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

This product is antibody recognizes GTF2IRD1. The antibody CBLG1-276 immunoassay techniques such as: ELISA, WB.
See all GTF2IRD1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBLG1-276
Antibody Isotype
IgG2b
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
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
Preservative
0.09% sodium azide
Purity
> 95% Purity determined by SDS-PAGE.
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. [provided by RefSeq, Nov 2010]
Entrez Gene ID
9569
UniProt ID
Q9UHL9
Alternative Names
GTF2I Repeat Domain Containing 1; Williams-Beuren Syndrome Chromosomal Region 12 Protein; Slow-Muscle-Fiber Enhancer-Binding Protein; Binding Factor For Early Enhancer; General Transcription Factor IIi; USE B1-Binding Protein; WBSCR11; MUSTRD1; WBSCR12; CREAM1; RBAP2; GTF3; General Transcription Factor II-I Repeat Domain-Containing Protein 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.

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.

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For research use only. Not intended for any clinical use.

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