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 p... See more...

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
  • Inosine Triphosphate Pyrophosphatase 3 4
  • HLC14-06-P 2 3
  • DJ794I6.3 2 3
  • C20orf37 3 4
  • ITPase 3 4
  • NTPase 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Inosine Triphosphate Pyrophosphohydrolase 3
  • Nucleoside-Triphosphate Pyrophosphatase 4
  • Putative Oncogene Protein HLC14-06-P 3
  • Putative Oncogene Protein Hlc14-06-P 4
  • EC 3.6.1.19 50
  • EC 3.6.1.9 4
  • EC 3.6.1 50
  • DEE35 3
  • My049 3
  • ITPA 5

External Ids for ITPA Gene

Previous HGNC Symbols for ITPA Gene

  • C20orf37

Previous GeneCards Identifiers for ITPA Gene

  • GC20P003178
  • GC20P003185
  • GC20P003138
  • GC20P003189

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 Inosine Triphosphatase Deficiency and Developmental And Epileptic Encephalopathy 35. Among its related pathways are ATP/ITP metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include nucleotide binding and nucleoside-triphosphate diphosphatase activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPA Gene

Genomics for ITPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J003202 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 295.9 -4.8 -4786 2.7 ZNF207 MYC IKZF1 ZNF600 SSRP1 POLR2A CEBPA ZIC2 YY1 MXD4 ITPA DDRGK1 lnc-DDRGK1-1 NOP56 LZTS3 HSALNG0128235
GH20J003208 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 265.8 +0.8 802 3 ZNF207 IKZF1 MYC POLR2A ZBTB10 YY1 MXD4 SMAD5 KLF11 SIN3A ITPA DDRGK1 NONHSAG031148.2 KF269991 SLC4A11
GH20J003172 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 35.2 -34.3 -34276 3.6 SP1 IKZF1 ZNF600 ZMYM3 ATF2 KLF9 CEBPA ZSCAN16 NFIC POLR2A LZTS3 LOC107985414 MN297785 lnc-ITPA-2 ITPA DDRGK1 ZNF343 PANK2-AS1 SNRPB VPS16
GH20J003406 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 18.1 +198.8 198825 3.8 SP1 MYC ZNF600 IKZF1 JUND ZNF592 KLF9 POLR2A ZIC2 CHD4 DNAAF9 ENSG00000288577 lnc-ATRN-4 lnc-C20orf194-1 ITPA SLC4A11 NOP56 VPS16 CDC25B
GH20J003167 Promoter/Enhancer 1.2 Ensembl ENCODE 23 -40.1 -40081 1.6 SSRP1 ZMYM3 KLF9 POLR2A CHD4 MXD4 KLF11 ZFP64 SIN3A KMT2B DDRGK1 ITPA ZNF343 SNRPB VPS16 MAVS LZTS3 piR-37080 UBOX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITPA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPA

Top Transcription factor binding sites by QIAGEN in the ITPA gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Myb
  • c-Myc
  • Max1
  • MIF-1
  • Sox9
  • USF-1
  • USF1

Genomic Locations for ITPA Gene

Latest Assembly
chr20:3,208,676-3,227,449
(GRCh38/hg38)
Size:
18,774 bases
Orientation:
Plus strand

Previous Assembly
chr20:3,189,322-3,208,095
(GRCh37/hg19 by Entrez Gene)
Size:
18,774 bases
Orientation:
Plus strand

chr20:3,189,514-3,204,516
(GRCh37/hg19 by Ensembl)
Size:
15,003 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

Selected DME Specific Peptides for ITPA Gene

Q9BY32:
  • KIVFVTGN
  • KKIVFVTGNAKKLEE
  • GPVLVEDTCLCFNAL

Post-translational modifications for ITPA Gene

  • Ubiquitination at Lys9 and Lys96
  • Modification sites at PhosphoSitePlus

Domains & Families for ITPA Gene

Gene Families for ITPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ITPA Gene

InterPro:
Blocks:
  • Ham1-like protein

Suggested Antigen Peptide Sequences for ITPA Gene

GenScript: Design optimal peptide antigens:
  • Putative oncogene protein hlc14-06-p (ITPA_HUMAN)
  • ITPase (Q5NT82_HUMAN)

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

Function for ITPA Gene

Molecular function for ITPA Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + H2O = a ribonucleoside 5'-phosphate + diphosphate + H(+); Xref=Rhea:RHEA:23996, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:58043, ChEBI:CHEBI:61557; EC=3.6.1.9; Evidence={ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:17090528};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + H2O = a 2'-deoxyribonucleoside 5'-phosphate + diphosphate + H(+); Xref=Rhea:RHEA:44644, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:65317; EC=3.6.1.9; Evidence={ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:17090528};.
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};
GENATLAS Biochemistry:
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Enzyme Numbers (IUBMB) for ITPA Gene

Phenotypes From GWAS Catalog 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:0004551 nucleotide diphosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0035529 NADH pyrophosphatase activity IEA --
GO:0035870 dITP 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

Human Phenotype Ontology for ITPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITPA Gene

MGI Knock Outs for ITPA:
  • Itpa Itpa<tm1Skmi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITPA

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITPA gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ITPA: view

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
  • ATP/ITP metabolism

Gene Ontology (GO) - Biological Process for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006193 ITP catabolic process IEA --
GO:0006195 purine nucleotide catabolic process TAS --
GO:0009117 nucleotide metabolic process IEA --
GO:0009143 nucleoside triphosphate catabolic process IBA 21873635
GO:0009204 deoxyribonucleoside triphosphate catabolic process IEA --
genes like me logo Genes that share ontologies with ITPA: view

No data available for SIGNOR curated interactions for ITPA Gene

Drugs & Compounds for ITPA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azathioprine Approved Pharma Enzyme, substrate 237
Citric acid Approved, Vet_approved Nutra Target 1606
Magnesium Approved, Experimental, Investigational Pharma 0
Mercaptopurine Approved Pharma 237
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
132-06-9
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
2'-Deoxyinosine triphosphate
  • 2'-Deoxyinosine 5'-triphosphate
  • 2'-Deoxyinosine-5'-triphosphate
  • Deoxyinosine 5'-triphosphate
  • 2'-Deoxyinosine 5'-triphosphoric acid
  • 2'-Deoxyinosine-5'-triphosphoric acid
16595-02-1
6-Thioinosine triphosphate
  • 6-Thioinosine-5'-triphosphate
  • 6-Thioinosine-5'-triphosphoric acid
  • 6-Mercaptopurine ribonucleoside triphosphoric acid
  • 6-Thioadenosine-5'-triphosphate
  • SRTP
6-Thioinosine-5'-monophosphate
  • 9-(5-Phospho-1-ribofuranosyl)-6-mercaptopurine
  • 6-Thioinosine-5'-monophosphoric acid
  • 6-TIMP
  • 6-Mercaptopurine ribonucleoside 5'-monophosphate
  • 6-Thio-imp
genes like me logo Genes that share compounds with ITPA: view

Transcripts for ITPA Gene

mRNA/cDNA for ITPA Gene

8 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITPA

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

Expression for ITPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ITPA Gene



Protein tissue co-expression partners for ITPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITPA

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.

Evidence on tissue expression from TISSUES for ITPA Gene

  • Nervous system(4.6)
  • Liver(2.9)
  • Skin(2.6)
  • Blood(2.4)
  • Kidney(2.2)
  • Lung(2.2)
  • Spleen(2.1)
  • Intestine(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with ITPA: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ITPA 29 30
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITPA 29 30
  • 90.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITPA 29 30
  • 87.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itpa 29
  • 85.79 (n)
Mouse
(Mus musculus)
Mammalia Itpa 29 16 30
  • 85.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITPA 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITPA 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITPA 29 30
  • 74.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITPA 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itpa 29
  • 69.88 (n)
Str.5830 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.10054 29
Zebrafish
(Danio rerio)
Actinopterygii itpa 29 30
  • 68.12 (n)
OneToMany
ITPA (2 of 2) 30
  • 66 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6320 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8891 29 30 31
  • 66.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008374 29
  • 63.24 (n)
Worm
(Caenorhabditis elegans)
Secernentea hap-1 29 30 31
  • 58.24 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAM1 30 32
  • 39 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G13720 29
  • 60.36 (n)
Soybean
(Glycine max)
eudicotyledons Gma.4938 29
Rice
(Oryza sativa)
Liliopsida Os10g0457500 29
  • 59.18 (n)
Os.46595 29
Barley
(Hordeum vulgare)
Liliopsida Hv.7655 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5021 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU01441 29
  • 60.29 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5968 30
  • 56 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC830.10 29
  • 52.3 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9067 29
Species where no ortholog for ITPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITPA: view image
Alliance of Genome Resources:
Additional Orthologs for ITPA

Paralogs for ITPA Gene

No data available for Paralogs for ITPA Gene

Variants for ITPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPA Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1000267 Uncertain Significance: Inosine triphosphatase deficiency 3,223,455(+) C/G
NM_033453.4(ITPA):c.578C>G (p.Ala193Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1004907 Uncertain Significance: Inosine triphosphatase deficiency 3,218,636(+) C/T
NM_033453.4(ITPA):c.411+4C>T
INTRON
1007202 Uncertain Significance: Inosine triphosphatase deficiency 3,215,302(+) A/C
NM_033453.4(ITPA):c.285A>C (p.Leu95Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
1018636 Uncertain Significance: Inosine triphosphatase deficiency 3,221,871(+) G/T
NM_033453.4(ITPA):c.442G>T (p.Asp148Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1025873 Uncertain Significance: Inosine triphosphatase deficiency 3,221,908(+) A/T
NM_033453.4(ITPA):c.479A>T (p.Tyr160Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITPA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1067207 CNV gain 25217958
nsv1071674 CNV deletion 25765185
nsv1116842 CNV deletion 24896259
nsv528355 CNV loss 19592680
nsv585276 CNV gain 21841781
nsv833898 CNV gain+loss 17160897
nsv952979 CNV deletion 24416366

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)

Additional Variant Information for ITPA Gene

Human Gene Mutation Database (HGMD)
ITPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPA
Leiden Open Variation Database (LOVD)
ITPA

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITPA Gene

MalaCards: The human disease database

(17) MalaCards diseases for ITPA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
inosine triphosphatase deficiency
  • inosine triphosphate pyrophosphohydrolase deficiency
developmental and epileptic encephalopathy 35
  • dee35
thiopurines, poor metabolism of, 1
  • thpm1
nodular regenerative hyperplasia
  • miliary hepatocellular adenomatosis
asymptomatic neurosyphilis
  • neurosyphilis
- 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
  • 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 variants 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.
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for ITPA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ITPA: view

No data available for Genatlas for ITPA Gene

Publications for ITPA Gene

  1. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PMID: 12436200) Cao H … Hegele RA (Journal of human genetics 2002) 3 4 22 40
  2. Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. (PMID: 11278832) Lin S … Mao Y (The Journal of biological chemistry 2001) 2 3 4 22
  3. Recessive ITPA mutations cause an early infantile encephalopathy. (PMID: 26224535) Kevelam SH … van der Knaap MS (Annals of neurology 2015) 3 4 72
  4. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. (PMID: 20173735) Fellay J … Goldstein DB (Nature 2010) 3 22 40
  5. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 22 40

Products for ITPA Gene

Sources for ITPA Gene