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Aliases for ITPA Gene

Aliases for ITPA Gene

  • Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase) 2 3
  • Non-Canonical Purine NTP Pyrophosphatase 3 4
  • Non-Standard Purine NTP Pyrophosphatase 3 4
  • Nucleoside-Triphosphate Diphosphatase 3 4
  • EC 3.6.1.19 4 64
  • C20orf37 3 4
  • ITPase 3 4
  • NTPase 3 4
  • Inosine Triphosphate Pyrophosphohydrolase 3
  • Nucleoside-Triphosphate Pyrophosphatase 4
  • Inosine Triphosphate Pyrophosphatase 3
  • Putative Oncogene Protein HLC14-06-P 3
  • Putative Oncogene Protein Hlc14-06-P 4
  • Inosine Triphosphatase-A 3
  • Inosine Triphosphatase 4
  • HLC14-06-P 3
  • DJ794I6.3 3
  • EC 3.6.1 64
  • My049 3

External Ids for ITPA Gene

Previous Symbols for ITPA Gene

  • C20orf37

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 (Nucleoside Triphosphate Pyrophosphatase)) is a Protein Coding gene. Diseases associated with ITPA include inosine triphosphate pyrophosphohydrolase deficiency and leukopenia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleotide binding.

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

Genomic Location for ITPA Gene

Start:
3,208,719 bp from pter
End:
3,223,870 bp from pter
Size:
15,152 bases
Orientation:
Plus strand

Genomic View for ITPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPA Gene

Regulatory Elements 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; Note=Binds 1 Mg(2+) ion per subunit.;
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys9 and Lys96

Other Protein References for ITPA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ITPA Gene

Protein Domains for ITPA Gene

UniProtKB/Swiss-Prot:

ITPA_HUMAN
Family:
  • Belongs to the HAM1 NTPase family.:
    • Q9BY32
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:0000166 nucleotide binding IEA --
GO:0016787 hydrolase activity --
GO:0035870 dITP diphosphatase activity EXP --
GO:0036220 ITP diphosphatase activity EXP --
GO:0036222 XTP diphosphatase activity EXP --
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:

miRNA for ITPA Gene

miRTarBase miRNAs that target ITPA

No data available for Transcription Factor Targeting 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 4
extracellular 2
mitochondrion 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ITPA: view

Pathways for ITPA Gene

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

Pathways by source for ITPA Gene

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

Gene Ontology (GO) - Biological Process for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006193 ITP catabolic process IEA --
GO:0009204 deoxyribonucleoside triphosphate catabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0051276 chromosome organization IEA --
GO:0055086 nucleobase-containing small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ITPA: view

Compounds for ITPA Gene

(24) HMDB Compounds for ITPA Gene

Compound Synonyms Cas Number PubMed IDs
2'-Deoxyguanosine 5'-monophosphate
  • 2'-Deoxy-5'-GMP
902-04-5
2'-Deoxyinosine triphosphate
  • 2'-Deoxyinosine-5'-triphosphate
16595-02-1
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4
Deoxyuridine triphosphate
  • 2'-Deoxyuridine-5'-triphosphorate
1173-82-6

(1) Drugbank Compounds for ITPA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Citric Acid
77-92-9 target

(15) Novoseek inferred chemical compound relationships for ITPA Gene

Compound -log(P) Hits PubMed IDs
inosine triphosphate 99.3 63
thiopurine 96 41
xanthosine 5-triphosphate 92.5 3
6 mercaptopurine 87.2 14
inosine 77.9 15

(5) PharmGKB related drug/compound annotations for ITPA Gene

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

Transcripts 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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with ITPA: view

Orthologs for ITPA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ITPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITPA 36
  • 99.66 (n)
  • 99.48 (a)
ITPA 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITPA 36
  • 87.91 (n)
  • 91.19 (a)
ITPA 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPA 36
  • 90.1 (n)
  • 93.75 (a)
ITPA 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpa 36
  • 85.66 (n)
  • 90.67 (a)
Itpa 16
Itpa 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITPA 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPA 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpa 36
  • 85.79 (n)
  • 92.11 (a)
chicken
(Gallus gallus)
Aves ITPA 36
  • 74.87 (n)
  • 78.07 (a)
ITPA 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPA 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10054 36
tropical clawed frog
(Silurana tropicalis)
Amphibia itpa 36
  • 69.88 (n)
  • 77.54 (a)
Str.5830 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6320 36
zebrafish
(Danio rerio)
Actinopterygii itpa 36
  • 68.12 (n)
  • 74.86 (a)
itpa 37
  • 67 (a)
OneToMany
ITPA (2 of 2) 37
  • 66 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008374 36
  • 63.24 (n)
  • 68.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8891 36
  • 66.3 (n)
  • 67.21 (a)
CG8891 37
  • 64 (a)
OneToOne
CG8891 38
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea hap-1 36
  • 58.24 (n)
  • 62.92 (a)
hap-1 37
  • 61 (a)
OneToOne
hap-1 38
  • 61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAM1 37
  • 39 (a)
OneToOne
HAM1 39
soybean
(Glycine max)
eudicotyledons Gma.4938 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G13720 36
  • 60.36 (n)
  • 61.62 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.7655 36
rice
(Oryza sativa)
Liliopsida Os.46595 36
Os10g0457500 36
  • 59.18 (n)
  • 60.96 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5021 36
bread mold
(Neurospora crassa)
Ascomycetes NCU01441 36
  • 60.29 (n)
  • 59.56 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC830.10 36
  • 52.3 (n)
  • 47.51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9067 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5968 37
  • 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 MAF
rs8362 -- 3,213,332(+) TACCA(A/G)GGGGA intron-variant, synonymous-codon, reference, nc-transcript-variant
rs9101 -- 3,223,438(+) CAGGA(A/G)TACTT synonymous-codon, reference, nc-transcript-variant, missense
rs13830 -- 3,223,585(+) GTGTC(A/G)AGTAG utr-variant-3-prime, nc-transcript-variant
rs1043688 -- 3,223,481(+) AGGAG(C/G)CCCCT utr-variant-3-prime, nc-transcript-variant, missense, reference
rs1043959 -- 3,223,814(+) CATTT(C/T)TGGAT utr-variant-3-prime, nc-transcript-variant

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

Relevant External Links for ITPA Gene

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

Disorders for ITPA Gene

(1) OMIM Diseases for ITPA Gene (147520)

UniProtKB/Swiss-Prot

ITPA_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for ITPA Gene

(6) Novoseek inferred disease relationships for ITPA Gene

Disease -log(P) Hits PubMed IDs
inflammatory bowel diseases 71.4 8
enzyme deficiency 56.8 1
leukopenia 45.5 2
colitis ulcerative 37.2 1
pancreatitis 32.6 1

Relevant External Links for ITPA

Genetic Association Database (GAD)
ITPA
Human Genome Epidemiology (HuGE) Navigator
ITPA
genes like me logo Genes that share disorders with ITPA: view

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
  2. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PMID: 12436200) Cao H. … Hegele R.A. (J. Hum. Genet. 2002) 3 4 23 49
  3. Distribution of ITPA P32T alleles in multiple world populations. (PMID: 15322947) Marsh S. … McLeod H.L. (J. Hum. Genet. 2004) 3 23 49
  4. Lack of association between the ITPA 94C>A polymorphism and adverse effects from azathioprine. (PMID: 15564886) Gearry R.B. … Kennedy M.A. (Pharmacogenetics 2004) 3 23 49
  5. Mutation in the ITPA gene predicts intolerance to azathioprine. (PMID: 15571265) Marinaki A.M. … Sanderson J. (Nucleosides Nucleotides Nucleic Acids 2004) 3 23 49

Products for ITPA Gene

Sources for ITPA Gene

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