Recombinant Human General transcription factor II-I repeat domain-containing protein 1 (GTF2IRD1 CREAM1 GTF3 MUSTRD1 RBAP2 WBSCR11 WBSCR12)

中文名稱：
貨號：

CSB-YP888303HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：
貨號：

CSB-EP888303HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：
貨號：

CSB-EP888303HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：
貨號：

CSB-BP888303HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：
貨號：

CSB-MP888303HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

GT2D1
Uniprot No.：

Q9UHL9
別名：

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

Homo sapiens (Human)
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
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. PMID: 27239038
2. Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele. PMID: 26320362
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. PMID: 26275350
4. GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta. PMID: 23145142
5. 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
6. 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
7. 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
8. characterization and involvement in slow muscle-specific gene expression PMID: 12475981
9. role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor PMID: 12857748
10. GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning PMID: 12865760
11. human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1. PMID: 15941713
12. GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development PMID: 16293761
13. a regulator of slow fiber-specific genes PMID: 16494860
14. functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I) PMID: 17346708
15. analysis of the consensus binding site for TFII-I family member BEN PMID: 18326499
16. GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction. PMID: 19205026
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相關疾病：

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.
亞細胞定位：

Nucleus.
蛋白家族：

TFII-I family
組織特異性：

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

HGNC: 4661

OMIM: 604318

KEGG: hsa:9569

STRING: 9606.ENSP00000397566

UniGene: Hs.647056