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ITPA

GENERAL INFORMATION

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

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

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA022824
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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

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 3704

UniProt

 Q9BY32 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BY32

Antibodypedia

 ITPA antibodies

PROTEIN BROWSER
ITPA-002
ITPA-007
ITPA-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ITPA-002
ENSP00000369456
ENST00000380113
Q9BY32 [Direct mapping]
Inosine triphosphate pyrophosphatase
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006193 [ITP catabolic process]
GO:0009204 [deoxyribonucleoside triphosphate catabolic process]
GO:0016787 [hydrolase activity]
GO:0035870 [dITP diphosphatase activity]
GO:0036220 [ITP diphosphatase activity]
GO:0036222 [XTP diphosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0047429 [nucleoside-triphosphate diphosphatase activity]
GO:0051276 [chromosome organization]
GO:0055086 [nucleobase-containing small molecule metabolic process]
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 194 aa
21.4 kDa 		No 0
ITPA-007
ENSP00000382732
ENST00000399838
Q9BY32 [Direct mapping]
Inosine triphosphate pyrophosphatase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0009204 [deoxyribonucleoside triphosphate catabolic process]
GO:0016787 [hydrolase activity]
GO:0035870 [dITP diphosphatase activity]
GO:0036220 [ITP diphosphatase activity]
GO:0036222 [XTP diphosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055086 [nucleobase-containing small molecule metabolic process]
Show all
 153 aa
16.8 kDa 		No 0
ITPA-009
ENSP00000413282
ENST00000455664
Q9BY32 [Direct mapping]
Inosine triphosphate pyrophosphatase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0009204 [deoxyribonucleoside triphosphate catabolic process]
GO:0016787 [hydrolase activity]
GO:0035870 [dITP diphosphatase activity]
GO:0036220 [ITP diphosphatase activity]
GO:0036222 [XTP diphosphatase activity]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055086 [nucleobase-containing small molecule metabolic process]
Show all
 177 aa
19.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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