≡

GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1)

[Edit]

WBS; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; General Transcription Factor II-I Repeat Domain Containing 1; Binding Factor For Early Enhancer

GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1)
CCC L573
HGNC 4661
MGI 1861942
PubMed 16293761
RGD 620856
UniProt Q9UHL9
Wiki GTF2IRD1
GTF2IRD1 contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.
GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development. Gtf2ird1-null mice exhibited phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome; craniofacial imaging revealed abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1) ELISA Kit Customized Service Offer
  1. "Identification of a novel slow-muscle-fiber enhancer binding protein, MUSTRD1."Mol. Cell. Biol. 18:6641-6652(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome."Genomics 57:279-284(1999) [PubMed] [Europe PMC] [Abstract]
  3. "A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome."Eur. J. Hum. Genet. 7:737-747(1999) [PubMed] [Europe PMC] [Abstract]
  4. "Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23."Cytogenet. Cell Genet. 86:296-304(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I."Biochem. J. 345:749-757(2000) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Repression of TFII-I-dependent transcription by nuclear exclusion."Proc. Natl. Acad. Sci. U.S.A. 98:7789-7794(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  10. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  11. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Solution structure of RSGI RUH-048 and RUH-057, a GTF2I domain in human."Submitted (MAR-2007) to the PDB data bank