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ITPA Gene

protein-coding   GIFtS: 71
GCID: GC20P003189

Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase)


(Previous symbol: C20orf37)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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     

External Ids:    HGNC: 61761   Entrez Gene: 37042   Ensembl: ENSG000001258777   OMIM: 1475205   UniProtKB: Q9BY323   

Export aliases for ITPA gene to outside databases

Previous GC identifers: GC20P003178 GC20P003185 GC20P003138


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leukopenia, and inosine triphosphate pyrophosphohydrolase deficiency. GO annotations related to this gene include nucleotide binding.

UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32
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

Gene Wiki entry for ITPA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidITPA promoter sequence
   Search Chromatin IP Primers for ITPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITPA


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 (and/or Entrez Gene and/or Ensembl if different)
ITPA gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32 (See protein sequence)
Recommended Name: Inosine triphosphate pyrophosphatase  
Size: 194 amino acids; 21446 Da
Cofactor: Binds 1 magnesium ion per subunit
Subunit: Homodimer
4 PDB 3D structures from and Proteopedia for ITPA:
2CAR (3D)        2I5D (3D)        2J4E (3D)        4F95 (3D)    
Secondary accessions: A2A2N2 A4UIM5 B2BCH7 O14878 Q5JWH4 Q9BYN1 Q9BYX0 Q9H3H8
Alternative 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: 

  • Ubiquitination2 at Lys9, Lys96
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ITPA (Q9BY32)
     KIVFVTGN  GPVLVEDTCLCFNAL  KKIVFVTGNAKKLEE 


    See ITPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001254552.1  NP_258412.1  NP_852470.1  

    ENSEMBL proteins: 
     ENSP00000369456   ENSP00000413282   ENSP00000382732  
    Reactome Protein details: Q9BY32

    ITPA Human Recombinant Protein Products:

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    OriGene Purified Proteins for ITPA
    OriGene Protein Over-expression Lysate for ITPA
    OriGene MassSpec for ITPA
    OriGene Custom Protein Services for ITPA
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    Novus Biologicals ITPA Proteins
    Novus Biologicals ITPA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ITPA
    Cloud-Clone Corp. Proteins for ITPA

    ITPA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPA
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    Novus Biologicals ITPA Antibodies
    Abcam antibodies for ITPA
    Cloud-Clone Corp. Antibodies for ITPA
    ThermoFisher Antibody for ITPA
    LSBio Antibodies in human, mouse, rat for ITPA

    ITPA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITPA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITPA
    Cloud-Clone Corp. CLIAs for ITPA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027502 ITPase
     IPR002637 Ham1p-like

    Graphical View of Domain Structure for InterPro Entry Q9BY32

    ProtoNet protein and cluster: Q9BY32

    1 Blocks protein domain: IPB002637 Ham1-like protein

    UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32
    Similarity: Belongs to the HAM1 NTPase family


    ITPA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITPA_HUMAN, Q9BY32
    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
    Catalytic activity: A nucleoside triphosphate + H(2)O = a nucleotide + diphosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.51 mM for ITP; KM=0.31 mM for dITP; KM=0.57 mM for XTP;
    KM=40.7 uM 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 3.6.1.191 2 EC 3.6.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016787hydrolase activity ----
    GO:0035870dITP diphosphatase activity EXP--
    GO:0036220ITP diphosphatase activity EXP--
    GO:0036222XTP diphosphatase activity EXP--
         
    ITPA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITPA:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itpa):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     integument  mortality/aging  muscle  reproductive system  respiratory system 

    ITPA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpatm1Skmi for ITPA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITPA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITPA

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPA:
    hsa-mir-93-5p (MIRT048752)

    Block miRNA regulation of human, mouse, rat ITPA using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ITPA:
    hsa-miR-2355-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidITPA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITPA
    Predesigned siRNA for gene silencing in human, mouse, rat ITPA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITPA

    Clone
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    OriGene ORF clones in mouse, rat for ITPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ITPA (NM_033453)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPA

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ITPA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITPA_HUMAN, Q9BY32: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    mitochondrion2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    ITPA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ITPA About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    4Glucuronidation
    Drug metabolism - other enzymes0.36
    5One carbon pool by folate
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ITPA
        ATP/ITP metabolism

    1 Reactome Pathway for ITPA
        Metabolism of nucleotides

    1 PharmGKB Pathway for ITPA
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    4 Kegg Pathways  (Kegg details for ITPA):
        Purine metabolism
    Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways


    ITPA for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITPA
    Interactions:

        GeneGlobe Interaction Network for ITPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ITPA (Q9BY323 ENSP000003694564) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1B2P212813, ENSP000002763904I2D: score=4 STRING: ENSP00000276390
    RUVBL1Q9Y2653, ENSP000003182974I2D: score=1 STRING: ENSP00000318297
    CADP277083, ENSP000002647054I2D: score=1 STRING: ENSP00000264705
    HSP90AA1P079003I2D: score=3 
    RPS24P628473I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006193ITP catabolic process IEA--
    GO:0009204deoxyribonucleoside triphosphate catabolic process IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0051276chromosome organization IEA--
    GO:0055086nucleobase-containing small molecule metabolic process TAS--

    ITPA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITPA

    Selected HMDB Compounds for ITPA (see all 24)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2'-Deoxyguanosine 5'-monophosphate2'-Deoxy-5'-GMP (see all 21)902-04-5--
    2'-Deoxyinosine triphosphate2'-Deoxyinosine-5'-triphosphate (see all 6)16595-02-1--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Deoxyuridine triphosphate2'-Deoxyuridine-5'-triphosphorate (see all 9)1173-82-6--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Inosine triphosphateinosine 5'-(tetrahydrogen triphosphate) (see all 13)132-06-9--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for ITPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Citric Acid-- 77-92-9target--10592235

    Selected 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
    Drug/compound PharmGKB Annotation
    interferon alfa-2b, recombinantCA  
    azathioprineCA  
    methotrexateCA  
    ribavirinCA  



    ITPA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483354 ENST00000460676 ENST00000380113(uc002wie.3 uc002wid.3)
    ENST00000490838(uc002wif.3) ENST00000609835 ENST00000455664 ENST00000460550
    ENST00000399838 ENST00000461029 ENST00000472295
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ITPA:
    hsa-miR-2355-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidITPA 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ITPA (NM_033453)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPA
    Primer
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    OriGene qPCR primer pairs and template standards for ITPA
    OriGene qSTAR qPCR primer pairs in human, mouse for ITPA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITPA
      QuantiTect SYBR Green Assays in human, mouse, rat ITPA
      QuantiFast Probe-based Assays in human, mouse, rat ITPA

    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:

    NM_033453 BC010138 CR591168 CR607092 NM_181493 CR595616 AF026816 AB062127 
    AF219116 AF063607 AF334680 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ITPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTTAAAT
    ITPA Expression
    About this image


    ITPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Telencephalon
    ITPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPA Protein Expression

    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 gland

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITPA gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpa1 , 5 inosine triphosphatase (nucleoside triphosphate pyrophosphatase)1, 5 85.66(n)1
    90.67(a)1
      2 (63.24 cM)5
    164341  NM_025922.21  NP_080198.21 
     1306676105 
    chicken
    (Gallus gallus)
    Aves ITPA1 inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 74.87(n)
    78.07(a)
      424390  NM_001271930.1  NP_001258859.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITPA6
    inosine triphosphatase (nucleoside triphosphate py...
    65(a)
    1 ↔ 1
    GL343300.1(1183563-1192305)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.100542 Xenopus laevis transcribed sequence with moderate similarity more 76.38(n)    BU907998.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itpa1 inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 68.12(n)
    74.86(a)
      557834  XM_005160446.1  XP_005160503.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88911 , 3 CG88911 66(a)3
    66.3(n)1
    67.21(a)1
      337181  NM_135046.51  NP_608890.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hap-11 , 3 hap-11 61(a)3
    58.24(n)1
    62.92(a)1
      III(5335392-5336749)3
    1757241  NM_065720.31  NP_498121.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HAM1(YJR069C)4 Conserved protein with deoxyribonucleoside triphosphate more   --   10(569399-568806) 853532  NP_012603.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G137201 AT4G13720 60.36(n)
    61.62(a)
      827006  NM_117446.2  NP_567410.1 
    rice
    (Oryza sativa)
    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)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITPA (see all 482)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11273541,2,,4
    C,FInosine triphosphate pyrophosphohydrolase deficiency (ITPAD)4 pathogenic13137448(+) AGTTTA/C/G/
            
    CATGC
    8 T P mis1 int113MN NS EA CSA WA NA EU 7326
    rs1452547491,2
    C--3131125(+) TTAACC/GAGGCA 1 -- us2k10--------
    rs1814825001,2
    --3131207(+) GAGGTC/TGCAGT 1 -- us2k10--------
    rs1865964441,2
    --3131214(+) CAGTGA/TGCCGG 1 -- us2k10--------
    rs666961671,2
    C,F--3131218(+) GAGCCG/AGGACC 1 -- us2k17Minor allele frequency- A:0.23NA WA EA 366
    rs1491806481,2
    --3131296(+) AATGAA/GAAAGA 1 -- us2k10--------
    rs61390301,2
    C,F,H--3131342(+) TGTGAT/CCTTTT 1 -- us2k117Minor allele frequency- C:0.11NS EA NA CSA WA 2340
    rs1113862061,2
    C,F--3131383(+) CTCACG/ATCACC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1169360001,2
    C,F--3131630(+) CCTACT/CATGTA 4 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1433428371,2
    --3131667(+) GGTGAA/GGCTGG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITPA (3189514 - 3204516 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ITPA:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4520n71CNV Loss21882294
    nsv912604CNV Loss21882294
    dgv4519n71CNV Loss21882294
    nsv528355CNV Loss19592680
    nsv833898CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): ITPA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITPA
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPA

    (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.)
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    OMIM gene information: 147520   
    OMIM disorders: 613850  
    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

  • Selected diseases for ITPA (see all 33):    
    About MalaCards
    leukopenia    inosine triphosphate pyrophosphohydrolase deficiency    nodular regenerative hyperplasia    adenosine deaminase deficiency
    interstitial lung disease    pancytopenia    langerhans-cell histiocytosis    histiocytosis
    inflammatory bowel disease    thrombocytosis    hemolytic anemia    labyrinthitis
    thrombocytopenia    crohn's disease    hepatitis c virus    hepatitis c
    lymphoblastic leukemia    systemic lupus erythematosus    pneumonia    lupus erythematosus

    3 diseases from the University of Copenhagen DISEASES database for ITPA:
    Hepatitis C     Anemia     Inflammatory bowel disease

    ITPA for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for ITPA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammatory bowel diseases 71.4 9 16611274 (2), 17697198 (2), 15167706 (1), 19960028 (1) (see all 6)
    enzyme deficiency 56.8 2 17304144 (1)
    leukopenia 45.5 2 19229528 (1), 17697207 (1)
    colitis ulcerative 37.2 1 17697207 (1)
    pancreatitis 32.6 2 15564886 (1)
    hyperplasia 10.4 1 18090994 (1)

    Genetic Association Database (GAD): ITPA
    Human Genome Epidemiology (HuGE) Navigator: ITPA (40 documents)

    Export disorders for ITPA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ITPA gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with ITPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the ITPA gene. (PubMed id 11278832)1, 2, 3, 9 Lin S.... Mao Y. (J. Biol. Chem. 2001)
    2. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. (PubMed id 12436200)1, 2, 4, 9 Cao H. and Hegele R.A. (J. Hum. Genet. 2002)
    3. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. (PubMed id 12384777)1, 2, 9 Sumi S.... Duley J.A. (Hum. Genet. 2002)
    4. Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). (PubMed id 15167706)1, 4, 9 Marinaki A.M....Sanderson J.D. (Pharmacogenetics 2004)
    5. 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 Stocco G....Evans W.E. (Clin. Pharmacol. Ther. 2009)
    6. Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. (PubMed id 17138556)1, 2, 9 Stenmark P.... Schueler H. (J. Biol. Chem. 2007)
    7. Meta-analysis: Inosine triphosphate pyrophosphatase polymorphisms and thiopurine toxicity in the treatment of inflammatory bowel disease. (PubMed id 17697198)1, 4, 9 Van Dieren J.M....Van der Woude C.J. (amp 2007)
    8. Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6. (PubMed id 17304144)1, 4, 9 Atanasova S....von Ahsen N. (Ther Drug Monit 2007)
    9. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. (PubMed id 15946879)1, 4, 9 Maeda T.... Togari H. (Mol. Genet. Metab. 2005)
    10. TPMT but not ITPA gene polymorphism influences the risk of azathioprine intolerance in renal transplant recipients. (PubMed id 19229528)1, 4, 9 Kurzawski M....Drozdzik M. (Eur. J. Clin. Pharmacol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3704 HGNC: 6176 AceView: ITPA Ensembl:ENSG00000125877 euGenes: HUgn3704
    ECgene: ITPA Kegg: 3704 H-InvDB: ITPA

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITPA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITPA gene:
    Search GeneIP for patents involving ITPA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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