GTF2IRD1

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.
Full Name
GTF2I repeat domain containing 1
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).
Biological Process
Negative regulation of transcription by RNA polymerase II Source: ARUK-UCL
Regulation of transcription, DNA-templated Source: UniProtKB
Transcription by RNA polymerase II Source: InterPro
Transition between slow and fast fiber Source: Ensembl
Cellular Location
Nucleus
Involvement in disease
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.
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Anti-GTF2IRD1 antibodies

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Mouse Anti-GTF2IRD1 Recombinant Antibody (CBLG1-2128) (CBMAB-G5731-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBLG1-2128
Application*: E, IC, IP, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (CBLG1-2127) (CBMAB-G5730-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBLG1-2127
Application*: E, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (CBLG1-2126) (CBMAB-G5729-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBLG1-2126
Application*: E, IC, IP, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (CBLG1-2125) (CBMAB-G5728-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBLG1-2125
Application*: SE, E, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (8C165) (CBMAB-G5727-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 8C165
Application*: E, IC, IP, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (CBLG1-276) (CBMAB-G0927-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBLG1-276
Application*: E, WB
Datasheet SDS

Mouse Anti-GTF2IRD1 Recombinant Antibody (GTF5I102) (CBMAB-G0926-LY)

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Target: GTF2IRD1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: GTF5I102
Application*: E, IC, IP, WB
Datasheet SDS

Rabbit Anti-GTF2IRD1 Recombinant Antibody (EG1466) (CBMAB-EN1752-LY)

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Target: GTF2IRD1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: EG1466
Application*: WB: 1:500~1:1000 ELISA: 1:20000
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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