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ITPA (inosine triphosphatase)

Identity

Alias_namesC20orf37
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Alias_symbol (synonym)HLC14-06-P
dJ794I6.3
Other aliasEIEE35
My049
HGNC (Hugo) ITPA
LocusID (NCBI) 3704
Atlas_Id 50717
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 3190006 and ends at 3204516 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ITPA (20p13) / ITPA (20p13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ITPA   6176
Cards
Entrez_Gene (NCBI)ITPA  3704  inosine triphosphatase
AliasesC20orf37; EIEE35; HLC14-06-P; My049; 
dJ794I6.3
GeneCards (Weizmann)ITPA
Ensembl hg19 (Hinxton)ENSG00000125877 [Gene_View]  chr20:3190006-3204516 [Contig_View]  ITPA [Vega]
Ensembl hg38 (Hinxton)ENSG00000125877 [Gene_View]  chr20:3190006-3204516 [Contig_View]  ITPA [Vega]
ICGC DataPortalENSG00000125877
TCGA cBioPortalITPA
AceView (NCBI)ITPA
Genatlas (Paris)ITPA
WikiGenes3704
SOURCE (Princeton)ITPA
Genetics Home Reference (NIH)ITPA
Genomic and cartography
GoldenPath hg19 (UCSC)ITPA  -     chr20:3190006-3204516 +  20p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITPA  -     20p13   [Description]    (hg38-Dec_2013)
EnsemblITPA - 20p13 [CytoView hg19]  ITPA - 20p13 [CytoView hg38]
Mapping of homologs : NCBIITPA [Mapview hg19]  ITPA [Mapview hg38]
OMIM147520   613850   
Gene and transcription
Genbank (Entrez)AB062127 AF026816 AF063607 AF219116 AF334680
RefSeq transcript (Entrez)NM_001267623 NM_033453 NM_181493
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_012093 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)ITPA
Cluster EST : UnigeneHs.415299 [ NCBI ]
CGAP (NCI)Hs.415299
Alternative Splicing GalleryENSG00000125877
Gene ExpressionITPA [ NCBI-GEO ]   ITPA [ EBI - ARRAY_EXPRESS ]   ITPA [ SEEK ]   ITPA [ MEM ]
Gene Expression Viewer (FireBrowse)ITPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3704
GTEX Portal (Tissue expression)ITPA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BY32   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BY32  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BY32
Splice isoforms : SwissVarQ9BY32
PhosPhoSitePlusQ9BY32
Domains : Interpro (EBI)Ham1p-like    ITPase    ITPase-like_fam   
Domain families : Pfam (Sanger)Ham1p_like (PF01725)   
Domain families : Pfam (NCBI)pfam01725   
Conserved Domain (NCBI)ITPA
DMDM Disease mutations3704
Blocks (Seattle)ITPA
PDB (SRS)2CAR    2I5D    2J4E    4F95   
PDB (PDBSum)2CAR    2I5D    2J4E    4F95   
PDB (IMB)2CAR    2I5D    2J4E    4F95   
PDB (RSDB)2CAR    2I5D    2J4E    4F95   
Structural Biology KnowledgeBase2CAR    2I5D    2J4E    4F95   
SCOP (Structural Classification of Proteins)2CAR    2I5D    2J4E    4F95   
CATH (Classification of proteins structures)2CAR    2I5D    2J4E    4F95   
SuperfamilyQ9BY32
Human Protein AtlasENSG00000125877
Peptide AtlasQ9BY32
HPRD08856
IPIIPI00018783   IPI00103348   IPI00375446   IPI00797679   
Protein Interaction databases
DIP (DOE-UCLA)Q9BY32
IntAct (EBI)Q9BY32
FunCoupENSG00000125877
BioGRIDITPA
STRING (EMBL)ITPA
ZODIACITPA
Ontologies - Pathways
QuickGOQ9BY32
Ontology : AmiGOnucleotide binding  cytoplasm  cytosol  ITP catabolic process  deoxyribonucleoside triphosphate catabolic process  dITP diphosphatase activity  ITP diphosphatase activity  XTP diphosphatase activity  metal ion binding  chromosome organization  nucleobase-containing small molecule metabolic process  
Ontology : EGO-EBInucleotide binding  cytoplasm  cytosol  ITP catabolic process  deoxyribonucleoside triphosphate catabolic process  dITP diphosphatase activity  ITP diphosphatase activity  XTP diphosphatase activity  metal ion binding  chromosome organization  nucleobase-containing small molecule metabolic process  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    Drug metabolism - other enzymes   
NDEx NetworkITPA
Atlas of Cancer Signalling NetworkITPA
Wikipedia pathwaysITPA
Orthology - Evolution
OrthoDB3704
GeneTree (enSembl)ENSG00000125877
Phylogenetic Trees/Animal Genes : TreeFamITPA
HOVERGENQ9BY32
HOGENOMQ9BY32
Homologs : HomoloGeneITPA
Homology/Alignments : Family Browser (UCSC)ITPA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPA
dbVarITPA
ClinVarITPA
1000_GenomesITPA 
Exome Variant ServerITPA
ExAC (Exome Aggregation Consortium)ITPA (select the gene name)
Genetic variants : HAPMAP3704
Genomic Variants (DGV)ITPA [DGVbeta]
DECIPHER (Syndromes)20:3190006-3204516  ENSG00000125877
CONAN: Copy Number AnalysisITPA 
Mutations
ICGC Data PortalITPA 
TCGA Data PortalITPA 
Broad Tumor PortalITPA
OASIS PortalITPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITPA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Pharmacogenomics of Infectious Diseases (PGx_IfD )
BioMutasearch ITPA
DgiDB (Drug Gene Interaction Database)ITPA
DoCM (Curated mutations)ITPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPA (select a term)
intoGenITPA
Cancer3DITPA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147520    613850   
Orphanet20571    23724   
MedgenITPA
Genetic Testing Registry ITPA
NextProtQ9BY32 [Medical]
TSGene3704
GENETestsITPA
Huge Navigator ITPA [HugePedia]
snp3D : Map Gene to Disease3704
BioCentury BCIQITPA
ClinGenITPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3704
Chemical/Pharm GKB GenePA29973
Clinical trialITPA
Miscellaneous
canSAR (ICR)ITPA (select the gene name)
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPA
EVEXITPA
GoPubMedITPA
iHOPITPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:38 CEST 2017

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