Product Details

Uniprot No.

Target Names

GTF2IRD1

Alternative Names

CREAM1 antibody; General transcription factor II I repeat domain containing protein 1 antibody; General transcription factor II-I repeat domain-containing protein 1 antibody; General transcription factor III antibody; GT2D1_HUMAN antibody; GTF2I repeat domain containing protein 1 antibody; GTF2I repeat domain-containing protein 1 antibody; GTF2IRD1 antibody; GTF3 antibody; Muscle TFII I repeat domain-containing protein 1 antibody; Muscle TFII-I repeat domain-containing protein 1 antibody; MUSTRD1 antibody; MusTRD1/BEN antibody; RBAP2 antibody; Slow muscle fiber enhancer binding protein antibody; Slow-muscle-fiber enhancer-binding protein antibody; USE B1 binding protein antibody; USE B1-binding protein antibody; WBSCR11 antibody; WBSCR12 antibody; Williams Beuren syndrome chromosome region 11 protein antibody; Williams-Beuren syndrome chromosomal region 11 protein antibody; Williams-Beuren syndrome chromosomal region 12 protein antibody

Raised in

Rabbit

Species Reactivity

Human,Mouse,Rat

Immunogen

Human GTF2IRD1

Immunogen Species

Homo sapiens (Human)

Isotype

IgG

Purification Method

Antigen Affinity purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.

Tested Applications

ELISA,WB,IHC

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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.

Gene References into Functions

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. PMID: 27239038
Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele. PMID: 26320362
GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium. PMID: 26275350
GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta. PMID: 23145142
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. PMID: 22198572
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 PMID: 19897463
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. PMID: 20007321
characterization and involvement in slow muscle-specific gene expression PMID: 12475981
role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor PMID: 12857748
GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning PMID: 12865760
human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1. PMID: 15941713
GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development PMID: 16293761
a regulator of slow fiber-specific genes PMID: 16494860
functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I) PMID: 17346708
analysis of the consensus binding site for TFII-I family member BEN PMID: 18326499
GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction. PMID: 19205026

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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.

Subcellular Location

Nucleus.

Protein Families

TFII-I family

Tissue Specificity

Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

Database Links

HGNC: 4661

OMIM: 604318

KEGG: hsa:9569

STRING: 9606.ENSP00000397566

UniGene: Hs.647056