ITPA inosine triphosphatase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITPAprovided by HGNC
Official Full Name: inosine triphosphataseprovided by HGNC
Primary source: HGNC:HGNC:6176
See related: Ensembl:ENSG00000125877 MIM:147520; AllianceGenome:HGNC:6176
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P
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]
Expression: Ubiquitous expression in thyroid (RPKM 6.0), lymph node (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3204065..3227449)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3234474..3258399)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3184711..3208095)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.
Title: Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.
ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease.
Title: ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease.
Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population.
Title: Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population.
Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients.
Title: Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients.
Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients.
Title: Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients.
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Title: Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease.
Title: Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Title: Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.
Title: Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.
Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis.
Title: Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (107)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 35 MedGen: C4225256 OMIM: 616647 GeneReviews: Not available	Compare labs
Inosine triphosphatase deficiency MedGen: C0342800 OMIM: 613850 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. EBI GWAS Catalog EBI GWAS CatalogPubMed
ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	putative interaction based on report showing inhibition of nucleoside triphosphatase by Rev in mouse cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64146 (e-PCR)
- UniSTS:48819

STS-AA026396 (e-PCR)
- UniSTS:83143

RH66161 (e-PCR)
- UniSTS:47564

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-oxo-(d)RTP hydrolase activity	IEA Inferred from Electronic Annotation more info
enables ITP diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables XTP diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables dITP diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleoside triphosphate diphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ITP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in deoxyribonucleoside triphosphate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in nucleoside triphosphate catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: inosine triphosphate pyrophosphatase

Names: epididymis secretory sperm binding protein; inosine triphosphatase (nucleoside triphosphate pyrophosphatase); inosine triphosphate pyrophosphohydrolase; non-canonical purine NTP pyrophosphatase; non-standard purine NTP pyrophosphatase; nucleoside-triphosphate diphosphatase; putative oncogene protein HLC14-06-P

NP_001254552.1

EC 3.6.1.9

NP_001311165.1

EC 3.6.1.9

NP_001311166.1

EC 3.6.1.9

NP_001311167.1

EC 3.6.1.9

NP_001311169.1

EC 3.6.1.9

NP_001338668.1

EC 3.6.1.9

NP_001411337.1

EC 3.6.1.9

NP_001411338.1

EC 3.6.1.9

NP_258412.1

EC 3.6.1.9

NP_852470.1

EC 3.6.1.9

XP_006723628.1

EC 3.6.1.9

XP_011527536.1

EC 3.6.1.9

XP_047296095.1

EC 3.6.1.9

XP_054179382.1

EC 3.6.1.9

XP_054179385.1

EC 3.6.1.9

XP_054179386.1

EC 3.6.1.9

XP_054179387.1

EC 3.6.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012093.2 RefSeqGene

Range

5632..19994

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001267623.2 → NP_001254552.1 inosine triphosphate pyrophosphatase isoform c

See identical proteins and their annotated locations for NP_001254552.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform 1.

Source sequence(s)

AF026816, BI115811, BM560812

Consensus CDS

CCDS58762.1

UniProtKB/TrEMBL

A0A0S2Z423

Related

ENSP00000382732.3, ENST00000399838.3

Conserved Domains (1) summary

cd00515
Location:10 → 147

HAM1; NTPase/HAM1. This family consists of the HAM1 protein and pyrophosphate-releasing xanthosine/ inosine triphosphatase. HAM1 protects the cell against mutagenesis by the base analog 6-N-hydroxylaminopurine (HAP) in E. Coli and S. cerevisiae. A ...
NM_001324236.2 → NP_001311165.1 inosine triphosphate pyrophosphatase isoform d

Status: REVIEWED

Source sequence(s)

AF334680, BE275997, BM560812, BM703982

UniProtKB/TrEMBL

Q8WWI0
NM_001324237.2 → NP_001311166.1 inosine triphosphate pyrophosphatase isoform d

Status: REVIEWED

Source sequence(s)

AL109976, AL121891, BF969192, CA425905

UniProtKB/TrEMBL

Q8WWI0
NM_001324238.2 → NP_001311167.1 inosine triphosphate pyrophosphatase isoform d

Status: REVIEWED

Source sequence(s)

AL109976, AL121891, BF969192, CA425905

UniProtKB/TrEMBL

Q8WWI0
NM_001324240.2 → NP_001311169.1 inosine triphosphate pyrophosphatase isoform e

Status: REVIEWED

Source sequence(s)

AL109976, AL121891, BM560812

Conserved Domains (1) summary

cd00515
Location:10 → 136

HAM1; NTPase/HAM1. This family consists of the HAM1 protein and pyrophosphate-releasing xanthosine/ inosine triphosphatase. HAM1 protects the cell against mutagenesis by the base analog 6-N-hydroxylaminopurine (HAP) in E. Coli and S. cerevisiae. A ...
NM_001351739.2 → NP_001338668.1 inosine triphosphate pyrophosphatase isoform d

Status: REVIEWED

Source sequence(s)

AF334680, AL109976

UniProtKB/TrEMBL

Q8WWI0

Related

ENST00000490838.6
NM_001424408.1 → NP_001411337.1 inosine triphosphate pyrophosphatase isoform f

Status: REVIEWED

Source sequence(s)

AL109976, AL121891
NM_001424409.1 → NP_001411338.1 inosine triphosphate pyrophosphatase isoform g precursor

Status: REVIEWED

Source sequence(s)

AL109976, AL121891
NM_033453.4 → NP_258412.1 inosine triphosphate pyrophosphatase isoform a

See identical proteins and their annotated locations for NP_258412.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AF026816, BM560812

Consensus CDS

CCDS13051.1

UniProtKB/Swiss-Prot

A2A2N2, A4UIM5, B2BCH7, O14878, Q5JWH4, Q9BY32, Q9BYN1, Q9BYX0, Q9H3H8

UniProtKB/TrEMBL

A0A0S2Z3W7

Related

ENSP00000369456.3, ENST00000380113.8

Conserved Domains (1) summary

cd00515
Location:10 → 188

HAM1; NTPase/HAM1. This family consists of the HAM1 protein and pyrophosphate-releasing xanthosine/ inosine triphosphatase. HAM1 protects the cell against mutagenesis by the base analog 6-N-hydroxylaminopurine (HAP) in E. Coli and S. cerevisiae. A ...
NM_181493.4 → NP_852470.1 inosine triphosphate pyrophosphatase isoform b

See identical proteins and their annotated locations for NP_852470.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a.

Source sequence(s)

AF026816, BM560812, EF213026

Consensus CDS

CCDS46576.1

UniProtKB/Swiss-Prot

Q9BY32

Related

ENSP00000413282.1, ENST00000455664.6

Conserved Domains (1) summary

cd00515
Location:8 → 171

HAM1; NTPase/HAM1. This family consists of the HAM1 protein and pyrophosphate-releasing xanthosine/ inosine triphosphatase. HAM1 protects the cell against mutagenesis by the base analog 6-N-hydroxylaminopurine (HAP) in E. Coli and S. cerevisiae. A ...

RNA

NR_052000.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF.

Source sequence(s)

AF026816, AL121891, BF969192

Related

ENST00000483354.5
NR_052002.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF026816, BM560812, BQ049090

Related

ENST00000460550.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

3204065..3227449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440139.1 → XP_047296095.1 inosine triphosphate pyrophosphatase isoform X1
XM_006723565.4 → XP_006723628.1 inosine triphosphate pyrophosphatase isoform X4

Conserved Domains (1) summary

cl00276
Location:10 → 95

Maf_Ham1; Maf_Ham1. Maf, a nucleotide binding protein, has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea. A Ham1-related protein from Methanococcus jannaschii is a novel NTPase that has been shown to hydrolyze nonstandard ...
XM_011529234.3 → XP_011527536.1 inosine triphosphate pyrophosphatase isoform X5

Conserved Domains (1) summary

cd00515
Location:10 → 138

HAM1; NTPase/HAM1. This family consists of the HAM1 protein and pyrophosphate-releasing xanthosine/ inosine triphosphatase. HAM1 protects the cell against mutagenesis by the base analog 6-N-hydroxylaminopurine (HAP) in E. Coli and S. cerevisiae. A ...