GTF2IRD1 Antibody, Biotin conjugated (PACO55333)
- SKU:
- PACO55333
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
抗体名: | GTF2IRD1 Antibody, Biotin conjugated (PACO55333) |
抗体コード: | PACO55333 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human General transcription factor II-I repeat domain-containing protein 1 protein (436-560AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
バックグラウンド: | 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). |
シノニム: | 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 |
UniProt Protein Function: | GTF2IRD1: 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. 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. Belongs to the TFII-I family. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:DNA-binding Chromosomal Location of Human Ortholog: 7q11.23 Cellular Component: cytoplasm; nucleoplasm; nucleus Molecular Function:DNA binding; RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity Biological Process: multicellular organismal development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent; transition between slow and fast fiber Disease: Williams-beuren Syndrome |
NCBI Summary: | 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] |
UniProt Code: | Q9UHL9 |
NCBI GenInfo Identifier: | 21263630 |
NCBI Gene ID: | 9569 |
NCBI Accession: | Q9UHL9.1 |
UniProt Secondary Accession: | Q9UHL9,O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8 Q9UI91, |
UniProt Related Accession: | Q9UHL9 |
Molecular Weight: | 107,979 Da |
NCBI Full Name: | General transcription factor II-I repeat domain-containing protein 1 |
NCBI Synonym Full Names: | GTF2I repeat domain containing 1 |
NCBI Official Symbol: | GTF2IRD1 |
NCBI Official Synonym Symbols: | BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1 |
NCBI Protein Information: | general transcription factor II-I repeat domain-containing protein 1 |
UniProt Protein Name: | General transcription factor II-I repeat domain-containing protein 1 |
UniProt Synonym Protein Names: | 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 |
Protein Family: | General transcription factor II-I repeat domain-containing protein |
UniProt Gene Name: | GTF2IRD1 |
UniProt Entry Name: | GT2D1_HUMAN |