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WBSCR11 rabbit pAb

CAT: 0855-ES3703-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES3703-01Size:50 µL
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Background
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]
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
Q9UHL9
Swiss Prot
Q9UHL9
Reactivity
Human; Mouse; Rat
Immunogen
The antiserum was produced against synthesized peptide derived from human GTF2IRD1. AA range:71-120
Clonality
Polyclonal
Source
Rabbit
Applications
WB; IHC; IF; ELISA
Concentration
1 mg/ml
Dilution
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/20000. Not yet tested in other applications.
Molecular Weight
106kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
106kD
Fragment
IgG
Subcellular Location
Nucleus.
Other Product Names
GTF2IRD1; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; 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 do
Gene ID (Human)
9569

UniProtKB · Q9UHL9

General transcription factor II-I repeat domain-containing protein 1

GT2D1_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
Q9UHL9
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
GTF2IRD1
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
GTF2I repeat domain-containing protein 1
EC number
—
Processing
—
Secondary accessions
O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Coding sequence diversity

Alternative splicing

Molecular function

Developmental proteinDNA-binding

PTM

Isopeptide bondPhosphoproteinUbl conjugation

Cellular component

Nucleus

Domain

Repeat

Biological process

TranscriptionTranscription regulation

Disease

Williams-Beuren syndrome

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