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GTF2IRD1

GENERAL INFORMATION

Gene name

 GTF2IRD1

Gene description

 GTF2I repeat domain containing 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA044254
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin05101520253035TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin05101520RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina020406080100Tags Per Million

GENE INFORMATION

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

Cytoband

 q11.23

Chromosome location (bp)

 74453790 - 74602604

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000006704 (version 83.38)

Entrez gene

 9569

UniProt

 Q9UHL9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UHL9

Antibodypedia

 GTF2IRD1 antibodies

PROTEIN BROWSER
GTF2IRD1-001
GTF2IRD1-002
GTF2IRD1-003
GTF2IRD1-005
GTF2IRD1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GTF2IRD1-001
ENSP00000265755
ENST00000265755
Q9UHL9 [Direct mapping]
General transcription factor II-I repeat domain-containing protein 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007275 [multicellular organismal development]
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 959 aa
106.1 kDa 		No 0
GTF2IRD1-002
ENSP00000397566
ENST00000455841
Q9UHL9 [Direct mapping]
General transcription factor II-I repeat domain-containing protein 1
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007275 [multicellular organismal development]
GO:0014886 [transition between slow and fast fiber]
Show all
 976 aa
108 kDa 		No 0
GTF2IRD1-003
ENSP00000418383
ENST00000476977
E9PFE2 [Direct mapping]
General transcription factor II-I repeat domain-containing protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
Show all
 960 aa
106 kDa 		No 0
GTF2IRD1-005
ENSP00000408477
ENST00000424337
Q9UHL9 [Direct mapping]
General transcription factor II-I repeat domain-containing protein 1
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007275 [multicellular organismal development]
Show all
 944 aa
104.7 kDa 		No 0
GTF2IRD1-006
ENSP00000417909
ENST00000470715
H7C4Q8 [Direct mapping]
General transcription factor II-I repeat domain-containing protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 275 aa
30.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.