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ITPA inosine triphosphatase [ Homo sapiens (human) ]

Gene ID: 3704, updated on 4-Jan-2025

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
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Genomic context

See ITPA in Genome Data Viewer
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_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12614 Neighboring gene uncharacterized LOC107985414 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:3163335-3163502 Neighboring gene leucine zipper tumor suppressor family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3183418-3184016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3189739-3190387 Neighboring gene DDRGK domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3210499-3211281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12617 Neighboring gene solute carrier family 4 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3228779-3229524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3229525-3230269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3230929-3231429 Neighboring gene dynein axonemal assembly factor 9 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3276431-3276932 Neighboring gene RNA, U6 small nuclear 1019, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 8-oxo-(d)RTP hydrolase activity  
enables ITP diphosphatase activity  
enables XTP diphosphatase activity  
enables dITP diphosphatase activity  
enables identical protein binding PubMed 
enables metal ion binding  
enables nucleoside triphosphate diphosphatase activity  
enables nucleotide binding  
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in cytosol  
located_in intracellular membrane-bounded organelle  
located_in nucleoplasm  

General protein information

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
NP_001311165.1
NP_001311166.1
NP_001311167.1
NP_001311169.1
NP_001338668.1
NP_001411337.1
NP_001411338.1
NP_258412.1
NP_852470.1
XP_006723628.1
XP_011527536.1
XP_047296095.1
XP_054179382.1
XP_054179385.1
XP_054179386.1
XP_054179387.1

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

  1. NG_012093.2 RefSeqGene

    Range
    5632..19994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001267623.2NP_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:10147
    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 ...
  2. NM_001324236.2NP_001311165.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AF334680, BE275997, BM560812, BM703982
    UniProtKB/TrEMBL
    Q8WWI0
  3. NM_001324237.2NP_001311166.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891, BF969192, CA425905
    UniProtKB/TrEMBL
    Q8WWI0
  4. NM_001324238.2NP_001311167.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891, BF969192, CA425905
    UniProtKB/TrEMBL
    Q8WWI0
  5. NM_001324240.2NP_001311169.1  inosine triphosphate pyrophosphatase isoform e

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891, BM560812
    Conserved Domains (1) summary
    cd00515
    Location:10136
    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 ...
  6. NM_001351739.2NP_001338668.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AF334680, AL109976
    UniProtKB/TrEMBL
    Q8WWI0
    Related
    ENST00000490838.6
  7. NM_001424408.1NP_001411337.1  inosine triphosphate pyrophosphatase isoform f

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891
  8. NM_001424409.1NP_001411338.1  inosine triphosphate pyrophosphatase isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891
  9. NM_033453.4NP_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:10188
    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 ...
  10. NM_181493.4NP_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:8171
    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

  1. 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
  2. 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

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    3204065..3227449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440139.1XP_047296095.1  inosine triphosphate pyrophosphatase isoform X1

  2. XM_006723565.4XP_006723628.1  inosine triphosphate pyrophosphatase isoform X4

    Conserved Domains (1) summary
    cl00276
    Location:1095
    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 ...
  3. XM_011529234.3XP_011527536.1  inosine triphosphate pyrophosphatase isoform X5

    Conserved Domains (1) summary
    cd00515
    Location:10138
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3234474..3258399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323410.1XP_054179385.1  inosine triphosphate pyrophosphatase isoform X3

  2. XM_054323407.1XP_054179382.1  inosine triphosphate pyrophosphatase isoform X1

  3. XM_054323411.1XP_054179386.1  inosine triphosphate pyrophosphatase isoform X4

  4. XM_054323412.1XP_054179387.1  inosine triphosphate pyrophosphatase isoform X5

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