ITPA Gene
protein-coding GIFtS : 70 GCID: GC20 P003189
Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase) C20orf37 )
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Aliasesfor ITPA gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb ,
12 H-InvDB ,
13 NCBI ,
14 NONCODE ,
and/or 15 RNAdb )About This Section Aliases Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase) 1 2 HLC14-06-P2 C20orf371 2 3 dJ794I6.32 Non-Canonical Purine NTP Pyrophosphatase2 3 Inosine Triphosphatase-A2 Non-Standard Purine NTP Pyrophosphatase2 3 Inosine Triphosphate Pyrophosphatase2 Nucleoside-Triphosphate Diphosphatase2 3 Inosine Triphosphate Pyrophosphohydrolase2 Putative Oncogene Protein Hlc14-06-P2 3 Inosine Triphosphatase3 ITPase2 3 Nucleoside-Triphosphate Pyrophosphatase3 NTPase2 3 EC 3.6.18 EC 3.6.1.193 8
Export aliases for ITPA gene to outside databases Previous GC identifers: GC20P003178 GC20P003185 GC20P003138
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Summariesfor ITPA gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section 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 leukopenia related super-pathways are Purine metabolism and Metabolic pathways . GO annotations related to this gene include dITP diphosphatase activity and nucleotide binding . UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 Function : Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosinetriphosphate (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
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Genomic Viewsfor ITPA gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 73) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000020.10 NC_018931.2 NT_011387.8 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ITPA gene promoter:AhR Max1 USF1 AML1a MIF-1 Arnt USF-1 Sox9 c-Myb c-Myc Other transcription factors Search SABiosciences Chromatin IP Primers for ITPA Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 20p Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p ITPA Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20P003189: view genomic region
(about GC identifiers )
Start: 3,189,514 bp from pter End:
3,204,516 bp from pter
Size: 15,003 bases Orientation:
plus strand
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Proteinsfor ITPA gene
(According to
UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE 1 MOPED ,
2 PaxDb , and 3 MAXQB
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Cloud-Clone Corp. ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Cloud-Clone Corp. ,
Ontologies according to Gene
Ontology Consortium 01 Oct 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
LSBio ,
Abcam , and/or
Cloud-Clone Corp. )
About This Section UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 See
protein sequence )Recommended Name: Size : 194 amino acids; 21446 DaCofactor : Binds 1 magnesium ion per subunitSubunit : HomodimerSubcellular location : Cytoplasm4 PDB 3D structures from :2CAR (3D) 2I5D (3D) 2J4E (3D) 4F95 (3D) Secondary accessions : A2A2N2 A4UIM5 B2BCH7 O14878 Q5JWH4 Q9BYN1 Q9BYX0 Q9H3H8Alternative splicing : 3 isoforms : Q9BY32-1 Q9BY32-2 Q9BY32-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ITPA: NX_Q9BY32 Explore proteomics data for ITPA at MOPED Post-translational modifications:
View modification sites using PhosphoSitePlus View neXtProt modification sites for NX_Q9BY32 3 DME Specific Peptides for ITPA (Q9BY32 ) ITPA Protein expression data from MOPED1 2 3 : About this image REFSEQ proteins (3 alternative transcripts): NP_001254552.1 NP_258412.1 NP_852470.1 ENSEMBL proteins: ENSP00000369456 ENSP00000382732 ENSP00000413282 Reactome Protein details: Q9BY32 Human Recombinant Protein Products for ITPA: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing ITPA Antibody Products: Assay Products for ITPA:
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Protein
Domains /for ITPA gene (According to HGNC , IUPHAR , InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section 2 InterPro protein domains :
Graphical View of Domain Structure for InterPro Entry Q9BY32 ProtoNet protein and cluster: Q9BY32
1 Blocks protein domain : IPB002637 UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 Similarity : Belongs to the HAM1 NTPase familyAbout GeneDecksing
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Functionfor ITPA gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: ITPA_HUMAN, Q9BY32 Function : Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosinetriphosphate (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 Catalytic activity : A nucleoside triphosphate + H(2)O = a nucleotide + diphosphateBiophysicochemical properties : Kinetic parameters: KM=0.51 mM for ITP; KM=0.31 mM for dITP; KM=0.57 mM for XTP; KM=40.7uM for dHAPTP; KM=933 uM for dGTP; Vmax=1520 umol/min/mg enzyme for ITP; Vmax=940 umol/min/mg enzyme for dITP; Vmax=1680 umol/min/mg enzyme for XTP; Note=Vmax values are similar for dITP, dHAPTP and dGTP; pH dependence: Optimum pH is 10;
Genatlas biochemistry entry for ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) Enzyme Numbers (IUBMB): EC 3.6.1.19 1 2 EC 3.6.1 2 Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for ITPA :10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itpa) :About GeneDecksing Animal Models: Itpa tm1Skmi for ITPAIn Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA
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Pathways & Interactionsfor ITPA gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Sino Biological ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene) .
About This Section SuperPaths for ITPA About See pathways by source SuperPath Contained pathways About 1 Purine metabolism 2 Metabolism 3 Purine metabolism 4 Antimetabolite Pathway - Folate Cycle, Pharmacodynamics 5 Glucuronidation
Pathways by source See SuperPaths Show all pathways 1 1 2 1 ITPA 4 (Kegg details for ITPA) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITPA STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/168 Interacting proteins for ITPA (Q9BY32 3 ENSP00000369456 4 via UniProtKB, MINT, STRING , and/or I2D (see all 168 )About this table Gene Ontology (GO): 5 biological process terms (GO ID links to tree view) : About this table
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 --
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Drugs & Compoundsfor ITPA gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
IUPHAR ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for ITPA 10/24 HMDB Compounds for ITPA (see all 24 )About this table 1 DrugBank Compound for ITPA About this table 10/15 Novoseek inferred chemical compound relationships for ITPA gene (see all 15 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
inosine triphosphate
99.3
142
17697207 (4), 11278832 (3), 15167706 (2), 15243983 (2) (see
all 43 )
thiopurine
96
63
17697198 (6), 19960028 (3), 16431304 (2), 18223458 (2) (see
all 28 )
xanthosine 5'-triphosphate
92.5
5
16384889 (1), 9337071 (1), 18600522 (1)
6 mercaptopurine
87.2
30
18685564 (5), 20021291 (3), 15571266 (1), 19151640 (1) (see
all 8 )
inosine
77.9
23
17138556 (4), 17924837 (2), 18223458 (2), 18616518 (1) (see
all 10 )
inosine monophosphate
77.8
12
16384889 (1), 20205660 (1), 18062990 (1), 15946879 (1) (see
all 7 )
azathioprine
72.3
22
15167706 (4), 16611274 (4), 16431304 (3), 15973722 (3) (see
all 8 )
azathioprine
70.1
19
19229528 (4), 19214663 (3), 20367526 (3), 18090994 (1) (see
all 7 )
6 thioguanine
64.1
3
15167706 (1), 16918876 (1), 15571265 (1)
pyrophosphate
44.6
3
15946879 (1), 19914375 (1)
4 PharmGKB related drug/compound annotations for ITPA gene About this table ITPA
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Transcriptsfor ITPA gene (Secondary structures according to
fRNAdb ,Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , KenesGroup ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ITPA gene (3 alternative transcripts): NM_001267623.1 NM_033453.3 NM_181493.2 Unigene Cluster for ITPA:
Inosine triphosphatase (nucleoside triphosphate pyrophosphatase) Hs.415299 [show with all ESTs ] Unigene Representative Sequence: BM918059 9 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000483354 ENST00000460676 ENST00000380113 (uc002wie.3 uc002wid.3 )ENST00000490838 (uc002wif.3 ) ENST00000460550 ENST00000399838 ENST00000461029 ENST00000472295 ENST00000455664 Congresses - knowledge worth sharing: European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014 Primer ITPA human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat
Additional mRNA sequence: AB062127.1 AF026816.2 AF063607.1 AF219116.1 AF334680.1 AK309165.1 BC010138.2 EF199841.1 EF213026.1 NR_052000.1 NR_052001.1 NR_052002.1
15 DOTS entries : DT.100802896 DT.452584
DT.92434627 DT.100802893 DT.40253236 DT.40305266 DT.92434612 DT.92434616 DT.100802901 DT.91934045 DT.92434624 DT.95332879 DT.95341588 DT.40193344 DT.431898 11 AceView cDNA sequences :
CR591168 CR607092 NM_181493 BC010138 CR595616 NM_033453 AF334680 AF026816 AB062127 AF219116 AF063607 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ITPA (see all 9 ) About this scheme 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 : - - -
ECgene alternative splicing isoforms for ITPA
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Expression for ITPA gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ITPA expression in normal human tissues
(normalized intensities) ITPA embryonic expression: see See probesets specificity/sensitivity at GeneAnnot About this image BioGPS 2/3 CGAP TAG: GTTTTTAAATAbout this image
ITPA expression in embryonic tissues and stem cells About this table LifeMap ,
the Embryonic Development and Stem Cells Database 5/23 selected tissues (see all 23 ) fully expand See ITPA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ITPA SOURCE GeneReport for Unigene cluster: Hs.415299 UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 Tissue specificity : Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal glandSABiosciences Custom PCR Arrays for ITPA Primer ITPA human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA
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Orthologsfor ITPA gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for ITPA gene from 10/26 species (see all 26 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse Mammalia Itpa1 5
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)1, 5
84.46(n) 1 89.64(a) 1
2 (63.24 cM) 5 16434 1 NM_025922.2 1 NP_080198.2 1 130667610 5
chicken Aves ITPA1
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
74.87(n) 78.07(a)
424390 XM_422234.3 XP_422234.1
lizard Reptilia ITPA6
Uncharacterized protein
63(a)
1 ↔ 1
GL343300.1(1183563-1192305)
African clawed frog Amphibia Xl.100542
Xenopus laevis transcribed sequence with moderate similarity more
76.38(n)
BU907998.1
zebrafish Actinopterygii si:ch73-18j6.11
si:ch73-18j6.1
68.68(n) 75.27(a)
557834 NM_001099986.1 NP_001093456.1
fruit fly Insecta CG88911 3
CG88911
66(a) 3 66.3(n) 1 67.21(a) 1
33718 1 NM_135046.4 1 NP_608890.1 1
worm Secernentea hap-11 3
Protein HAP-11
61(a) 3 58.24(n) 1 62.92(a) 1
III(5335392-5336749)3 175724 1 NM_065720.2 1 NP_498121.1 1
baker's yeast Saccharomycetes HAM1(YJR069C)4
Conserved protein with deoxyribonucleoside triphosphate more
--
10(569399-568806) 853532 NP_012603.1
thale cress eudicotyledons AT4G137201
nucleoside-triphosphate pyrophosphatase
60.36(n) 61.62(a)
827006 NM_117446.2 NP_567410.1
rice Liliopsida Os.465952
Oryza sativa (japonica cultivar-group) cDNA clone0 more
74.1(n)
AK059744.1
ENSEMBL Gene Tree for ITPA (if available)TreeFam Gene Tree for ITPA (if available)
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Paralogsfor ITPA gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section
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Genomic Variantsfor ITPA gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
4 UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 20 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for ITPA (3189514 - 3204516 bp)
Structural Variations Database of Genomic Variants (DGV) 5 variations for ITPA : About this table Human Gene Mutation Database (HGMD) : ITPA SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor ITPA gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Conferences by KenesGroup ,
Novoseek , Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 147520
OMIM disorders : --UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 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. 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 20/27 (see all 27 ): About MalaCards inosine triphosphate pyrophosphohydrolase deficiency leukopenia nodular regenerative hyperplasia adenosine deaminase deficiency interstitial lung disease langerhans-cell histiocytosis pancytopenia histiocytosis inflammatory bowel disease hemolytic anemia thrombocytopenia crohn's disease acute lymphoblastic leukemia hepatitis c systemic lupus erythematosus lymphoblastic leukemia pneumonia anemia lupus erythematosus tuberculosis 3 diseases from the University of Copenhagen DISEASES database for ITPA :Hepatitis C Anemia Inflammatory bowel disease 6 Novoseek inferred disease relationships for ITPA gene About this table
Genetic Association Database (GAD): ITPA Human Genome Epidemiology (HuGE) Navigator: ITPA (40 documents) Export disorders for ITPA gene to outside databases
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Publicationsfor ITPA gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ITPA gene, integrated from 9 sources (see all 113 ):(articles sorted by number of sources associating them with ITPA) Utopia : connect your pdf to the dynamic
Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the ITPA gene. (PubMed id 11278832) 1 , 2 , 3, 9(2001) DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PubMed id 12436200) 1 , 2 , 4, 9(2002) Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. (PubMed id 12384777) 1 , 2 , 9(2002) Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). (PubMed id 15167706) 1 , 4, 9(2004) Genetic Polymorphism of Inosine Triphosphate Pyrophosphatase Is a Determinant of Mercaptopurine Metabolism and Toxicity During Treatment for Acute Lymphoblastic Leukemia. (PubMed id 18685564) 1 , 4, 9(2008) Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. (PubMed id 17138556) 1 , 2 , 9(2007) Meta-analysis: Inosine triphosphate pyrophosphatase polymorphisms and thiopurine toxicity in the treatment of inflammatory bowel disease. (PubMed id 17697198) 1 , 4, 9(2007) Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6. (PubMed id 17304144) 1 , 4, 9(2007) Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. (PubMed id 15946879) 1 , 4, 9(2005) TPMT but not ITPA gene polymorphism influences the risk of azathioprine intolerance in renal transplant recipients. (PubMed id 19229528) 1 , 4, 9(2009)
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External Searches for ITPA gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ITPA gene
(According to
Entrez Gene ,
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ITPA gene
(According to HUGE )
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Specialized Databases showing ITPA gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for ITPA Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for ITPA gene: ITPA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ITPA gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Cloud-Clone Corp. , Thermo Fisher Scientific , LSBio , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ITPA QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Search Tocris compounds for ITPA
Recombinant Protein for ITPA
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA
ThermoFisher Antibody for ITPA
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ITPA
LSBio Antibodies in human mouse rat
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and Proteopedia 
for ITPA:
GeneGo (Thomson Reuters) Pathway for ITPA
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