GTF2IRD1

GENE INFORMATION

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Gene name

GTF2IRD1 (HGNC Symbol)

Synonyms

BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12

Description

GTF2I repeat domain containing 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

7 (Chromosome progress)

Cytoband

q11.23

Chromosome location (bp)

73868120 - 74016931

Ensembl

ENSG00000006704 (version 73.37)

Entrez gene

9569

UniProt

Q9UHL9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHL9

Antibodypedia

GTF2IRD1 antibodies
 

PROTEIN VIEW

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GTF2IRD1-001
 
GTF2IRD1-002
 
GTF2IRD1-003
 
GTF2IRD1-005
 
GTF2IRD1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GTF2IRD1-001 ENSP00000265755
ENST00000265755
Q9UHL9
Show all »
Show » 959 106.1 No 0
GTF2IRD1-002 ENSP00000397566
ENST00000455841
Q9UHL9
Show all »
Show » 976 108 No 0
GTF2IRD1-003 ENSP00000418383
ENST00000476977
E9PFE2
Show all »
Show » 960 106 No 0
GTF2IRD1-005 ENSP00000408477
ENST00000424337
Q9UHL9
Show all »
Show » 944 104.7 No 0
GTF2IRD1-006 ENSP00000417909
ENST00000470715
275 30.8 No 0