Canine General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1) ELISA Kit | GTF2IRD1 elisa kit

Canine General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1) ELISA Kit

Cat. Num. AAA9928341

• Gene Names: GTF2IRD1; BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
• Reactivity: Canine
• Synonyms: General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1); Canine General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1) ELISA Kit; GTF2IRD1 elisa kit

• Reactivity: Canine
• Sequence Length: 959

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 7705387
• NCBI GeneID: 9569
• NCBI GenBank Nucleotide #: NP_057412.1
• UniProt Accession #: Q9UHL9
• NCBI Official Full Name: general transcription factor II-I repeat domain-containing protein 1 isoform 1
• NCBI Official 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
• Protein Family: General transcription factor II-I repeat domain-containing protein
• UniProt Gene Name: GTF2IRD1
• UniProt Synonym Gene Names: CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; GTF2I repeat domain-containing protein 1
• UniProt Entry Name: GT2D1_HUMAN

NCBI Description

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 Description

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.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; DNA binding; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; transition between slow and fast fiber

Disease: Williams-beuren Syndrome