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ITPA Gene(Protein Coding)

Inosine Triphosphatase

GCID:
GC20P003189
GIFtS:
66
Genes Participants
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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
  • 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
  • EC 3.6.1.19 61
  • HLC14-06-P 3
  • EC 3.6.1.9 4
  • DJ794I6.3 3
  • EC 3.6.1 61
  • 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 Itpa-Related Encephalopathy and Inosine Triphosphate Pyrophosphohydrolase Deficiency. Among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Porphyrin and chlorophyll metabolism. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPA Gene

Genomics for ITPA Gene

Products:

  1. Regulatory Element

Regulatory Elements for ITPA Gene

Enhancers for ITPA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G003202 1.1 ENCODE 46 -5.0 -4978 2.7 PKNOX1 FOXA2 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ITPA DDRGK1 LZTS3 PIR45599
GH20G003172 1.4 FANTOM5 ENCODE 35.2 -34.6 -34597 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ITPA DDRGK1 ZNF343 LZTS3 AVP OXT PTPRA C20orf194 EBF4 GC20P003173
GH20G003221 1.6 Ensembl ENCODE dbSUPER 19.5 +14.1 14112 3.9 FOXA2 CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ITPA DDRGK1 LZTS3 C20orf194 ENSG00000277287
GH20G003167 1.2 Ensembl ENCODE 23 -40.4 -40383 2.0 MLX ZFP64 ARID4B DMAP1 ZNF48 ZNF143 ZHX2 MXD4 MIER2 PPARG DDRGK1 ITPA LZTS3 PIR60125
GH20G003225 0.9 ENCODE 24.6 +16.5 16522 0.2 ARID4B DMAP1 ZSCAN9 RARA SLC30A9 CREM THAP11 SP5 CEBPB ZHX2 ITPA ENSG00000277287
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITPA on UCSC Golden Path with GeneCards custom track

Promoters for ITPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133750 632 1801 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Transcription factor binding sites by QIAGEN in the ITPA gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ITPA Gene

Proteins for ITPA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ITPA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ITPA Gene

Q9BY32:
  • KIVFVTGN
  • KKIVFVTGNAKKLEE
  • GPVLVEDTCLCFNAL

Post-translational modifications for ITPA Gene

  • Ubiquitination at posLast=99 and isoforms=2, 396
  • Modification sites at PhosphoSitePlus

Other Protein References for ITPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ITPA

Domains & Families for ITPA Gene

Protein Domains for ITPA Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0004551 nucleotide diphosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0035529 NADH pyrophosphatase activity IEA --
GO:0035870 dITP diphosphatase activity EXP 11278832
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

CRISPR Products

Inhibitory RNA 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
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
extracellular 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ITPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
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

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 --
GO:0051276 chromosome organization 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

Products:

  1. Drug

(29) 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 177
Interferon Alfa-2b, Recombinant Approved Pharma 0
Mercaptopurine Approved Pharma 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1551
Peginterferon alfa-2a Approved, Investigational Pharma 565

(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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
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
genes like me logo Genes that share compounds with ITPA: view

Transcripts for ITPA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ITPA Gene

(10) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ITPA Gene

Inosine triphosphatase (nucleoside triphosphate pyrophosphatase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ITPA Gene
mRNA expression by BioGPS for ITPA GenemRNA expression by GTEx 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, MaxQB, and MOPED for ITPA Gene



Protein tissue co-expression partners for ITPA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITPA Gene:

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(4.5)
  • Liver(2.6)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with ITPA: view

Primer Products

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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
 Mammalia ITPA 34 35
  • 90.1 (n)
cow
(Bos Taurus)
 Mammalia ITPA 34 35
  • 87.91 (n)
rat
(Rattus norvegicus)
 Mammalia Itpa 34
  • 85.79 (n)
mouse
(Mus musculus)
 Mammalia Itpa 34 16 35
  • 85.66 (n)
oppossum
(Monodelphis domestica)
 Mammalia ITPA 35
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ITPA 35
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ITPA 34 35
  • 74.87 (n)
lizard
(Anolis carolinensis)
 Reptilia ITPA 35
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia itpa 34
  • 69.88 (n)
Str.5830 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10054 34
zebrafish
(Danio rerio)
 Actinopterygii itpa 34 35
  • 68.12 (n)
ITPA (2 of 2) 35
  • 66 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6320 34
fruit fly
(Drosophila melanogaster)
 Insecta CG8891 36 34 35
  • 66.3 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008374 34
  • 63.24 (n)
worm
(Caenorhabditis elegans)
 Secernentea hap-1 36 34 35
  • 58.24 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HAM1 35 37
  • 39 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT4G13720 34
  • 60.36 (n)
soybean
(Glycine max)
 eudicotyledons Gma.4938 34
rice
(Oryza sativa)
 Liliopsida Os10g0457500 34
  • 59.18 (n)
Os.46595 34
barley
(Hordeum vulgare)
 Liliopsida Hv.7655 34
wheat
(Triticum aestivum)
 Liliopsida Ta.5021 34
bread mold
(Neurospora crassa)
 Ascomycetes NCU01441 34
  • 60.29 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5968 35
  • 56 (a)
 OneToOne
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC830.10 34
  • 52.3 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9067 34
Species where no ortholog for ITPA was found in the sources mined by GeneCards:
  • 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 drug-response, Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] 3,213,196(+) AGTTT(A/C/G)CATGC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs746930990 Pathogenic, Epileptic encephalopathy, early infantile, 35 (EIEE35) [MIM:616647] 3,223,409(+) CCCAT(C/T)GCTTC intron-variant, nc-transcript-variant, reference, synonymous-codon, missense
rs200086262 Pathogenic 3,221,881(+) TGGCT(A/G)GGACC intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs863225424 Pathogenic 3,218,587(+) GCACC(-/TCAGCACC)GGGGA nc-transcript-variant, reference, frameshift-variant
rs6051657 Likely benign 3,227,753(+) TGGAG(A/G)GCTGG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for ITPA Gene

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

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

Disorders for ITPA Gene

MalaCards: The human disease database

(11) MalaCards diseases for ITPA Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, 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. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PMID: 12436200) Cao H. … Hegele R.A. (J. Hum. Genet. 2002) 3 4 22 46 64
  2. 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 22 64
  3. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. (PMID: 20173735) Fellay J. … Goldstein D.B. (Nature 2010) 3 22 46 64
  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 22 46 64
  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 22 46 64

Products for ITPA Gene

  • Addgene plasmids for ITPA

Sources for ITPA Gene

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