Mouse monoclonal antibody Anti-Human GTF2IRD1 | MyBioSource MBS120021 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

Mouse monoclonal antibody Anti-Human GTF2IRD1

catalog :

MBS120021

quantity :

0.1 mg

price :

345 USD

clonality :

monoclonal

host :

mouse

conjugate :

nonconjugated

clone name :

GTF5I102

reactivity :

human

application :

western blot, ELISA, immunocytochemistry, immunoprecipitation, enzyme immunoassay

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS120021

products type :

Antibody

products full name :

Mouse monoclonal antibody Anti-Human GTF2IRD1

products short name :

GTF2IRD1

products name syn :

GTF2I repeat domain containing 1 (GTF2IRD1); GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1

other names :

Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA; General transcription factor II-I repeat domain-containing protein 1; general transcription factor II-I repeat domain-containing protein 1; USE B1-binding protein; Williams-Beuren syndrome chromosome region 11; binding factor for early enhancer; general transcription factor 3; general transcription factor III; muscle TFII-I repeat domain-containing protein 1 alpha 1; slow-muscle-fiber enhancer-binding protein; williams-Beuren syndrome chromosomal region 12 protein; GTF2I repeat domain containing 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

products gene name :

GTF2IRD1

other gene names :

GTF2IRD1; GTF2IRD1; BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1

uniprot entry name :

GT2D1_HUMAN

clonality :

Monoclonal

isotype :

IgG1

clone :

GTF5I102

host :

Mouse

reactivity :

Human

sequence length :

3471

concentration :

100 ug/ml (1.0 ml)

tested application :

ELISA (EIA), Immunocytochemistry (ICC), Immunoprecipitation (IP), Western Blot (WB)

other info1 :

Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.

other info2 :

Sterility: Filtered through a 0.22 um membrane.

products 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 is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. [NCBI Entrez Gene Summary]

ncbi gi num :

312836809

ncbi acc num :

NP_057412.1

ncbi gb acc num :

NM_016328

ncbi mol weight :

107,979 Da

ncbi pathways :

Basal Transcription Factors Pathway (83038); Basal Transcription Factors Pathway (443); Herpes Simplex Infection Pathway (377873); Herpes Simplex Infection Pathway (377865); CGMP-PKG Signaling Pathway (983748); CGMP-PKG Signaling Pathway (985584)

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 summary :

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: transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; transition between slow and fast fiber. Disease: Williams-beuren Syndrome

size1 :

0.1 mg

price1 :

345 USD

more info or order :

MyBioSource product webpage