 - Sequence 85176 from Patent EP1572962.
JD386216 - Sequence 367240 from Patent EP1572962.
JD376820 - Sequence 357844 from Patent EP1572962.
JD259110 - Sequence 240134 from Patent EP1572962.
JD258491 - Sequence 239515 from Patent EP1572962.
JD058531 - Sequence 39555 from Patent EP1572962.
JD410175 - Sequence 391199 from Patent EP1572962.
JD092523 - Sequence 73547 from Patent EP1572962.
JD430262 - Sequence 411286 from Patent EP1572962.
JD557434 - Sequence 538458 from Patent EP1572962.
JD529324 - Sequence 510348 from Patent EP1572962.
JD169516 - Sequence 150540 from Patent EP1572962.
JD169517 - Sequence 150541 from Patent EP1572962.
JD041645 - Sequence 22669 from Patent EP1572962.
JD054990 - Sequence 36014 from Patent EP1572962.
JD391629 - Sequence 372653 from Patent EP1572962.
JD391630 - Sequence 372654 from Patent EP1572962.
JD127717 - Sequence 108741 from Patent EP1572962.
JD069184 - Sequence 50208 from Patent EP1572962.
JD127752 - Sequence 108776 from Patent EP1572962.
JD154874 - Sequence 135898 from Patent EP1572962.
JD529893 - Sequence 510917 from Patent EP1572962.
JD435347 - Sequence 416371 from Patent EP1572962.
JD137275 - Sequence 118299 from Patent EP1572962.
JD083982 - Sequence 65006 from Patent EP1572962.
JD360295 - Sequence 341319 from Patent EP1572962.
JD515312 - Sequence 496336 from Patent EP1572962.
JD215558 - Sequence 196582 from Patent EP1572962.
JD354378 - Sequence 335402 from Patent EP1572962.
JD385349 - Sequence 366373 from Patent EP1572962.
JD167852 - Sequence 148876 from Patent EP1572962.
JD277452 - Sequence 258476 from Patent EP1572962.
JD283950 - Sequence 264974 from Patent EP1572962.
JD465292 - Sequence 446316 from Patent EP1572962.
JD510106 - Sequence 491130 from Patent EP1572962.
JD504626 - Sequence 485650 from Patent EP1572962.
JD098970 - Sequence 79994 from Patent EP1572962.
JD097316 - Sequence 78340 from Patent EP1572962.
JD050606 - Sequence 31630 from Patent EP1572962.
JD162011 - Sequence 143035 from Patent EP1572962.
JD184898 - Sequence 165922 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000393486.1, ENST00000393486.2, ENST00000393486.3, ENST00000393486.4, ENST00000393486.5, MDFIC_HUMAN, NM_199072, Q9P1T6, Q9P1T7, uc064hfm.1, uc064hfm.2
UCSC ID: ENST00000393486.6
RefSeq Accession: NM_001166345
Protein: Q9P1T7 (aka MDFIC_HUMAN)

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