Aliases for HPRT1 Gene
Aliases for HPRT1 Gene
External Ids for HPRT1 Gene
- HGNC: 5157
- Entrez Gene: 3251
- Ensembl: ENSG00000165704
- OMIM: 308000
- UniProtKB: P00492
Previous HGNC Symbols for HPRT1 Gene
- HPRT
Previous GeneCards Identifiers for HPRT1 Gene
- GC0XP128239
- GC0XP130440
- GC0XP131539
- GC0XP132299
- GC0XP133319
- GC0XP133421
- GC0XP133594
- GC0XP122992
Summaries for HPRT1 Gene
-
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
GeneCards Summary for HPRT1 Gene
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) is a Protein Coding gene. Diseases associated with HPRT1 include Lesch-Nyhan Syndrome and Kelley-Seegmiller Syndrome. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and nucleotide binding. An important paralog of this gene is PRTFDC1.
UniProtKB/Swiss-Prot for HPRT1 Gene
-
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Additional gene information for HPRT1 Gene
- Monarch Initiative
- Search for HPRT1 at DataMed
- Search for HPRT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPRT1 Gene
Genomics for HPRT1 Gene
GeneHancer (GH) Regulatory Elements for HPRT1 Gene
Promoters and enhancers for HPRT1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ134459 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 650.4 | +7.9 | 7857 | 2.2 | ATF1 ARNT SIN3A YY1 GLIS2 ATF7 REST ZNF592 HMBOX1 KDM1A | HPRT1 ZNF75D GC0XP134493 | |
| GH0XJ134453 | Promoter | 0.7 | EPDnew | 650.7 | +1.0 | 967 | 0.1 | HMBOX1 CBFA2T3 | HPRT1 GC0XP134493 | |
| GH0XJ134470 | Enhancer | 0.3 | Ensembl | 0.4 | +17.3 | 17259 | 0.2 | MNT | HPRT1 GC0XP134493 | |
| GH0XJ134511 | Enhancer | 0.5 | ENCODE | 0.2 | +59.8 | 59836 | 2.4 | JUND RFX1 JUN PRDM10 FOSL2 FOS ZNF600 | PIR45670 RPL36AP54 HPRT1 | |
| GH0XJ134469 | Enhancer | 0.2 | Ensembl | 0.4 | +16.9 | 16859 | 0.2 | HPRT1 GC0XP134493 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around HPRT1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HPRT1 gene promoter:
-
- p53
- FOXL1
- NF-kappaB2
- NF-kappaB1
- NF-kappaB
- POU2F1a
- POU2F1
- Nkx2-2
- POU6F1 (c2)
- AP-2gamma
Regulatory Element Products
Genomic Locations for HPRT1 Gene
Genomic Locations for HPRT1 Gene
- chrX:134,452,842-134,520,513
- (GRCh38/hg38)
- Size:
- 67,672 bases
- Orientation:
- Plus strand
- chrX:133,594,175-133,654,543
- (GRCh37/hg19)
- Size:
- 60,369 bases
- Orientation:
- Plus strand
Genomic View for HPRT1 Gene
Genes around HPRT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq26.2-q26.3 by Entrez Gene
- Xq26.2-q26.3 by HGNC
- Xq26.2 by Ensembl
HPRT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HPRT1 Gene
Proteins for HPRT1 Gene
-
Protein details for HPRT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00492-HPRT_HUMAN
- Recommended name:
- Hypoxanthine-guanine phosphoribosyltransferase
- Protein Accession:
- P00492
- A6NHF0
- B2R8M9
Protein attributes for HPRT1 Gene
- Size:
- 218 amino acids
- Molecular mass:
- 24579 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homotetramer.
Protein Expression for HPRT1 Gene
Post-translational modifications for HPRT1 Gene
Other Protein References for HPRT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HPRT1
- Novus Biologicals Antibodies for HPRT1
-
Abcam antibodies for HPRT1
- Invitrogen Antibodies for HPRT1
- antibodies-online: Search results for 174 available HPRT1 Antibodies ranked by validation data
- Compare Top HPRT1 Antibodies
-
Recommended
- 24 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 143 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex HPRT1 Antibody for HPRT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HPRT1
Protein Products
-
OriGene Purified Proteins for HPRT1
- Search Origene for MassSpec and Protein Over-expression Lysates for HPRT1
- Origene Custom Protein Services for HPRT1
- ProSpec Recombinant Proteins for HPRT1
- Search GeneTex for Proteins for HPRT1
-
ProSci Proteins for HPRT1
-
Abcam proteins for HPRT1
Assay Products
No data available for DME Specific Peptides for HPRT1 Gene
Domains & Families for HPRT1 Gene
Gene Families for HPRT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for HPRT1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HPRT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P00492UniProtKB/Swiss-Prot:
HPRT_HUMAN :- Belongs to the purine/pyrimidine phosphoribosyltransferase family.
- Family:
-
- Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Function for HPRT1 Gene
Molecular function for HPRT1 Gene
- UniProtKB/Swiss-Prot Function:
- Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
- UniProtKB/Swiss-Prot CatalyticActivity:
- IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=5.4 uM for IMP {ECO:0000269 PubMed:10338013}; KM=0.45 uM for hypoxanthine {ECO:0000269 PubMed:10338013}; KM=25 uM for pyrophosphate {ECO:0000269 PubMed:10338013}; KM=31 uM for phosphoribosylpyrophosphate {ECO:0000269 PubMed:10338013};
- GENATLAS Biochemistry:
- hypoxanthine phosphoribosyltransferase,purine salvage pathway
Enzyme Numbers (IUBMB) for HPRT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IDA | 10360366 |
| GO:0004422 | hypoxanthine phosphoribosyltransferase activity | EXP,IDA | 6300847 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for HPRT1 Gene
- MGI mutant phenotypes for HPRT1:
-
inferred from 186 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- taste/olfaction phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for HPRT1:
Animal Models for HPRT1 Gene
- MGI Knock Outs for HPRT1:
-
- Hprt Hprt<tm1(tetO-EGFP/Rac1*)Shaw>
- Hprt Hprt<tm1a(EUCOMM)Hmgu>
- Hprt Hprt<tm2(Penk1-lacZ)Saub>
- Hprt Hprt<tm10(VWF-lacZ)Aird>
- Hprt Hprt<tm11Aird>
- Hprt Hprt<tm3(ROBO4-lacZ)Aird>
- Hprt Hprt<tm1(Trp53RE-EGFP)Dpl>
- Hprt Hprt<tm1(tetO-lacZ)Frje>
- Hprt Hprt<tm2(Trp53RE-EGFP)Dpl>
- Hprt Hprt<tm5(RCAN1-lacZ)Aird>
- Hprt Hprt<tm7(VWF-lacZ)Aird>
- Hprt Hprt<tm4(CAG-DsRed)Brd>
- Hprt Hprt<tm1(Penk1-lacZ)Saub>
- Hprt Hprt<tm6(VWF-lacZ)Aird>
- Hprt Hprt<tm87(Ple15-lacZ)Ems>
- Hprt Hprt<tm9(VWF-lacZ)Aird>
- Hprt Hprt<tm8(VWF-lacZ)Aird>
- Hprt Hprt<tm1.1Pobe>
- Hprt Hprt<tm5(Myh7-GFP,Myh6-CFP)Unc>
- Hprt Hprt<tm73(Ple142-lacZ)Ems>
- Hprt Hprt<tm1(Nfkb1-EGFP)Cjo>
- Hprt Hprt<tm2Brd>
- Hprt Hprt<tm1(CAG-Sox9,-EGFP)Akis>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HPRT1
-
CRISPR Products
-
OriGene CRISPR knockouts for HPRT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
- genomics-online: gRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- Applied Biological Materials CRISPR for HPRT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- GenScript: Design CRISPR guide RNA sequences for HPRT1
miRNA for HPRT1 Gene
- miRTarBase miRNAs that target HPRT1
-
- hsa-mir-193b-3p (MIRT016412)
- hsa-mir-34a-5p (MIRT025379)
- hsa-mir-30c-5p (MIRT048012)
- hsa-mir-577 (MIRT108861)
- hsa-mir-548k (MIRT108863)
- hsa-mir-4509 (MIRT108866)
- hsa-mir-4744 (MIRT108868)
- hsa-mir-548av-5p (MIRT108869)
- hsa-mir-8054 (MIRT108872)
- hsa-mir-19a-3p (MIRT108873)
- hsa-mir-19b-3p (MIRT108874)
- hsa-mir-130a-3p (MIRT108877)
- hsa-mir-301a-3p (MIRT108879)
- hsa-mir-130b-3p (MIRT108880)
- hsa-mir-454-3p (MIRT108885)
- hsa-mir-301b-3p (MIRT108886)
- hsa-mir-4295 (MIRT108887)
- hsa-mir-3666 (MIRT108889)
- hsa-mir-4671-3p (MIRT108890)
- hsa-mir-576-5p (MIRT556984)
- hsa-mir-4263 (MIRT556985)
- hsa-mir-4799-5p (MIRT556986)
- hsa-mir-548l (MIRT556987)
- hsa-mir-559 (MIRT556988)
- hsa-mir-548y (MIRT556989)
- hsa-mir-548w (MIRT556990)
- hsa-mir-548o-5p (MIRT556991)
- hsa-mir-548j-5p (MIRT556992)
- hsa-mir-548i (MIRT556993)
- hsa-mir-548h-5p (MIRT556994)
- hsa-mir-548d-5p (MIRT556995)
- hsa-mir-548c-5p (MIRT556996)
- hsa-mir-548bb-5p (MIRT556997)
- hsa-mir-548b-5p (MIRT556998)
- hsa-mir-548ay-5p (MIRT556999)
- hsa-mir-548au-5p (MIRT557000)
- hsa-mir-548as-5p (MIRT557001)
- hsa-mir-548ar-5p (MIRT557002)
- hsa-mir-548aq-5p (MIRT557003)
- hsa-mir-548ap-5p (MIRT557004)
- hsa-mir-548am-5p (MIRT557005)
- hsa-mir-548ak (MIRT557006)
- hsa-mir-548ae-5p (MIRT557007)
- hsa-mir-548ad-5p (MIRT557008)
- hsa-mir-548ab (MIRT557009)
- hsa-mir-548a-5p (MIRT557010)
- hsa-mir-4282 (MIRT557011)
- hsa-mir-651-5p (MIRT571981)
- hsa-mir-107 (MIRT571982)
- hsa-mir-103a-3p (MIRT571983)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
- genomics-online: shRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- VectorBuilder custom plasmid, inducible vectors for HPRT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HPRT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HPRT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HPRT1
- Applied Biological Materials Clones for HPRT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HPRT1
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HPRT1 Gene
Localization for HPRT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HPRT1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| cytoskeleton | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 6300847 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 20458337 |
Pathways & Interactions for HPRT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Pyrimidine metabolism (KEGG) | ||
| 4 | Mesodermal Commitment Pathway | ||
| 5 | Drug metabolism - cytochrome P450 | ||
Pathways by source for HPRT1 Gene
6 BioSystems pathways for HPRT1 Gene
4 Reactome pathways for HPRT1 Gene
1 PharmGKB pathway for HPRT1 Gene
3 KEGG pathways for HPRT1 Gene
1 GeneGo (Thomson Reuters) pathway for HPRT1 Gene
UniProtKB/Swiss-Prot P00492-HPRT_HUMAN
- Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
Interacting Proteins for HPRT1 Gene
Selected Interacting proteins:
P00492-HPRT_HUMAN
ENSP00000298556
for HPRT1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HPRT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001975 | response to amphetamine | IEA | -- |
| GO:0006164 | purine nucleotide biosynthetic process | IMP | 9824441 |
| GO:0006166 | purine ribonucleoside salvage | IMP | 9824441 |
| GO:0006168 | adenine salvage | IEA | -- |
| GO:0006178 | guanine salvage | IDA | 19527031 |
No data available for SIGNOR curated interactions for HPRT1 Gene
Drugs & Compounds for HPRT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Mercaptopurine | Approved | Pharma | inhibitor, Target | 0 | ||
| Azathioprine | Approved | Pharma | Target, inhibitor | 190 | ||
| Thioguanine | Approved | Pharma | Enzyme, substrate | Purine antimetabolite | 83 | |
| Mycophenolic acid | Approved | Pharma | 987 | |||
| Adenine | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 | ||||
| 6-Methylmercaptopurine |
|
|
||||
| 6-Methylthiopurine 5'-monophosphate ribonucleotide |
|
|
||||
| 6-Thioguanosine monophosphate |
|
|
||||
| 6-Thioinosine-5'-monophosphate |
|
|
Drug Products
Transcripts for HPRT1 Gene
mRNA/cDNA for HPRT1 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (275) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000298556 1407 bps (uc004exl.5)
- ENST00000462974 724 bps (uc065bed.1)
- ENST00000475720 599 bps (uc065bee.1)
Unigene Clusters for HPRT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPRT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
- genomics-online: gRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- Applied Biological Materials CRISPR for HPRT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- GenScript: Design CRISPR guide RNA sequences for HPRT1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
- genomics-online: shRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- VectorBuilder custom plasmid, inducible vectors for HPRT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HPRT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HPRT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HPRT1
- Applied Biological Materials Clones for HPRT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HPRT1 Gene
This gene is overexpressed in Brain (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HPRT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HPRT1 Gene:
HPRT1SOURCE GeneReport for Unigene cluster for HPRT1 Gene:
Hs.412707Evidence on tissue expression from TISSUES for HPRT1 Gene
- Nervous system(4.7)
- Liver(4.6)
- Blood(2.9)
- Lung(2.9)
- Bone marrow(2.5)
- Kidney(2.5)
- Spleen(2.5)
- Skin(2.3)
- Heart(2.2)
- Intestine(2.2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPRT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- kidney
- stomach
Pelvis:
- testicle
- ureter
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for HPRT1
-
OriGene qPCR primer pairs for HPRT1
- genomics-online: primer clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HPRT1 Gene
Orthologs for HPRT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPRT1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HPRT1 33 |
|
||
| HPRT 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | HPRT1 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| LOC510369 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Hprt 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hprt1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HPRT1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | HPRT1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HPRT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hprt1 33 |
|
||
| MGC76223 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | hprt1 34 33 |
|
OneToOne | |
| Dr.1668 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9341 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y105E8B.5 33 |
|
||
| Y105E8B.5 34 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.4587 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4587 33 |
|
- Species where no ortholog for HPRT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for HPRT1 Gene
- ENSEMBL:
- Gene Tree for HPRT1 (if available)
- TreeFam:
- Gene Tree for HPRT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HPRT1: view image
Paralogs for HPRT1 Gene
(1) SIMAP similar genes for HPRT1 Gene using alignment to 2 proteins:
- HPRT_HUMAN
- Q6LET3_HUMAN
Pseudogenes.org Pseudogenes for HPRT1 Gene
Variants for HPRT1 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs137852477 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ANN ARBOR, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,490,199(+) | T/G | coding_sequence_variant, missense_variant | |
| rs137852478 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,475,285(+) | A/T | coding_sequence_variant, missense_variant | |
| rs137852479 | pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLE, Gout HPRT-related (GOUT-HPRT) [MIM:300323] | 134,498,677(+) | A/G | coding_sequence_variant, missense_variant | |
| rs137852480 | pathogenic, other, Lesch-Nyhan syndrome, HPRT DETROIT, Lesch-Nyhan syndrome (LNS) [MIM:300322] | 134,473,453(+) | T/C | coding_sequence_variant, missense_variant | |
| rs137852481 | pathogenic, other, Lesch-Nyhan syndrome, HPRT FLINT, Lesch-Nyhan syndrome (LNS) [MIM:300322] | 134,475,268(+) | C/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.13;
2.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HPRT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPRT1 Gene
Disorders for HPRT1 Gene
(25) MalaCards diseases for HPRT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lesch-nyhan syndrome |
|
|
| kelley-seegmiller syndrome |
|
|
| gout |
|
|
| hyperuricemia |
|
|
| purine-pyrimidine metabolic disorder |
|
|
Search HPRT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HPRT_HUMAN- Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:20544509, ECO:0000269 PubMed:2071157, ECO:0000269 PubMed:2246854, ECO:0000269 PubMed:2347587, ECO:0000269 PubMed:2358296, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2572141, ECO:0000269 PubMed:2910902, ECO:0000269 PubMed:3265398, ECO:0000269 PubMed:3384338, ECO:0000269 PubMed:6853716, ECO:0000269 PubMed:7627191, ECO:0000269 PubMed:9452051}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:20544509, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2896620, ECO:0000269 PubMed:2909537, ECO:0000269 PubMed:3198771, ECO:0000269 PubMed:3358423, ECO:0000269 PubMed:6572373, ECO:0000269 PubMed:6706936, ECO:0000269 PubMed:6853490, ECO:0000269 PubMed:7987318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for HPRT1 Gene
Lesch Nyhan syndrome,including severe juvenile gout
Additional Disease Information for HPRT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for HPRT1 Gene
- Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 22 44 58
- Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T … Finette BA (Cancer research 2009) 3 22 44 58
- Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. (PMID: 17027311) Yamada Y … Wakamatsu N (Molecular genetics and metabolism 2007) 3 4 22 58
- Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PMID: 17697207) Palmieri O … Annese V (Alimentary pharmacology & therapeutics 2007) 3 22 44 58
- The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. (PMID: 15990111) Keough DT … Guddat LW (Journal of molecular biology 2005) 3 4 22 58
Products for HPRT1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HPRT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HPRT1
- Search Origene for MassSpec and Protein Over-expression Lysates for HPRT1
- Origene Custom Protein Services for HPRT1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HPRT1
- Browse OriGene Inhibitory RNA Products For HPRT1
- OriGene qPCR primer pairs and template standards for HPRT1
- OriGene qPCR primer pairs for HPRT1
- OriGene CRISPR knockouts for HPRT1
- OriGene ORF clones in human for HPRT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HPRT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for HPRT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HPRT1
- GenScript Custom Assay Services for HPRT1
- GenScript Custom overexpressing Cell Line Services for HPRT1
- GenScript: Design CRISPR guide RNA sequences for HPRT1
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Sino Biological Human cDNA Clone for HPRT1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HPRT1
- Novus Biologicals lysates and proteins for HPRT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for HPRT1
- Abcam proteins for HPRT1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for HPRT1
- VectorBuilder custom plasmid, inducible vectors for HPRT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HPRT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HPRT1
- antibodies-online: Search results for 174 available HPRT1 Antibodies ranked by validation data
- Compare Top HPRT1 Antibodies
- Recommended
- 24 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 143 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Search results for 15 available HPRT1 Elisa Kits ranked by validation data
- Compare Top HPRT1 Elisa Kits
- antibodies-online: Search results for 32 available HPRT1 Proteins ranked by validation data
- Compare Top HPRT1 Proteins
- GeneTex HPRT1 Antibody for HPRT1
- Search GeneTex for Proteins for HPRT1
- Santa Cruz Biotechnology (SCBT) Antibodies for HPRT1
- Search Santa Cruz Biotechnology (SCBT) for HPRT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HPRT1
- Search for HPRT1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for HPRT1
- Horizon Cell Lines for HPRT1
- genomics-online: cdna clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- orf clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- genomics-online: gRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- genomics-online: primer clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- genomics-online: shRNA clones - Search results for 170 available HPRT1 gene related products
- Overview of 170 available HPRT1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HPRT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HPRT1
- GeneCopoeia miRNA 3'UTR Target clone products for HPRT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1
Sources for HPRT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt