Rabbit Anti-GTF2IRD1 antibody

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CREAM1; General transcription factor II I repeat domain containing protein 1; General transcription factor II-I repeat domain-containing protein 1; General transcription factor III; GT2D1_HUMAN; GTF2I repeat domain containing protein 1; GTF2I repeat

Cat:

SL16354R

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human GTF2IRD1:801-900/959

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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]

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.

Subcellular Location:
Nucleus.

Tissue Specificity:
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

DISEASE:
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.

Similarity:
Belongs to the TFII-I family.
Contains 5 GTF2I-like repeats.

SWISS:
Q9UHL9

Gene ID:
9569

Database links:

Entrez Gene: 9569 Human

Entrez Gene: 57080 Mouse

Entrez Gene: 246770 Rat

Omim: 604318 Human

SwissProt: Q9UHL9 Human

SwissProt: Q9JI57 Mouse

Unigene: 647056 Human

Unigene: 332735 Mouse

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