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

Synthesized peptide derived from the N-terminal region of Human WBSCR11.

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Isotype

IgG

Purification Method

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration

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

Buffer

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Form

Liquid

Tested Applications

WB, IHC, ELISA

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:100-1:300
ELISA	1:20000

Protocols

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

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