General Transcription Factor II I Repeat Domain-Containing 1 Proteine (GTF2IRD1)

may act as a muscle specific transcription factor\; human homolog may be associated with the Williams-Beuren microdeletion syndrome [RGD, Feb 2006].. Zusätzlich bieten wir Ihnen GTF2IRD1 Antikörper (95) und GTF2IRD1 Kits (3) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
Ratte GTF2IRD1 GTF2IRD1 246770  
GTF2IRD1 57080 Q9JI57
GTF2IRD1 9569 Q9UHL9
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Showing 4 out of 7 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 70 Days
$12,127.90
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 70 Days
$12,127.90
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Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 10 bis 12 Tage
$554.07
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GTF2IRD1 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Mouse (Murine)

Human , ,
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Weitere Proteine zu General Transcription Factor II I Repeat Domain-Containing 1 (GTF2IRD1) Interaktionspartnern

Cow (Bovine) General Transcription Factor II I Repeat Domain-Containing 1 (GTF2IRD1) Interaktionspartner

  1. cGMP-dependent protein kinase (zeige CDK7 Proteine) Ibeta binds to TFII-I (zeige GTF2I Proteine) and IRAG (zeige MRVI1 Proteine) through a common interaction motif

Mouse (Murine) General Transcription Factor II I Repeat Domain-Containing 1 (GTF2IRD1) Interaktionspartner

  1. The mis-regulation of genes downstream of GTF2IRD1, including TbetaR2 and BMPR1b, also individually promoted mammary cancer development, and silencing of TbetaR2 suppressed GTF2IRD1-driven tumor promotion.

  2. the absence of GTF2IRD1 is associated with increased expression of genes involved in cellular proliferation, including growth factors consistent with the observed phenotype of extreme thickening of the epidermis.

  3. Gtf2ird1 is essential for Mkx (zeige MKX Proteine) transcription, while also linking mechanical forces to Mkx (zeige MKX Proteine)-mediated tendon homeostasis and regeneration.

  4. Gtf2ird1 is expressed in a number of cell types within the cochlea. Gtf2ird1 null mice showed higher auditory thresholds.

  5. findings suggest an important role for GTF2IRD1 in regulating the level and topology of rod and cone gene expression, and in maintaining normal retinal function.

  6. GTF2IRD2 (zeige GTF2IRD2 Proteine) has evolved as a regulator of GTF2IRD1 and TFII-I (zeige GTF2I Proteine); inhibiting their function by direct interaction and sequestration into inactive nuclear zones.

  7. This study presented that role for GTF2IRD1 in the motoric and anxiety-related abnormalities seen in Williams-Beuren syndrome, and suggests basal ganglia and potentially cerebellar abnormalities in Gtf2ird1 mice.

  8. Widespread and robust expression of Gtf2ird1 protein in the developing rodent brain, is reported.

  9. Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites.

  10. The presence of different domains in 11 alternatively spliced isoforms of Gtf2ird1 indicates that the activity exerted by this molecule influences multiple promoters active in mouse skeletal muscle.

Human General Transcription Factor II I Repeat Domain-Containing 1 (GTF2IRD1) Interaktionspartner

  1. The mis-regulation of genes downstream of GTF2IRD1, including TbetaR2 and BMPR1b, also individually promoted mammary cancer development, and silencing of TbetaR2 suppressed GTF2IRD1-driven tumor promotion.

  2. Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele.

  3. GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium.

  4. GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 (zeige UBE2I Proteine) and the level of SUMOylation is enhanced by PIASxbeta (zeige PIAS2 Proteine).

  5. CLIP2 (zeige CLIP2 Proteine) haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome; GTF2IRD1 and GTF2I (zeige GTF2I Proteine) are the main genes causing the cognitive defects

  6. This study provided evidences that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany Williams-Beuren syndrome.

  7. functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of Williams-Beuren syndrome

  8. Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites.

  9. characterization and involvement in slow muscle-specific (zeige EIF3K Proteine) gene expression

  10. role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C (zeige MEF2C Proteine) and the nuclear receptor co-repressor

GTF2IRD1 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit GTF2IRD1

  • GTF2I repeat domain containing 1 (GTF2IRD1)
  • GTF2I repeat domain containing 1 (Gtf2ird1)
  • general transcription factor II I repeat domain-containing 1 (Gtf2ird1)
  • GTF2I repeat domain containing 1 (gtf2ird1)
  • general transcription factor II-I repeat domain-containing protein 1 (LOC100461122)
  • GTF2I repeat domain containing 1 S homeolog (gtf2ird1.S)
  • 1700012P16Rik Protein
  • BEN Protein
  • cream1 Protein
  • ESTM9 Protein
  • Gtf2il Protein
  • GTF2IRD1 Protein
  • gtf3 Protein
  • hMusTRD1alpha1 Protein
  • mustrd1 Protein
  • rbap2 Protein
  • Tg(Alb1-Myc)166.8Sst Protein
  • wbs Protein
  • wbscr11 Protein
  • wbscr12 Protein
  • X83320 Protein
  • XBEN Protein
  • XWBSCR11 Protein

Bezeichner auf Proteinebene für GTF2IRD1

general transcription factor II-I repeat domain-containing protein 1 , general transcription factor II I repeat domain-containing 1 , Alb-c-myc line 166.8 , Alb/c-myc line 166.8 , GTF2I repeat domain-containing 1 , GTF2I repeat domain-containing protein 1 , Williams-Beuren syndrome chromosome region 11 , binding factor for early enhancer , c-myc line 166.8 , general transcription factor 3 , muscle TFII-I repeat domain-containing protein 1 , transcription factor GTF3 alpha 2 , transcription factor GTF3 gamma 2 , GTF2I repeat domain containing 1 , USE B1-binding protein , general transcription factor III , muscle TFII-I repeat domain-containing protein 1 alpha 1 , slow-muscle-fiber enhancer-binding protein , williams-Beuren syndrome chromosomal region 12 protein , general transcription factor II-I repeat domain-containing protein 1-like , Binding factor for early enhancer , Williams-Beuren syndrome critical region 11-like protein

GENE ID SPEZIES
507792 Bos taurus
246770 Rattus norvegicus
57080 Mus musculus
463471 Pan troglodytes
489796 Canis lupus familiaris
81597 Danio rerio
417487 Gallus gallus
693935 Macaca mulatta
9569 Homo sapiens
100461122 Pongo abelii
100473117 Ailuropoda melanoleuca
100510956 Sus scrofa
398320 Xenopus laevis
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