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Aliases for ITPA Gene

Aliases for ITPA Gene

  • Inosine Triphosphatase 2 3 4 5
  • Nucleoside-Triphosphate Diphosphatase 2 3 4
  • Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase) 2 3
  • Non-Canonical Purine NTP Pyrophosphatase 3 4
  • Non-Standard Purine NTP Pyrophosphatase 3 4
  • EC 3.6.1.19 4 63
  • C20orf37 3 4
  • ITPase 3 4
  • NTPase 3 4
  • Inosine Triphosphate Pyrophosphohydrolase 3
  • Nucleoside-Triphosphate Pyrophosphatase 4
  • Putative Oncogene Protein HLC14-06-P 3
  • Putative Oncogene Protein Hlc14-06-P 4
  • HLC14-06-P 3
  • DJ794I6.3 3
  • EC 3.6.1 63
  • My049 3

External Ids for ITPA Gene

Previous HGNC Symbols for ITPA Gene

  • C20orf37

Previous GeneCards Identifiers for ITPA Gene

  • GC20P003178
  • GC20P003185
  • GC20P003138

Summaries for ITPA Gene

Entrez Gene Summary for ITPA Gene

  • 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]

GeneCards Summary for ITPA Gene

ITPA (Inosine Triphosphatase) is a Protein Coding gene. Diseases associated with ITPA include woodhouse-sakati syndrome and inosine triphosphate pyrophosphohydrolase deficiency. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include nucleotide binding and nucleoside-triphosphate diphosphatase activity.

UniProtKB/Swiss-Prot for ITPA Gene

  • Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.

Gene Wiki entry for ITPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPA Gene

Genomics for ITPA Gene

Regulatory Elements for ITPA Gene

Promoters for ITPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITPA on UCSC Golden Path with GeneCards custom track

Genomic Location for ITPA Gene

Chromosome:
20
Start:
3,208,868 bp from pter
End:
3,227,449 bp from pter
Size:
18,582 bases
Orientation:
Plus strand

Genomic View for ITPA Gene

Genes around ITPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPA Gene

Proteins for ITPA Gene

  • Protein details for ITPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY32-ITPA_HUMAN
    Recommended name:
    Inosine triphosphate pyrophosphatase
    Protein Accession:
    Q9BY32
    Secondary Accessions:
    • A2A2N2
    • A4UIM5
    • B2BCH7
    • O14878
    • Q5JWH4
    • Q9BYN1
    • Q9BYX0
    • Q9H3H8

    Protein attributes for ITPA Gene

    Size:
    194 amino acids
    Molecular mass:
    21446 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ITPA Gene

    Alternative splice isoforms for ITPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITPA Gene

Proteomics data for ITPA Gene at MOPED

Selected DME Specific Peptides for ITPA Gene

Post-translational modifications for ITPA Gene

  • Ubiquitination at Lys 9 and Lys 96
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ITPA Gene

Protein Domains for ITPA Gene

Suggested Antigen Peptide Sequences for ITPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BY32

UniProtKB/Swiss-Prot:

ITPA_HUMAN :
  • Belongs to the HAM1 NTPase family.
Family:
  • Belongs to the HAM1 NTPase family.
genes like me logo Genes that share domains with ITPA: view

No data available for Gene Families for ITPA Gene

Function for ITPA Gene

Molecular function for ITPA Gene

GENATLAS Biochemistry:
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.51 mM for ITP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; KM=0.31 mM for dITP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; KM=0.57 mM for XTP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; KM=40.7 uM for dHAPTP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; KM=933 uM for dGTP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; Vmax=1520 umol/min/mg enzyme for ITP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; Vmax=940 umol/min/mg enzyme for dITP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; Vmax=1680 umol/min/mg enzyme for XTP {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528}; Note=Vmax values are similar for dITP, dHAPTP and dGTP.; pH dependence: Optimum pH is 10. {ECO:0000269 PubMed:11278832, ECO:0000269 PubMed:17090528};
UniProtKB/Swiss-Prot CatalyticActivity:
A nucleoside triphosphate + H(2)O = a nucleotide + diphosphate.
UniProtKB/Swiss-Prot Function:
Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.

Enzyme Numbers (IUBMB) for ITPA Gene

Gene Ontology (GO) - Molecular Function for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036220 ITP diphosphatase activity EXP 11278832
GO:0036222 XTP diphosphatase activity EXP 11278832
GO:0047429 nucleoside-triphosphate diphosphatase activity IEA --
genes like me logo Genes that share ontologies with ITPA: view
genes like me logo Genes that share phenotypes with ITPA: view

Animal Models for ITPA Gene

MGI Knock Outs for ITPA:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITPA Gene

Localization for ITPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITPA Gene COMPARTMENTS Subcellular localization image for ITPA gene
Compartment Confidence
cytosol 5
extracellular 2
mitochondrion 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ITPA Gene

Pathways & Interactions for ITPA Gene

genes like me logo Genes that share pathways with ITPA: view

Pathways by source for ITPA Gene

2 Reactome pathways for ITPA Gene
1 GeneGo (Thomson Reuters) pathway for ITPA Gene

Gene Ontology (GO) - Biological Process for ITPA Gene

None

No data available for SIGNOR curated interactions for ITPA Gene

Drugs & Compounds for ITPA Gene

(27) Drugs for ITPA Gene - From: Novoseek, HMDB, PharmGKB, ClinicalTrials, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azathioprine Approved Pharma 153
Interferon Alfa-2b, Recombinant Approved Pharma 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1444
Peginterferon alfa-2a Approved, Investigational Pharma 537
Peginterferon alfa-2b Approved Pharma 299

(20) Additional Compounds for ITPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
132-06-9
xanthosine 5-triphosphate
  • 5'-XTP
  • Xanthosine 5'-triphosphate
  • Xanthosine mono(tetrahydrogen triphosphate)
  • Xanthosine triphosphate
  • XTP
6253-56-1
2'-Deoxyinosine triphosphate
  • 2'-Deoxy-Inosine 5'-(tetrahydrogen triphosphate)
  • 2'-Deoxyinosine-5'-triphosphate
  • 2'-Ditp
  • Deoxyinosine 5'-triphosphate
  • Deoxyinosine triphosphate
16595-02-1
6-Mercaptopurine ribonucleoside triphosphate
6-Thioinosine-5'-monophosphate
genes like me logo Genes that share compounds with ITPA: view

Transcripts for ITPA Gene

mRNA/cDNA for ITPA Gene

Unigene Clusters for ITPA Gene

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITPA Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - - - - - - - -
SP8: - - - -
SP9:

Relevant External Links for ITPA Gene

GeneLoc Exon Structure for
ITPA
ECgene alternative splicing isoforms for
ITPA

Expression for ITPA Gene

mRNA expression in normal human tissues for ITPA Gene

Protein differential expression in normal tissues from HIPED for ITPA Gene

This gene is overexpressed in Oral epithelium (7.6) and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITPA Gene



SOURCE GeneReport for Unigene cluster for ITPA Gene Hs.415299

mRNA Expression by UniProt/SwissProt for ITPA Gene

Q9BY32-ITPA_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
genes like me logo Genes that share expression patterns with ITPA: view

Protein tissue co-expression partners for ITPA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ITPA Gene

Orthologs for ITPA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ITPA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITPA 35
  • 87.91 (n)
  • 91.19 (a)
ITPA 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPA 35
  • 90.1 (n)
  • 93.75 (a)
ITPA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpa 35
  • 85.66 (n)
  • 90.67 (a)
Itpa 16
Itpa 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITPA 35
  • 99.66 (n)
  • 99.48 (a)
ITPA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpa 35
  • 85.79 (n)
  • 92.11 (a)
oppossum
(Monodelphis domestica)
Mammalia ITPA 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPA 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITPA 35
  • 74.87 (n)
  • 78.07 (a)
ITPA 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPA 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpa 35
  • 69.88 (n)
  • 77.54 (a)
Str.5830 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10054 35
zebrafish
(Danio rerio)
Actinopterygii itpa 35
  • 68.12 (n)
  • 74.86 (a)
itpa 36
  • 67 (a)
OneToMany
ITPA (2 of 2) 36
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6320 35
fruit fly
(Drosophila melanogaster)
Insecta CG8891 37
  • 66 (a)
CG8891 35
  • 66.3 (n)
  • 67.21 (a)
CG8891 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008374 35
  • 63.24 (n)
  • 68.11 (a)
worm
(Caenorhabditis elegans)
Secernentea hap-1 37
  • 61 (a)
hap-1 35
  • 58.24 (n)
  • 62.92 (a)
hap-1 36
  • 61 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAM1 36
  • 39 (a)
OneToOne
HAM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G13720 35
  • 60.36 (n)
  • 61.62 (a)
soybean
(Glycine max)
eudicotyledons Gma.4938 35
barley
(Hordeum vulgare)
Liliopsida Hv.7655 35
rice
(Oryza sativa)
Liliopsida Os.46595 35
Os10g0457500 35
  • 59.18 (n)
  • 60.96 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5021 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9067 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01441 35
  • 60.29 (n)
  • 59.56 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC830.10 35
  • 52.3 (n)
  • 47.51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5968 36
  • 56 (a)
OneToOne
Species with no ortholog for ITPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ITPA Gene

ENSEMBL:
Gene Tree for ITPA (if available)
TreeFam:
Gene Tree for ITPA (if available)

Paralogs for ITPA Gene

No data available for Paralogs for ITPA Gene

Variants for ITPA Gene

Sequence variations from dbSNP and Humsavar for ITPA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) 3,213,196(+) AGTTT(A/C/G/T)CATGC intron-variant, nc-transcript-variant, reference, missense
VAR_075084 -
rs8362 -- 3,213,332(+) TACCA(A/G)GGGGA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs9101 -- 3,223,438(+) CAGGA(A/G)TACTT intron-variant, nc-transcript-variant, reference, synonymous-codon, missense
rs13830 -- 3,223,585(+) GTGTC(A/G)AGTAG intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITPA Gene

Variant ID Type Subtype PubMed ID
nsv833898 CNV Gain+Loss 17160897
nsv912604 CNV Loss 21882294
nsv528355 CNV Loss 19592680
dgv4519n71 CNV Loss 21882294
dgv4520n71 CNV Loss 21882294

Variation tolerance for ITPA Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.77; 73.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITPA Gene

HapMap Linkage Disequilibrium report
ITPA
Human Gene Mutation Database (HGMD)
ITPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPA Gene

Disorders for ITPA Gene

MalaCards: The human disease database

(8) MalaCards diseases for ITPA Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ITPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITPA_HUMAN
  • Epileptic encephalopathy, early infantile, 35 (EIEE35) [MIM:616647]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood. {ECO:0000269 PubMed:26224535}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]: A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. {ECO:0000269 PubMed:12384777, ECO:0000269 PubMed:12436200, ECO:0000269 Ref.2}. Note=The disease is caused by mutations affecting the gene represented in this entry. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme.

Relevant External Links for ITPA

Genetic Association Database (GAD)
ITPA
Human Genome Epidemiology (HuGE) Navigator
ITPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPA
genes like me logo Genes that share disorders with ITPA: view

No data available for Genatlas for ITPA Gene

Publications for ITPA Gene

  1. Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the ITPA gene. (PMID: 11278832) Lin S. … Mao Y. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. Quantitative in vitro and in vivo characterization of the human P32T mutant ITPase. (PMID: 19914375) Herting G. … Burgis N.E. (Biochim. Biophys. Acta 2010) 3 23
  3. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. (PMID: 20173735) Fellay J. … Goldstein D.B. (Nature 2010) 3 23
  4. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. (PMID: 18685564) Stocco G. … Evans W.E. (Clin. Pharmacol. Ther. 2009) 3 23
  5. Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose azathioprine for patients with systemic lupus erythematosus. (PMID: 19129747) Okada Y. … Yamamoto K. (Clin. Pharmacol. Ther. 2009) 3 23

Products for ITPA Gene

Sources for ITPA Gene

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