Sign in or Register   Sign in or Register
  |  

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

The product is antibody recognizes GTF2IRD1. The antibody EG1466 immunoassay techniques such as: WB: 1:500~1:1000 ELISA: 1:20000.
See all GTF2IRD1 antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EG1466
Antibody Isotype
IgG
Application
WB: 1:500~1:1000 ELISA: 1:20000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from N-terminal of human GTF2IRD1.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
GTF2I repeat domain containing 1
Introduction
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.
Entrez Gene ID
Human9569
Mouse57080
Rat246770
UniProt ID
HumanQ9UHL9
MouseQ9JI57
RatQ80ST5
Alternative Names
BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
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.

Cummings, C. T., & Starr, L. J. (2023). Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome. American Journal of Medical Genetics Part A, 191(2), 332-337.

Zhuang, H., Zhang, C., & Hou, B. (2020). GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer. Bioscience Reports, 40(9).

Nambara, S., Masuda, T., Kobayashi, Y., Sato, K., Tobo, T., Koike, K., ... & Mimori, K. (2020). GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor‐suppressor gene TGFβR2 in colorectal cancer. Cancer Science, 111(2), 343-355.

Kopp, N. D., Nygaard, K. R., Liu, Y., McCullough, K. B., Maloney, S. E., Gabel, H. W., & Dougherty, J. D. (2020). Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences. Human molecular genetics, 29(9), 1498-1519.

Kopp, N., McCullough, K., Maloney, S. E., & Dougherty, J. D. (2019). Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. Human molecular genetics, 28(20), 3443-3465.

Xie, J. L., Liu, J., Lian, Z. Y., Chen, H. X., Shi, Z. Y., Zhang, Q., ... & Zhou, H. Y. (2019). Association of GTF2IRD1–GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients. Neural Regeneration Research, 14(2), 346.

Kopp, N., McCullough, K., Maloney, S. E., & Dougherty, J. D. (2019). Gtf2i and Gtf2ird1 mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical region. bioRxiv, 558544.

Fan, C. C., Schork, A. J., Brown, T. T., Spencer, B. E., Akshoomoff, N., Chen, C. H., ... & Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative. (2018). Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes. Translational psychiatry, 8(1), 114.

Hasegawa, Y., Ikeda, K., Chen, Y., Alba, D. L., Stifler, D., Shinoda, K., ... & Kajimura, S. (2018). Repression of adipose tissue fibrosis through a PRDM16-GTF2IRD1 complex improves systemic glucose homeostasis. Cell metabolism, 27(1), 180-194.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Rabbit Anti-GTF2IRD1 Recombinant Antibody (EG1466)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare