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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.
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组织特异性
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
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疾病相关
Note=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.
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序列相似性
Belongs to the TFII-I family.
Contains 5 GTF2I-like repeats.
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发展阶段
Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.
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结构域
The N-terminal half may have an activating activity.
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细胞定位
Nucleus.
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Information by UniProt
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数据库链接
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别名
- 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
see all