Human Gene GTF2IRD1 (ENST00000476977.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E9PFE2)
RefSeq Summary (NM_005685): The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].
Gencode Transcript: ENST00000476977.5
Gencode Gene: ENSG00000006704.10
Transcript (Including UTRs)
   Position: hg38 chr7:74,505,992-74,602,591 Size: 96,600 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg38 chr7:74,508,081-74,601,297 Size: 93,217 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:74,505,992-74,602,591)mRNA (may differ from genome)Protein (960 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=General transcription factor II-I repeat domain-containing protein 1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: GTF2IRD1
Diseases sorted by gene-association score: williams-beuren syndrome* (43), chromosomal deletion syndrome (13), tinea cruris (12), cutaneous candidiasis (9), branchiooculofacial syndrome (7), chromosomal disease (5), aortic valve disease 1 (4), aortic valve disease 2 (1)
* = Manually curated disease association

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

+  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 -696.201691-0.412 Picture PostScript Text
3' UTR -456.601294-0.353 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
IPR004212 - GTF2I
IPR016659 - TF_II-I

Pfam Domains:
PF02946 - GTF2I-like repeat

ModBase Predicted Comparative 3D Structure on E9PFE2
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 BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein Sequence     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AF151354 - Homo sapiens general transcription factor 3 (GTF3) mRNA, complete cds.
AY648295 - Homo sapiens GTF2I repeat domain containing protein 1 (GTF2IRD1) mRNA, complete cds.
BC018136 - Homo sapiens GTF2I repeat domain containing 1, mRNA (cDNA clone MGC:9316 IMAGE:3913745), complete cds.
AF156489 - Homo sapiens putative transcription factor (WBSCR12) mRNA, complete cds.
AF118270 - Homo sapiens muscle TFII-I repeat domain-containing protein 1 mRNA, complete cds.
AF104923 - Homo sapiens putative transcription factor (WBSCR11) mRNA, complete cds.
AB209389 - Homo sapiens mRNA for GTF2I repeat domain containing 1 isoform 2 variant protein.
AF089107 - Homo sapiens RBAP2 (RBAP2) mRNA, complete cds.
DQ894354 - Synthetic construct Homo sapiens clone IMAGE:100008814; FLH178822.01L; RZPDo839H07127D GTF2I repeat domain containing 1 (GTF2IRD1) gene, encodes complete protein.
DQ891171 - Synthetic construct clone IMAGE:100003801; FLH178826.01X; RZPDo839H07128D GTF2I repeat domain containing 1 (GTF2IRD1) gene, encodes complete protein.
AB527884 - Synthetic construct DNA, clone: pF1KB0462, Homo sapiens GTF2IRD1 gene for GTF2I repeat domain containing protein 1, without stop codon, in Flexi system.
JD063046 - Sequence 44070 from Patent EP1572962.
CU676200 - Synthetic construct Homo sapiens gateway clone IMAGE:100017511 5' read GTF2IRD1 mRNA.
AK308242 - Homo sapiens cDNA, FLJ98190.
JD446299 - Sequence 427323 from Patent EP1572962.
JD472310 - Sequence 453334 from Patent EP1572962.
JD257046 - Sequence 238070 from Patent EP1572962.
JD294149 - Sequence 275173 from Patent EP1572962.
JD472452 - Sequence 453476 from Patent EP1572962.
JD472451 - Sequence 453475 from Patent EP1572962.
JD199480 - Sequence 180504 from Patent EP1572962.
JD421527 - Sequence 402551 from Patent EP1572962.
JD179121 - Sequence 160145 from Patent EP1572962.
JD452718 - Sequence 433742 from Patent EP1572962.
JD138412 - Sequence 119436 from Patent EP1572962.
JD176445 - Sequence 157469 from Patent EP1572962.
LF319698 - JP 2014500723-A/127201: Polycomb-Associated Non-Coding RNAs.
MA555275 - JP 2018138019-A/127201: Polycomb-Associated Non-Coding RNAs.
JD125526 - Sequence 106550 from Patent EP1572962.
JD374839 - Sequence 355863 from Patent EP1572962.
JD224726 - Sequence 205750 from Patent EP1572962.
JD514794 - Sequence 495818 from Patent EP1572962.
JD172847 - Sequence 153871 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03022 - Basal transcription factors

-  Other Names for This Gene
  Alternate Gene Symbols: AB209389, E9PFE2, E9PFE2_HUMAN, uc003uar.1
UCSC ID: uc003uar.1
RefSeq Accession: NM_005685
Protein: E9PFE2 CCDS: CCDS5571.1, CCDS47613.1

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