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HPRT1 (hypoxanthine phosphoribosyltransferase 1)

Identity

Other namesHGPRT
HPRT
HGNC (Hugo) HPRT1
LocusID (NCBI) 3251
Atlas_Id 43310
Location Xq26.2
Location_base_pair Starts at 133594175 and ends at 133634698 bp from pter ( according to hg19-Feb_2009)

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)HPRT1   5157
Cards
Entrez_Gene (NCBI)HPRT1  3251  hypoxanthine phosphoribosyltransferase 1
GeneCards (Weizmann)HPRT1
Ensembl hg19 (Hinxton)ENSG00000165704 [Gene_View]  chrX:133594175-133634698 [Contig_View]  HPRT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000165704 [Gene_View]  chrX:133594175-133634698 [Contig_View]  HPRT1 [Vega]
ICGC DataPortalENSG00000165704
TCGA cBioPortalHPRT1
AceView (NCBI)HPRT1
Genatlas (Paris)HPRT1
WikiGenes3251
SOURCE (Princeton)HPRT1
Genomic and cartography
GoldenPath hg19 (UCSC)HPRT1  -     chrX:133594175-133634698 +  Xq26.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HPRT1  -     Xq26.2   [Description]    (hg38-Dec_2013)
EnsemblHPRT1 - Xq26.2 [CytoView hg19]  HPRT1 - Xq26.2 [CytoView hg38]
Mapping of homologs : NCBIHPRT1 [Mapview hg19]  HPRT1 [Mapview hg38]
OMIM300322   300323   308000   
Gene and transcription
Genbank (Entrez)AK313435 BC000578 BT019350 CR407645 DQ895107
RefSeq transcript (Entrez)NM_000194
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012329 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)HPRT1
Cluster EST : UnigeneHs.412707 [ NCBI ]
CGAP (NCI)Hs.412707
Alternative Splicing : Fast-db (Paris)GSHG0031820
Alternative Splicing GalleryENSG00000165704
Gene ExpressionHPRT1 [ NCBI-GEO ]     HPRT1 [ SEEK ]   HPRT1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00492 (Uniprot)
NextProtP00492  [Medical]  [Publications]
With graphics : InterProP00492
Splice isoforms : SwissVarP00492 (Swissvar)
Domaine pattern : Prosite (Expaxy)PUR_PYR_PR_TRANSFER (PS00103)   
Domains : Interpro (EBI)Hxn_phspho_trans    PRibTrfase_dom    PRTase-like   
Related proteins : CluSTrP00492
Domain families : Pfam (Sanger)Pribosyltran (PF00156)   
Domain families : Pfam (NCBI)pfam00156   
DMDM Disease mutations3251
Blocks (Seattle)P00492
PDB (SRS)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6   
PDB (PDBSum)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6   
PDB (IMB)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6   
PDB (RSDB)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6   
Human Protein AtlasENSG00000165704
Peptide AtlasP00492
HPRD02388
IPIIPI00218493   IPI00873466   
Protein Interaction databases
DIP (DOE-UCLA)P00492
IntAct (EBI)P00492
FunCoupENSG00000165704
BioGRIDHPRT1
IntegromeDBHPRT1
STRING (EMBL)HPRT1
Ontologies - Pathways
QuickGOP00492
Ontology : AmiGOnucleotide binding  magnesium ion binding  response to amphetamine  hypoxanthine phosphoribosyltransferase activity  hypoxanthine phosphoribosyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  purine nucleobase metabolic process  purine nucleotide biosynthetic process  purine ribonucleoside salvage  adenine salvage  guanine salvage  grooming behavior  locomotory behavior  cytolysis  striatum development  cerebral cortex neuron differentiation  central nervous system neuron development  GMP salvage  IMP salvage  IMP salvage  dopamine metabolic process  protein homodimerization activity  purine-containing compound salvage  hypoxanthine salvage  small molecule metabolic process  positive regulation of dopamine metabolic process  GMP catabolic process  IMP metabolic process  hypoxanthine metabolic process  lymphocyte proliferation  dendrite morphogenesis  protein homotetramerization  protein homotetramerization  guanine phosphoribosyltransferase activity  nucleobase-containing small molecule metabolic process  extracellular exosome  
Ontology : EGO-EBInucleotide binding  magnesium ion binding  response to amphetamine  hypoxanthine phosphoribosyltransferase activity  hypoxanthine phosphoribosyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  purine nucleobase metabolic process  purine nucleotide biosynthetic process  purine ribonucleoside salvage  adenine salvage  guanine salvage  grooming behavior  locomotory behavior  cytolysis  striatum development  cerebral cortex neuron differentiation  central nervous system neuron development  GMP salvage  IMP salvage  IMP salvage  dopamine metabolic process  protein homodimerization activity  purine-containing compound salvage  hypoxanthine salvage  small molecule metabolic process  positive regulation of dopamine metabolic process  GMP catabolic process  IMP metabolic process  hypoxanthine metabolic process  lymphocyte proliferation  dendrite morphogenesis  protein homotetramerization  protein homotetramerization  guanine phosphoribosyltransferase activity  nucleobase-containing small molecule metabolic process  extracellular exosome  
Pathways : KEGGPurine metabolism    Drug metabolism - other enzymes   
Protein Interaction DatabaseHPRT1
DoCM (Curated mutations)HPRT1
Wikipedia pathwaysHPRT1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerHPRT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPRT1
dbVarHPRT1
ClinVarHPRT1
1000_GenomesHPRT1 
Exome Variant ServerHPRT1
SNP (GeneSNP Utah)HPRT1
SNP : HGBaseHPRT1
Genetic variants : HAPMAPHPRT1
Genomic Variants (DGV)HPRT1 [DGVbeta]
Mutations
ICGC Data PortalHPRT1 
TCGA Data PortalHPRT1 
Tumor PortalHPRT1
Somatic Mutations in Cancer : COSMICHPRT1 
LOVD (Leiden Open Variation Database)genes/HPRT1
LOVD (Leiden Open Variation Database)genes/HPRT1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:133594175-133634698
CONAN: Copy Number AnalysisHPRT1 
Mutations and Diseases : HGMDHPRT1
OMIM300322    300323    308000   
MedgenHPRT1
NextProtP00492 [Medical]
GENETestsHPRT1
Disease Genetic AssociationHPRT1
Huge Navigator HPRT1 [HugePedia]  HPRT1 [HugeCancerGEM]
snp3D : Map Gene to Disease3251
DGIdb (Drug Gene Interaction db)HPRT1
BioCentury BCIQHPRT1
General knowledge
Homologs : HomoloGeneHPRT1
Homology/Alignments : Family Browser (UCSC)HPRT1
Phylogenetic Trees/Animal Genes : TreeFamHPRT1
Chemical/Protein Interactions : CTD3251
Chemical/Pharm GKB GenePA29427
Clinical trialHPRT1
Cancer Resource (Charite)ENSG00000165704
Other databases
Probes
Litterature
PubMed155 Pubmed reference(s) in Entrez
CoreMineHPRT1
GoPubMedHPRT1
iHOPHPRT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 18:39:03 CEST 2015

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