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    ITPA inosine triphosphatase [ Homo sapiens (human) ]

    Gene ID: 3704, updated on 17-Sep-2024

    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
    NEW
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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: 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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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

    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)

    NEW Try the new Transcript table

    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