GTF2IRD1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA044254
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q11.23

Chromosome location (bp)

74453790 - 74602604

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000006704 (version 78.38)

Entrez gene

9569

UniProt

Q9UHL9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHL9

Antibodypedia

GTF2IRD1 antibodies


PROTEIN BROWSER

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ENST00000265755
 
ENST00000424337
 
ENST00000455841
 
ENST00000470715
 
ENST00000476977
 
 
 
 


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