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Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) [ Mus musculus (house mouse) ]

Gene ID: 16434, updated on 11-Apr-2024

Summary

Official Symbol
Itpaprovided by MGI
Official Full Name
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)provided by MGI
Primary source
MGI:MGI:96622
See related
Ensembl:ENSMUSG00000074797 AllianceGenome:MGI:96622
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Itp; ITPase; NTPase; 2010016I08Rik
Summary
Enables dITP diphosphatase activity. Acts upstream of or within ITP catabolic process and chromosome organization. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); developmental and epileptic encephalopathy 35; hepatitis C; rheumatoid arthritis; and thrombocytopenia. Orthologous to human ITPA (inosine triphosphatase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 19.9), CNS E18 (RPKM 18.7) and 28 other tissues See more
Orthologs
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Genomic context

Location:
2 F1; 2 63.24 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (130506702..130523534)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (130664692..130681614)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:130461487-130461688 Neighboring gene leucine zipper, putative tumor suppressor family member 3 Neighboring gene STARR-positive B cell enhancer ABC_E10144 Neighboring gene DDRGK domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_05692 Neighboring gene solute carrier family 4, sodium bicarbonate transporter-like, member 11 Neighboring gene STARR-seq mESC enhancer starr_05693 Neighboring gene dynein axonemal assembly factor 9 Neighboring gene chaperonin containing Tcp1, subunit 3 (gamma) pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dITP diphosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
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 nucleoside triphosphate diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within ITP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleoside triphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within nucleotide metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
inosine triphosphate pyrophosphatase
Names
non-canonical purine NTP pyrophosphatase
non-standard purine NTP pyrophosphatase
nucleoside triphosphate pyrophosphatase
nucleoside-triphosphate diphosphatase
NP_001349577.1
NP_080198.2
XP_017171220.1

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.

mRNA and Protein(s)

  1. NM_001362648.1NP_001349577.1  inosine triphosphate pyrophosphatase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK153806, BC026508, BY255189
    Conserved Domains (1) summary
    pfam01725
    Location:15114
    Ham1p_like; Ham1 family
  2. NM_025922.3NP_080198.2  inosine triphosphate pyrophosphatase isoform 1

    See identical proteins and their annotated locations for NP_080198.2

    Status: VALIDATED

    Source sequence(s)
    AK153806, BC026508
    Consensus CDS
    CCDS16748.1
    UniProtKB/Swiss-Prot
    Q8R0Q8, Q9D892
    UniProtKB/TrEMBL
    Q60I30
    Related
    ENSMUSP00000099482.5, ENSMUST00000103193.5
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    130506702..130523534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017315731.3XP_017171220.1  inosine triphosphate pyrophosphatase isoform X1

    UniProtKB/Swiss-Prot
    Q8R0Q8, Q9D892
    UniProtKB/TrEMBL
    Q60I30
    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 ...