ID:GT2D1_HUMAN DESCRIPTION: RecName: Full=General transcription factor II-I repeat domain-containing protein 1; Short=GTF2I repeat domain-containing protein 1; AltName: Full=General transcription factor III; AltName: Full=MusTRD1/BEN; AltName: Full=Muscle TFII-I repeat domain-containing protein 1; AltName: Full=Slow-muscle-fiber enhancer-binding protein; AltName: Full=USE B1-binding protein; AltName: Full=Williams-Beuren syndrome chromosomal region 11 protein; AltName: Full=Williams-Beuren syndrome chromosomal region 12 protein; FUNCTION: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). SUBUNIT: Interacts with the retinoblastoma protein (RB1) via its C-terminus. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested. DEVELOPMENTAL STAGE: Highly expressed in developing and regenerating muscles, at the time of myofiber diversification. DOMAIN: The N-terminal half may have an activating activity. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. SIMILARITY: Belongs to the TFII-I family. SIMILARITY: Contains 5 GTF2I-like repeats.
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.
ModBase Predicted Comparative 3D Structure on Q9UHL9
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0005515 protein binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0014886 transition between slow and fast fiber
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
