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

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: human all
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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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neural stem cell-specific ITPA deficiency causes neural depolarization and epilepsy.
Title: Neural stem cell-specific ITPA deficiency causes neural depolarization and epilepsy.
The authors analysed ITPA-deficient human and mouse cells, and revealed that ITPA deficiency induces MLH1/PMS2- and p53-dependent growth arrest and DNA instability in mammalian cells.
Title: Deoxyinosine triphosphate induces MLH1/PMS2- and p53-dependent cell growth arrest and DNA instability in mammalian cells.
The role of ITPase in mice is to exclude ITP from the ATP pool, and the main target substrate of this enzyme is rITP
Title: ITPase-deficient mice show growth retardation and die before weaning.
In the mouse genome, we found one processed Itpa gene-like sequence and two processed Itpa pseudogenes as well as the Itpa gene itself with introns.
Title: Characterization of the structure and expression of mouse Itpa gene and its related sequences in the mouse genome.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136352 (e-PCR)
- UniSTS:210342

UniSTS:234471 (e-PCR)
- UniSTS:234471

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

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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

EC 3.6.1.9

NP_080198.2

EC 3.6.1.9

XP_017171220.1

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.

mRNA and Protein(s)

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

Status: VALIDATED

Source sequence(s)

AK153806, BC026508, BY255189

Conserved Domains (1) summary

pfam01725
Location:15 → 114

Ham1p_like; Ham1 family
NM_025922.3 → NP_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: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 ...

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

130506702..130523534

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8R0Q8, Q9D892

UniProtKB/TrEMBL

Q60I30

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 ...