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
External Ids for ITPA Gene
- HGNC: 6176
- Entrez Gene: 3704
- Ensembl: ENSG00000125877
- OMIM: 147520
- UniProtKB: Q9BY32
Previous HGNC Symbols for ITPA Gene
- C20orf37
Previous GeneCards Identifiers for ITPA Gene
- GC20P003178
- GC20P003185
- GC20P003138
Summaries 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 Epileptic Encephalopathy, Early Infantile, 35. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (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.
Additional gene information for ITPA Gene
- Monarch Initiative
- Search for ITPA at DataMed
- Search for ITPA at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPA Gene
Genomics for ITPA Gene
GeneHancer (GH) Regulatory Elements for ITPA Gene
Promoters and enhancers for ITPA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ITPA on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ITPA Gene
Genomic Locations for ITPA Gene
- chr20:3,208,868-3,227,449
- (GRCh38/hg38)
- Size:
- 18,582 bases
- Orientation:
- Plus strand
- chr20:3,189,514-3,204,516
- (GRCh37/hg19)
Genomic View for ITPA Gene
Genes around ITPA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p13 by Ensembl
- 20p13 by Entrez Gene
- 20p13 by HGNC
ITPA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for ITPA Gene
Selected DME Specific Peptides for ITPA Gene
- Q9BY32:
-
- KIVFVTGN
- KKIVFVTGNAKKLEE
- GPVLVEDTCLCFNAL
Post-translational modifications for ITPA Gene
- Ubiquitination at isoforms=39 and isoforms=2, 396
Other Protein References for ITPA Gene
Antibody Products
- Novus Biologicals Antibodies for ITPA
-
Abcam antibodies for ITPA
-
Cloud-Clone Corp. Antibodies for ITPA
- Invitrogen Antibodies for ITPA
- GeneTex ITPA antibody for ITPA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITPA
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ITPA
- Origene Custom Protein Services for ITPA
- ProSpec Recombinant Proteins for ITPA
-
Cloud-Clone Corp. Proteins for ITPA
- Search GeneTex for Proteins for ITPA
-
ProSci Proteins for ITPA
-
Abcam proteins for ITPA
Assay Products
- antibodies-online: Search results for 12 available ITPA Elisa Kits ranked by validation data
- Compare Top ITPA Elisa Kits
-
Quality Products:
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for ITPA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BY32- Family:
-
- Belongs to the HAM1 NTPase family.
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
Phenotypes From GWAS Catalog 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 |
Phenotypes for ITPA Gene
- MGI mutant phenotypes for ITPA:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ITPA:
-
- Increased viability
- Increased gamma-H2AX phosphorylation
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased interferon-beta reporter expression
Animal Models for ITPA Gene
- MGI Knock Outs for ITPA:
-
- Itpa tm1Skmi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ITPA
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ITPA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITPA gene
- Search ViGene Biosciences for ITPA
CRISPR Products
-
OriGene CRISPR knockouts for ITPA
- genomics-online: gRNA clones - Search results for available ITPA gene related products
- Applied Biological Materials CRISPR for ITPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITPA
- GenScript: Design CRISPR guide RNA sequences for ITPA
miRNA for ITPA Gene
- miRTarBase miRNAs that target ITPA
-
- hsa-mir-93-5p (MIRT048752)
- hsa-mir-1287-5p (MIRT709583)
- hsa-mir-3135b (MIRT709584)
- hsa-mir-3692-5p (MIRT709585)
- hsa-mir-6862-3p (MIRT709586)
- hsa-mir-6784-3p (MIRT709587)
- hsa-mir-6893-3p (MIRT709588)
- hsa-mir-370-3p (MIRT709589)
- hsa-mir-6764-5p (MIRT709590)
- hsa-mir-1915-3p (MIRT709591)
- hsa-mir-6837-5p (MIRT709592)
- hsa-mir-4685-5p (MIRT709593)
- hsa-mir-3918 (MIRT709594)
- hsa-mir-500b-3p (MIRT709595)
- hsa-mir-1226-3p (MIRT790049)
- hsa-mir-194-3p (MIRT790147)
- hsa-mir-3136-3p (MIRT790234)
- hsa-mir-3189-5p (MIRT790264)
- hsa-mir-342-5p (MIRT790294)
- hsa-mir-4293 (MIRT790413)
- hsa-mir-4664-5p (MIRT790543)
- hsa-mir-4709-5p (MIRT790579)
- hsa-mir-4758-3p (MIRT790618)
- hsa-mir-5580-5p (MIRT790760)
- hsa-mir-5699-5p (MIRT790786)
- hsa-mir-637 (MIRT790839)
- hsa-mir-661 (MIRT790873)
- hsa-mir-6741-5p (MIRT790909)
- hsa-mir-6748-5p (MIRT790916)
- hsa-mir-6751-5p (MIRT790923)
- hsa-mir-6752-5p (MIRT790926)
- hsa-mir-6803-5p (MIRT790975)
- hsa-mir-6835-5p (MIRT791011)
- hsa-mir-6842-5p (MIRT791015)
- hsa-mir-6849-3p (MIRT791025)
- hsa-mir-6852-5p (MIRT791031)
- hsa-mir-7110-5p (MIRT791093)
- hsa-mir-7155-3p (MIRT791107)
miRNA Products
- Search ViGene Biosciences for ITPA
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ITPA
- Browse OriGene Inhibitory RNA Products For ITPA
- genomics-online: shRNA clones - Search results for available ITPA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ITPA gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ITPA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITPA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ITPA
- genomics-online: cdna clones - Search results for available ITPA gene related products
- orf clones - Search results for available ITPA gene related products
- Applied Biological Materials Clones for ITPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ITPA
-
ViGene Biosciences adenoviral particle packaged cDNA for ITPA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ITPA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITPA gene
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for ITPA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Pyrimidine metabolism (KEGG) | ||
| 3 | Drug metabolism - cytochrome P450 | ||
| 4 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | Purine metabolism | ||
Pathways by source for ITPA Gene
2 Reactome pathways for ITPA Gene
1 PharmGKB pathway for ITPA Gene
3 KEGG pathways for ITPA Gene
1 GeneGo (Thomson Reuters) pathway for ITPA Gene
Interacting Proteins for ITPA Gene
Selected Interacting proteins:
ENSP00000369456
Q9BY32-ITPA_HUMAN
for ITPA Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for ITPA Gene
Drugs & Compounds for ITPA Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| inosine triphosphate |
|
132-06-9 | ||||
| pyrophosphate |
|
14000-31-8 | ||||
| xanthosine 5-triphosphate |
|
6253-56-1 | ||||
| 2'-Deoxyinosine triphosphate |
|
16595-02-1 |
|
|||
| 6-Mercaptopurine ribonucleoside triphosphate |
|
|
Transcripts for ITPA Gene
mRNA/cDNA for ITPA Gene
- (11) Selected AceView cDNA sequences:
- (12) Additional mRNA sequences :
- (11) REFSEQ mRNAs :
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ITPA Gene
CRISPR Products
-
OriGene CRISPR knockouts for ITPA
- genomics-online: gRNA clones - Search results for available ITPA gene related products
- Applied Biological Materials CRISPR for ITPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITPA
- GenScript: Design CRISPR guide RNA sequences for ITPA
miRNA Products
- Search ViGene Biosciences for ITPA
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ITPA
- Browse OriGene Inhibitory RNA Products For ITPA
- genomics-online: shRNA clones - Search results for available ITPA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ITPA gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ITPA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITPA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ITPA
- genomics-online: cdna clones - Search results for available ITPA gene related products
- orf clones - Search results for available ITPA gene related products
- Applied Biological Materials Clones for ITPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ITPA Gene:
ITPASOURCE GeneReport for Unigene cluster for ITPA Gene:
Hs.415299mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ITPA
-
OriGene qPCR primer pairs and template standards for ITPA
- genomics-online: primer clones - Search results for available ITPA gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ITPA 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ITPA 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ITPA 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Itpa 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Itpa 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ITPA 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ITPA 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ITPA 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ITPA 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | itpa 33 |
|
||
| Str.5830 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10054 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | itpa 33 34 |
|
||
| ITPA (2 of 2) 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6320 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8891 35 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008374 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | hap-1 35 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HAM1 34 36 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G13720 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.4938 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0457500 33 |
|
||
| Os.46595 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.7655 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.5021 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01441 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5968 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC830.10 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9067 33 |
|
- 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)
Paralogs for ITPA Gene
No data available for Paralogs for ITPA Gene
Variants for ITPA Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1127354 | affects, drug-response, Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity/ADR, interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR, Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] | 3,213,196(+) | C/A/G | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs114819623 | benign, Inosine triphosphatase deficiency | 3,218,536(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs142574480 | likely-benign, Inosine triphosphatase deficiency | 3,213,226(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs144682597 | likely-benign, Inosine triphosphatase deficiency | 3,213,198(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs145329644 | benign, Inosine triphosphatase deficiency | 3,215,308(+) | T/G | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPA Gene
Disorders for ITPA Gene
(9) MalaCards diseases for ITPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inosine triphosphatase deficiency |
|
|
| epileptic encephalopathy, early infantile, 35 |
|
|
| susceptibility to adverse reaction due to mercaptopurine |
|
|
| asymptomatic neurosyphilis |
|
|
| thiopurines, poor metabolism of, 1 |
|
|
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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.
Additional Disease Information for ITPA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ITPA Gene
Publications for ITPA Gene
- DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PMID: 12436200) Cao H … Hegele RA (Journal of human genetics 2002) 3 4 22 44 58
- 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 58
- ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. (PMID: 20173735) Fellay J … Goldstein DB (Nature 2010) 3 22 44 58
- 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 WE (Clinical pharmacology and therapeutics 2009) 3 22 44 58
- 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 (Clinical pharmacology and therapeutics 2009) 3 22 44 58
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