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mutLBSgeneDB |
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| Gene summary for HPRT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HPRT1 |
| Gene name | hypoxanthine phosphoribosyltransferase 1 | |
| Synonyms | HGPRT|HPRT | |
| Cytomap | UCSC genome browser: Xq26.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000194.2, | |
| Description | HGPRTasehypoxanthine-guanine phosphoribosyltransferase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 308000 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000165704 | ||
| HPRD : 02388 | ||
| Vega : OTTHUMG00000022452 | ||
| Protein | UniProt: P00492 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HPRT1 | |
| BioGPS: 3251 | ||
| Pathway | NCI Pathway Interaction Database: HPRT1 | |
| KEGG: HPRT1 | ||
| REACTOME: HPRT1 | ||
| Pathway Commons: HPRT1 | ||
| Context | iHOP: HPRT1 | |
| ligand binding site mutation search in PubMed: HPRT1 | ||
| UCL Cancer Institute: HPRT1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006178 | guanine salvage | 19527031 | GO:0043103 | hypoxanthine salvage | 19527031 | GO:0046038 | GMP catabolic process | 19527031 | GO:0046040 | IMP metabolic process | 19527031 | GO:0051289 | protein homotetramerization | 9521733 |
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| Ligand binding site mutations for HPRT1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D194 | Y195N | COAD | 1 | D194 | Y195C | LUSC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for HPRT1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D194 | Y195N | -1.1835686 | D194 | Y195C | -0.91332769 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for HPRT1 from PDB |
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| Differential gene expression and gene-gene network for HPRT1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for HPRT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023374 | Lesch-Nyhan Syndrome | 103 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0740394 | Hyperuricemia | 20 | Biomarker, GeneticVariation |
| umls:C0268117 | Gout, HPRT-Related | 16 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HPRT1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00993 | Azathioprine | Small molecule |  |
| Approved | DB01033 | Mercaptopurine | Small molecule |  |
| Experimental | DB01632 | Alpha-Phosphoribosylpyrophosphoric Acid | Small molecule |  |
| Experimental | DB02309 | 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine | Small molecule |  |
| Experimental | DB03153 | 3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol | Small molecule |  |
| Experimental | DB04356 | 9-Deazaguanine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HPRT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of HPRT1 |
| Multiple alignments for P00492 in multiple species |
| LBS | AA sequence | # species | Species | A192 | FVVGYALDYNE | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | C106 | RLKSYCNDQST | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | D108 | KSYCNDQSTGD | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | D135 | VLIVEDIIDTG | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | D138 | VEDIIDTGKTM | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | D194 | VGYALDYNEYF | 4 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus | D194 | VGYALDYNEHF | 1 | Rattus norvegicus | E134 | NVLIVEDIIDT | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | E197 | ALDYNEYFRDL | 4 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus | E197 | ALDYNEHFRDL | 1 | Rattus norvegicus | F187 | EIPDKFVVGYA | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | F187 | EVPDKFVVGYA | 1 | Gallus gallus | G140 | DIIDTGKTMQT | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | G140 | DIIDTGKTMKT | 1 | Gallus gallus | G70 | LCVLKGGYKFF | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | G71 | CVLKGGYKFFA | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | I136 | LIVEDIIDTGK | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | I137 | IVEDIIDTGKT | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | K103 | DFIRLKSYCND | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | K141 | IIDTGKTMQTL | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | K141 | IIDTGKTMKTL | 1 | Gallus gallus | K166 | ASLLVKRTPRS | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | K166 | ASLLVKRTSRS | 2 | Rattus norvegicus, Mus musculus | K186 | FEIPDKFVVGY | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | K186 | FEVPDKFVVGY | 1 | Gallus gallus | K69 | ALCVLKGGYKF | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | L102 | VDFIRLKSYCN | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | L193 | VVGYALDYNEY | 4 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus | L193 | VVGYALDYNEH | 1 | Rattus norvegicus | L68 | VALCVLKGGYK | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | R200 | YNEYFRDLNHV | 3 | Homo sapiens, Pan troglodytes, Mus musculus | R200 | YNEYFRDLNHI | 1 | Gallus gallus | R200 | YNEHFRDLNHV | 1 | Rattus norvegicus | S104 | FIRLKSYCNDQ | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus | T111 | CNDQSTGDIKV | 4 | Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus | T111 | CNDQSTGDTKV | 1 | Pan troglodytes | T139 | EDIIDTGKTMQ | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | T139 | EDIIDTGKTMK | 1 | Gallus gallus | T142 | IDTGKTMQTLL | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | T142 | IDTGKTMKTLL | 1 | Gallus gallus | V188 | IPDKFVVGYAL | 4 | Homo sapiens, Pan troglodytes, Rattus norvegicus, Mus musculus | V188 | VPDKFVVGYAL | 1 | Gallus gallus | Y105 | IRLKSYCNDQS | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Rattus norvegicus, Mus musculus |
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