Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HPRT1 (hypoxanthine phosphoribosyltransferase 1)

Identity

Alias_namesHPRT
Alias_symbol (synonym)HGPRT
HGNC (Hugo) HPRT1
LocusID (NCBI) 3251
Atlas_Id 43310
Location Xq26.2  [Link to chromosome band Xq26]
Location_base_pair Starts at 133594175 and ends at 133634698 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HPRT1 (Xq26.2) / CTPS2 (Xp22.2)HPRT1 (Xq26.2) / HNRNPDL (4q21.22)HPRT1 (Xq26.2) / HPRT1 (Xq26.2)
HPRT1 (Xq26.2) / LRRC2 (3p21.31)HPRT1 (Xq26.2) / PRH1-PRR4 (12p13.2)SLC25A38 (3p22.1) / HPRT1 (Xq26.2)
HPRT1 Xq26.2 / CTPS2 Xp22.2HPRT1 Xq26.2 / LRRC2 3p21.31

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
AliasesHGPRT; HPRT
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
Genetics Home Reference (NIH)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 GalleryENSG00000165704
Gene ExpressionHPRT1 [ NCBI-GEO ]   HPRT1 [ EBI - ARRAY_EXPRESS ]   HPRT1 [ SEEK ]   HPRT1 [ MEM ]
Gene Expression Viewer (FireBrowse)HPRT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3251
GTEX Portal (Tissue expression)HPRT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00492   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00492  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00492
Splice isoforms : SwissVarP00492
PhosPhoSitePlusP00492
Domaine pattern : Prosite (Expaxy)PUR_PYR_PR_TRANSFER (PS00103)   
Domains : Interpro (EBI)Hxn_phspho_trans    PRibTrfase_dom    PRTase-like   
Domain families : Pfam (Sanger)Pribosyltran (PF00156)   
Domain families : Pfam (NCBI)pfam00156   
Conserved Domain (NCBI)HPRT1
DMDM Disease mutations3251
Blocks (Seattle)HPRT1
PDB (SRS)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
PDB (PDBSum)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
PDB (IMB)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
PDB (RSDB)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
Structural Biology KnowledgeBase1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
SCOP (Structural Classification of Proteins)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
CATH (Classification of proteins structures)1BZY    1D6N    1HMP    1Z7G    2VFA    3GEP    3GGC    3GGJ    4IJQ    4KN6    4RAB    4RAC    4RAD    4RAN    4RAO    4RAQ    5BRN    5BSK   
SuperfamilyP00492
Human Protein AtlasENSG00000165704
Peptide AtlasP00492
HPRD02388
IPIIPI00218493   IPI00873466   
Protein Interaction databases
DIP (DOE-UCLA)P00492
IntAct (EBI)P00492
FunCoupENSG00000165704
BioGRIDHPRT1
STRING (EMBL)HPRT1
ZODIACHPRT1
Ontologies - Pathways
QuickGOP00492
Ontology : AmiGOnucleotide binding  magnesium ion binding  response to amphetamine  hypoxanthine phosphoribosyltransferase activity  hypoxanthine phosphoribosyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  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  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  extracellular exosome  
Ontology : EGO-EBInucleotide binding  magnesium ion binding  response to amphetamine  hypoxanthine phosphoribosyltransferase activity  hypoxanthine phosphoribosyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  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  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  extracellular exosome  
Pathways : KEGGPurine metabolism    Drug metabolism - other enzymes   
NDEx NetworkHPRT1
Atlas of Cancer Signalling NetworkHPRT1
Wikipedia pathwaysHPRT1
Orthology - Evolution
OrthoDB3251
GeneTree (enSembl)ENSG00000165704
Phylogenetic Trees/Animal Genes : TreeFamHPRT1
HOVERGENP00492
HOGENOMP00492
Homologs : HomoloGeneHPRT1
Homology/Alignments : Family Browser (UCSC)HPRT1
Gene fusions - Rearrangements
Fusion : MitelmanHPRT1/CTPS2 [Xq26.2/Xp22.2]  
Fusion : MitelmanHPRT1/LRRC2 [Xq26.2/3p21.31]  [t(X;3)(q26;p21)]  
Fusion: TCGAHPRT1 Xq26.2 CTPS2 Xp22.2 BRCA
Fusion: TCGAHPRT1 Xq26.2 LRRC2 3p21.31 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPRT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPRT1
dbVarHPRT1
ClinVarHPRT1
1000_GenomesHPRT1 
Exome Variant ServerHPRT1
ExAC (Exome Aggregation Consortium)HPRT1 (select the gene name)
Genetic variants : HAPMAP3251
Genomic Variants (DGV)HPRT1 [DGVbeta]
DECIPHER (Syndromes)X:133594175-133634698  ENSG00000165704
CONAN: Copy Number AnalysisHPRT1 
Mutations
ICGC Data PortalHPRT1 
TCGA Data PortalHPRT1 
Broad Tumor PortalHPRT1
OASIS PortalHPRT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPRT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPRT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HPRT1
DgiDB (Drug Gene Interaction Database)HPRT1
DoCM (Curated mutations)HPRT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPRT1 (select a term)
intoGenHPRT1
Cancer3DHPRT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300322    300323    308000   
Orphanet197    11259   
MedgenHPRT1
Genetic Testing Registry HPRT1
NextProtP00492 [Medical]
TSGene3251
GENETestsHPRT1
Huge Navigator HPRT1 [HugePedia]
snp3D : Map Gene to Disease3251
BioCentury BCIQHPRT1
ClinGenHPRT1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3251
Chemical/Pharm GKB GenePA29427
Clinical trialHPRT1
Miscellaneous
canSAR (ICR)HPRT1 (select the gene name)
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPRT1
EVEXHPRT1
GoPubMedHPRT1
iHOPHPRT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:39:46 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.