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ITPA inosine triphosphatase [ Homo sapiens (human) ]

Gene ID: 3704, updated on 7-Dec-2018

Summary

Official Symbol
ITPAprovided by HGNC
Official Full Name
inosine triphosphataseprovided by HGNC
Primary source
HGNC:HGNC:6176
See related
Ensembl:ENSG00000125877 MIM:147520
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
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

Genomic context

See ITPA in Genome Data Viewer
Location:
20p13
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (3208868..3227449)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3189514..3204516)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985414 Neighboring gene DDRGK domain containing 1 Neighboring gene solute carrier family 4 member 11 Neighboring gene chromosome 20 open reading frame 194 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene RNA, U6 small nuclear 1019, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 35
MedGen: C4225256 OMIM: 616647 GeneReviews: Not available
Compare labs
Inosine triphosphatase deficiency
MedGen: C0342800 OMIM: 613850 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ITP diphosphatase activity EXP
Inferred from Experiment
more info
PubMed 
NADH pyrophosphatase activity IEA
Inferred from Electronic Annotation
more info
 
XTP diphosphatase activity EXP
Inferred from Experiment
more info
PubMed 
dITP diphosphatase activity EXP
Inferred from Experiment
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleoside-triphosphate diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ITP catabolic process IEA
Inferred from Electronic Annotation
more info
 
chromosome organization IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleoside triphosphate catabolic process IEA
Inferred from Electronic Annotation
more info
 
nucleoside triphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
purine nucleotide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
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_258412.1
NP_852470.1
XP_006723627.1
XP_006723628.1
XP_011527536.1
XP_024307648.1

NCBI Reference Sequences (RefSeq)

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
    5494..20004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001267623.1NP_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, CA425905
    Consensus CDS
    CCDS58762.1
    UniProtKB/Swiss-Prot
    Q9BY32
    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_001324236.1NP_001311165.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AF334680, BE275997, BM560812, BM703982, CA425905
    UniProtKB/TrEMBL
    Q8WWI0
  3. NM_001324237.1NP_001311166.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL109976, AL121891, BF969192, CA425905
    UniProtKB/TrEMBL
    Q8WWI0
  5. NM_001324240.1NP_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_001351739.1NP_001338668.1  inosine triphosphate pyrophosphatase isoform d

    Status: REVIEWED

    Source sequence(s)
    AF334680, AL109976, BM560812, CA425905
  7. 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
    Q9BY32
    UniProtKB/TrEMBL
    A0A0S2Z3W7
    Related
    ENSP00000369456.3, ENST00000380113.7
    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 ...
  8. NM_181493.3NP_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, CA425905, 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_052000.1 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, BF969192, CA425905
    Related
    ENST00000483354.5
  2. NR_052002.1 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, CA425905
    Related
    ENST00000460550.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    3208868..3227449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723564.3XP_006723627.1  inosine triphosphate pyrophosphatase isoform X1

    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 ...
  2. XM_024451880.1XP_024307648.1  inosine triphosphate pyrophosphatase isoform X4

  3. XM_006723565.3XP_006723628.1  inosine triphosphate pyrophosphatase isoform X2

    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 ...
  4. XM_011529234.2XP_011527536.1  inosine triphosphate pyrophosphatase isoform X3

    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 ...
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