Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITPA Gene

protein-coding   GIFtS: 69
GCID: GC20P003189

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)


(Previous symbol: C20orf37)
 Explore 31 diseases affiliated with
ITPA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ITPA    

Aliases
for ITPA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase)1 2     NTPase2 3
C20orf371 2 3     EC 3.6.1.193 8
HLC14-06-P1 2     Inosine Triphosphatase-A2
DJ794I6.31     Inosine Triphosphate Pyrophosphatase2
Non-Canonical Purine NTP Pyrophosphatase2 3     Inosine Triphosphate Pyrophosphohydrolase2
Non-Standard Purine NTP Pyrophosphatase2 3     Inosine Triphosphatase3
Nucleoside-Triphosphate Diphosphatase2 3     Nucleoside-Triphosphate Pyrophosphatase3
Putative Oncogene Protein Hlc14-06-P2 3     EC 3.6.18
ITPase2 3     

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


Summaries
for 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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  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

SwitchGear Promoter luciferase reporter plasmid: ITPA promoter sequence
   Search SABiosciences Chromatin IP Primers for ITPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ITPA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm
3 PDB 3D structures from and Proteopedia for ITPA:
2CAR (3D)        2I5D (3D)        2J4E (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BY32

    • 3 DME Specific Peptides for ITPA (Q9BY32)
     KIVFVTGN  GPVLVEDTCLCFNAL  KKIVFVTGNAKKLEE 

    ITPA Protein expression data from MOPED and PaxDb:    About this image 
    ITPA Protein Expression
    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ITPA
    OriGene Protein Over-expression Lysate (see all 3): ITPA
    OriGene Custom Protein Services for ITPA 
    GenScript Custom Purified and Recombinant Proteins Services for ITPA
    Novus Biologicals ITPA Proteins
    Novus Biologicals ITPA Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ITPA
    Uscn Proteins for ITPA

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    ITPA for ontologies           About GeneDecksing



    ITPA Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPA
    Browse R&D Systems for Antibodies
    OriGene Antibodies: ITPA
    OriGene Custom Antibody Services for ITPA 
    GenScript Custom Superior Antibodies Services for ITPA
    Novus Biologicals ITPA Antibodies
    Abcam antibodies for ITPA 
    Uscn Antibodies for ITPA
    ThermoFisher Antibody for ITPA

    Assay Products for ITPA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITPA
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ITPA

    Protein Domains /
    Families
    for ITPA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ITPA for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002637 Ham1p-like

    Graphical View of Domain Structure for InterPro Entry Q9BY32

    ProtoNet protein and cluster: Q9BY32

    1 Blocks protein family: IPB002637 Ham1-like protein

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


    Function
    for ITPA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from 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 Mar 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), 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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016787hydrolase activity ----
    GO:0035870dITP diphosphatase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0047429nucleoside-triphosphate diphosphatase activity ----
         
    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  hematopoietic system 
     integument  mortality/aging  muscle  reproductive system  respiratory system 

    ITPA for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Itpatm1Skmi for ITPA
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ITPA 

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ITPA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPA
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPA:
    hsa-miR-2355-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmid: ITPA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPA (see all 7)
    OriGene shRNA RFP: ITPA
    OriGene siRNA: ITPA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPA
    Sirion Biotech Custom design and validation of potent shRNA sequences against ITPA 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ITPA
    Sirion Biotech Customized adenovirus for overexpression of ITPA 
    Sirion Biotech Customized adenovirus for potent knockdown of ITPA

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA (see all 2)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for ITPA
    Search LifeMap BioReagents cell lines for ITPA
    Sirion Biotech Customized stable knockdown cell line services for ITPA 
    Sirion Biotech Customized inducible knockdown cell line services for ITPA
    Sirion Biotech Customized stable overexpressing cell line services for ITPA
    Sirion Biotech Customized inducible overexpressing cell line services for ITPA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA


    Pathways & Interactions
    for ITPA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2Purine metabolism
    		Purine metabolism1.00
    		Pyrimidine metabolism0.38
    3ATP/ITP metabolism
    		ATP/ITP metabolism1.00
    		ATP/ITP metabolism0.98
    4Purine metabolism
    		Metabolism of nucleotides0.42
    5Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    		Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ITPA
        ATP/ITP metabolism


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

    2        Reactome Pathways for ITPA
        Metabolism of nucleotides
    Metabolism

    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

    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 (Q9BY323 ENSP000003694564) via UniProtKB, MINT, STRING, and/or I2D (see all 168)
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006193ITP catabolic process IEA--
    GO:0051276chromosome organization IEA--

    ITPA for ontologies           About GeneDecksing



    Drugs & Compounds
    for ITPA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITPA

    10/24 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

    10/15 Novoseek 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, recombinant"CA  
    azathioprineCA  
    methotrexateCA  
    ribavirinCA  
    Search CenterWatch for drugs/clinical trials and news about ITPA 

    Transcripts
    for ITPA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from 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

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): ITPA
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPA
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPA:
    hsa-miR-2355-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmid: ITPA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPA (see all 7)
    OriGene shRNA RFP: ITPA
    OriGene siRNA: ITPA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPA
    Sirion Biotech Custom design and validation of potent shRNA sequences against ITPA 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA (see all 2)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITPA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ITPA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITPA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPA

    Additional cDNA 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 CR595616 NM_181493 CR591168 CR607092 AF026816 AF063607 
    AF334680 AF219116 AB062127 

    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

    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,
    PCR Arrays from 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTTTTAAAT
    ITPA Expression
    About this image
    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 gland

        SABiosciences Custom PCR Arrays for ITPA
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITPA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ITPA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITPA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPA
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA

    Orthologs
    for ITPA gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ITPA gene from 10/42 species (see all 42)    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 84.46(n)1
    89.64(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  XM_422234.3  XP_422234.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ITPA6
    		 --
    		 72(a)
    		 1 ↔ 1
    		 GL343300.1(1184104-1192305)
    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 si:ch73-18j6.11 si:ch73-18j6.1 68.68(n)
    75.27(a)    		   557834  NM_001099986.1  NP_001093456.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG88911 , 3 CG88911 66(a)3
    66.3(n)1
    67.21(a)1    		   337181  NM_135046.41  NP_608890.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea hap-11 , 3 Protein HAP-11 61(a)3
    58.24(n)1
    62.92(a)1    		   III(5335392-5336749)3
    1757241  NM_065720.21  NP_498121.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G137201 nucleoside-triphosphate pyrophosphatase 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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria rdgB6
    		 dITP/XTP pyrophosphatase
    		 25(a)
    		 1 ↔ 1
    		 Chromosome(3094703-3095296)


    ENSEMBL Gene Tree for ITPA (if available)
    TreeFam Gene Tree for ITPA (if available) 

    Paralogs
    for ITPA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for ITPA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/390 NCBI SNPs in ITPA are shown (see all 390)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs11273541,2
    		C,Fpathogenic3193842(+) AGTTTA/C/G/T 
                CATGC     		16 T P A S nc-transcript-variantint1 mis112MN NS EA CSA WA NA EU 6838
    rs1452547491,2
    		--3187516(+) TTAACC/GAGGCA 1 -- us2k10--------
    rs1814825001,2
    		--3187598(+) GAGGTC/TGCAGT 1 -- us2k10--------
    rs1865964441,2
    		--3187605(+) CAGTGA/TGCCGG 1 -- us2k10--------
    rs666961671,2
    		C,F--3187609(+) GAGCCG/AGGACC 1 -- us2k17Minor allele frequency- A:0.23NA WA EA 366
    rs1491806481,2
    		--3187687(+) AATGAA/GAAAGA 1 -- us2k10--------
    rs61390301,2
    		C,F,H--3187733(+) TGTGAT/CCTTTT 1 -- us2k117Minor allele frequency- C:0.11NS EA NA CSA WA 2340
    rs1113862061,2
    		C--3187774(+) CTCACG/ATCACC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1169360001,2
    		F--3188021(+) CCTACT/CATGTA 4 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1433428371,2
    		--3188058(+) GGTGAA/GGCTGG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITPA (3189514 - 3204516 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ITPA
         1 CNV: 5121
    Human Gene Mutation Database (HGMD): ITPA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITPA
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPA

    Disorders / Diseases
    for ITPA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ITPA for disorders           About GeneDecksing

    OMIM gene information: 147520    OMIM disorders: --

    UniProtKB/Swiss-Prot: ITPA_HUMAN, Q9BY32
  • Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]. It
    • is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes
    and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However,
    it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs.
    Note=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

    20/31 diseases for ITPA (see all 31):    About MalaCards
    inosine triphosphatase deficiency    adenosine deaminase deficiency    langerhans-cell histiocytosis    nodular regenerative hyperplasia
    inflammatory bowel disease    systemic lupus erythematosus    lupus erythematosus    leukopenia
    histiocytosis    hemolytic anemia    interstitial lung disease    acute lymphoblastic leukemia
    lymphoblastic leukemia    pancytopenia    rheumatoid arthritis    hepatitis c
    crohn's disease    thrombocytopenia    anemia    arthritis

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

    6 Novoseek 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

    Publications
    for ITPA gene

    (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)
    About This Section

    PubMed articles for ITPA gene, integrated from 9 sources (see all 106):
    (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. (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. (2002)
    3. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. (PubMed id 12384777)1, 2, 9 Sumi S.... Duley J.A. (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. (2004)
    5. 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. (2007)
    6. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. (PubMed id 15946879)1, 4, 9 Maeda T.... Togari H. (2005)
    7. Structure of the orthorhombic form of human inosine triphosphate pyrophosphatase. (PubMed id 17077483)1, 2, 9 Porta J....Borgstahl G.E. (2006)
    8. Mutation in the ITPA gene predicts intolerance to azathioprine. (PubMed id 15571265)1, 4, 9 Marinaki A.M....Sanderson J. (2004)
    9. Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation. (PubMed id 15973722)1, 4, 9 Breen D.P....Hayes P.C. (2005)
    10. Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study. (PubMed id 16214825)1, 4, 9 von Ahsen N....Schutz E. (2005)

    External Searches for ITPA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ITPA gene

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

    Other Databases showing ITPA gene

    (According to HUGE)
    About This Section
    		   --

    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
    NameDescription
    PharmGKB entry for ITPA Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ITPA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for 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, Uscn, Thermo Fisher Scientific, 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

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPA
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for ITPA   OriGene shRNA RFP for ITPA  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPA   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITPA  
     OriGene Protein Over-expression Lysate for ITPA   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ITPA   OriGene 3'-UTR Clone for ITPA  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPA  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for ITPA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ITPA   OriGene Custom Protein Services for ITPA  
     OriGene Custom Immunoassay Development  

         		 
     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 for resequencing ITPA
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITPA
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPA
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPA
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITPA
     GenScript Custom Purified and Recombinant Proteins Services for ITPA GenScript cDNA clones with any tag delivered in your preferred vector for ITPA
     GenScript Custom Assay Services for ITPA GenScript Custom Superior Antibodies Services for ITPA
     GenScript Custom overexpressing Cell Line Services for ITPA CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ITPA promoter
     Search Chromatin IP Primers for ITPA
     RT2 qPCR Primer Assay in human, mouse, rat ITPA
     GNC Network for ITPA
     SABiosciences Custom PCR Arrays for ITPA
     Search Tocris compounds for ITPA
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ITPA antibodies
     ITPA proteins
     ITPA lysates
     Antibodies for ITPA
     See all of Abcam's Antibodies, Kits and Proteins for ITPA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ITPA




     ITPA Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ITPA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPA
     SwitchGear 3'UTR luciferase reporter plasmids for ITPA
     SwitchGear Promoter luciferase reporter plasmids for ITPA
     ThermoFisher Antibody for ITPA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPA
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ITPA
    Sirion Biotech Customized:
     stable knockdown cell line services for ITPA
     inducible knockdown cell line services for ITPA
     design and validation of potent shRNA sequences against ITPA
     adenovirus for potent knockdown of ITPA
     adenovirus for overexpression of ITPA
     stable overexpressing cell line services for ITPA
     inducible overexpressing cell line services for ITPA
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      ITPA gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4