ITPA

GENERAL INFORMATION

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Gene name

ITPA

Gene description

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA022824
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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

Heart 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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ITPA (HGNC Symbol)

Synonyms

C20orf37, dJ794I6.3, HLC14-06-P

Description

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (HGNC Symbol)

Entrez gene summary

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Chromosome

20

Cytoband

p13

Chromosome location (bp)

3208868 - 3223870

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125877 (version 78.38)

Entrez gene

3704

UniProt

Q9BY32 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BY32

Antibodypedia

ITPA antibodies


PROTEIN BROWSER

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ENST00000380113
 
ENST00000399838
 
ENST00000455664
 
 
 
 


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)

ITPA-002 ENSP00000369456
ENST00000380113
Q9BY32
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Show » Show » 194 21.4 No 0
ITPA-007 ENSP00000382732
ENST00000399838
Q9BY32
Show all »
Show » Show » 153 16.8 No 0
ITPA-009 ENSP00000413282
ENST00000455664
Q9BY32
Show all »
Show » Show » 177 19.6 No 0