HPRT1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	HPRT1
Entrez Gene ID	3251
Full Name	hypoxanthine phosphoribosyltransferase 1
Synonyms	HGPRT,HPRT
General protein information	Preferred Names hypoxanthine phosphoribosyltransferase 1 Names hypoxanthine-guanine phosphoribosyltransferase HGPRTase hypoxanthine-guanine phosphoribosyltransferase 1 testicular tissue protein Li 89
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xq26.2-q26.3
Summary	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].
Disorder MIM:	308000
Disorder Html:	Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000194.2	NP_000185.1	hypoxanthine-guanine phosphoribosyltransferase
NM_000194.3	NP_000185.1	hypoxanthine-guanine phosphoribosyltransferase

Pathways from BioSystems

Homologies

Xenopus tropicalis (tropical clawed frog)	hprt1	NP_989312.1
	LOC709186	XP_001097691.1
Canis lupus familiaris (dog)	HPRT1	NP_001003357.1
Bos taurus (cattle)	LOC510369	XP_002686486.1
Mus musculus (house mouse)	Hprt	NP_038584.2
Gallus gallus (chicken)	HPRT1	NP_990179.1
Caenorhabditis elegans (roundworm)	CELE_Y105E8B.5	NP_493545.1
Homo sapiens (human)	HPRT1	NP_000185.1
Pan troglodytes (chimpanzee)	HPRT1	NP_001104287.1
Rattus norvegicus (Norway rat)	Hprt1	NP_036715.1
Danio rerio (zebrafish)	hprt1	NP_998151.1

Gene Ontology
Bibliography

Related articles in PubMed

Skewed X inactivation in Lesch-Nyhan disease carrier females.
Torres RJ, Puig JG
Journal of human genetics62(12)1079-1083(2017 Dec)

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Nguyen KV, Naviaux RK, Nyhan WL
Nucleosides, nucleotides & nucleic acids36(11)704-711(2017 Nov)

CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
Gasperini M, Findlay GM, McKenna A, Milbank JH, Lee C, Zhang MD, Cusanovich DA, Shendure J
American journal of human genetics101(2)192-205(2017 Aug)

Lesch-Nyhan disease in two families from Chilo? Island with mutations in the HPRT1 gene.
Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL
Nucleosides, nucleotides & nucleic acids36(7)452-462(2017 Jul)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

mutation in the human HPRT1 gene and the Lesch-Nyhan disease
Title: Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

The results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden.
Title: CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.

Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene
Title: Lesch-Nyhan disease in two families from Chilo? Island with mutations in the HPRT1 gene.

Three novel independent mutations in the coding region of the HPRT1 gene are responsible for the HPRT1 deficiency.
Title: Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing.
Title: Novel mutation in HPRT1 causing a splicing error with multiple variations.

The following HPRT1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HPRT1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu26272	NM_000194.3 Latest version!	Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu26272	NM_000194.2	Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

HPRT1 ( NM_000194.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_000185.1 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.

Price & Availability↑

CloneID	OHu26272
Clone ID Related Accession (Same CDS sequence)	NM_000194.2 , NM_000194.3
Accession Version	NM_000194.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 657bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-11-19
Organism	Homo sapiens(human)
Product	hypoxanthine-guanine phosphoribosyltransferase
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC004383.1, M31642.1 and BC000578.2. This sequence is a reference standard in the RefSeqGene project. On Jan 9, 2008 this sequence version replaced NM_000194.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.440783.1, SRR1803613.237988.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGACCC GCAGCCCTGG CGTCGTGATT AGTGATGATG AACCAGGTTA TGACCTTGAT 
TTATTTTGCA TACCTAATCA TTATGCTGAG GATTTGGAAA GGGTGTTTAT TCCTCATGGA 
CTAATTATGG ACAGGACTGA ACGTCTTGCT CGAGATGTGA TGAAGGAGAT GGGAGGCCAT 
CACATTGTAG CCCTCTGTGT GCTCAAGGGG GGCTATAAAT TCTTTGCTGA CCTGCTGGAT 
TACATCAAAG CACTGAATAG AAATAGTGAT AGATCCATTC CTATGACTGT AGATTTTATC 
AGACTGAAGA GCTATTGTAA TGACCAGTCA ACAGGGGACA TAAAAGTAAT TGGTGGAGAT 
GATCTCTCAA CTTTAACTGG AAAGAATGTC TTGATTGTGG AAGATATAAT TGACACTGGC 
AAAACAATGC AGACTTTGCT TTCCTTGGTC AGGCAGTATA ATCCAAAGAT GGTCAAGGTC 
GCAAGCTTGC TGGTGAAAAG GACCCCACGA AGTGTTGGAT ATAAGCCAGA CTTTGTTGGA 
TTTGAAATTC CAGACAAGTT TGTTGTAGGA TATGCCCTTG ACTATAATGA ATACTTCAGG 
GATTTGAATC ATGTTTGTGT CATTAGTGAA ACTGGAAAAG CAAAATACAA AGCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000185.1
CDS	168..824
Translation	MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA

Target ORF information:

RefSeq Version	NM_000194.2
Organism	Homo sapiens(human)
Definition	Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000194.2

ORF Insert Sequence:

ATGGCGACCC GCAGCCCTGG CGTCGTGATT AGTGATGATG AACCAGGTTA TGACCTTGAT 
TTATTTTGCA TACCTAATCA TTATGCTGAG GATTTGGAAA GGGTGTTTAT TCCTCATGGA 
CTAATTATGG ACAGGACTGA ACGTCTTGCT CGAGATGTGA TGAAGGAGAT GGGAGGCCAT 
CACATTGTAG CCCTCTGTGT GCTCAAGGGG GGCTATAAAT TCTTTGCTGA CCTGCTGGAT 
TACATCAAAG CACTGAATAG AAATAGTGAT AGATCCATTC CTATGACTGT AGATTTTATC 
AGACTGAAGA GCTATTGTAA TGACCAGTCA ACAGGGGACA TAAAAGTAAT TGGTGGAGAT 
GATCTCTCAA CTTTAACTGG AAAGAATGTC TTGATTGTGG AAGATATAAT TGACACTGGC 
AAAACAATGC AGACTTTGCT TTCCTTGGTC AGGCAGTATA ATCCAAAGAT GGTCAAGGTC 
GCAAGCTTGC TGGTGAAAAG GACCCCACGA AGTGTTGGAT ATAAGCCAGA CTTTGTTGGA 
TTTGAAATTC CAGACAAGTT TGTTGTAGGA TATGCCCTTG ACTATAATGA ATACTTCAGG 
GATTTGAATC ATGTTTGTGT CATTAGTGAA ACTGGAAAAG CAAAATACAA AGCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

HPRT1 ( NM_000194.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000185.1 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.

Price & Availability↑

CloneID	OHu26272
Clone ID Related Accession (Same CDS sequence)	NM_000194.2 , NM_000194.3
Accession Version	NM_000194.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 657bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-30
Organism	Homo sapiens(human)
Product	hypoxanthine-guanine phosphoribosyltransferase
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC004383.1, M31642.1 and BC000578.2. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_000194.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.174892.1, SRR3476690.20350.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000298556.8/ ENSP00000298556.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCGACCC GCAGCCCTGG CGTCGTGATT AGTGATGATG AACCAGGTTA TGACCTTGAT 
TTATTTTGCA TACCTAATCA TTATGCTGAG GATTTGGAAA GGGTGTTTAT TCCTCATGGA 
CTAATTATGG ACAGGACTGA ACGTCTTGCT CGAGATGTGA TGAAGGAGAT GGGAGGCCAT 
CACATTGTAG CCCTCTGTGT GCTCAAGGGG GGCTATAAAT TCTTTGCTGA CCTGCTGGAT 
TACATCAAAG CACTGAATAG AAATAGTGAT AGATCCATTC CTATGACTGT AGATTTTATC 
AGACTGAAGA GCTATTGTAA TGACCAGTCA ACAGGGGACA TAAAAGTAAT TGGTGGAGAT 
GATCTCTCAA CTTTAACTGG AAAGAATGTC TTGATTGTGG AAGATATAAT TGACACTGGC 
AAAACAATGC AGACTTTGCT TTCCTTGGTC AGGCAGTATA ATCCAAAGAT GGTCAAGGTC 
GCAAGCTTGC TGGTGAAAAG GACCCCACGA AGTGTTGGAT ATAAGCCAGA CTTTGTTGGA 
TTTGAAATTC CAGACAAGTT TGTTGTAGGA TATGCCCTTG ACTATAATGA ATACTTCAGG 
GATTTGAATC ATGTTTGTGT CATTAGTGAA ACTGGAAAAG CAAAATACAA AGCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000185.1
CDS	148..804
Translation	MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA

Target ORF information:

RefSeq Version	NM_000194.3
Organism	Homo sapiens(human)
Definition	Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000194.3

ORF Insert Sequence:

ATGGCGACCC GCAGCCCTGG CGTCGTGATT AGTGATGATG AACCAGGTTA TGACCTTGAT 
TTATTTTGCA TACCTAATCA TTATGCTGAG GATTTGGAAA GGGTGTTTAT TCCTCATGGA 
CTAATTATGG ACAGGACTGA ACGTCTTGCT CGAGATGTGA TGAAGGAGAT GGGAGGCCAT 
CACATTGTAG CCCTCTGTGT GCTCAAGGGG GGCTATAAAT TCTTTGCTGA CCTGCTGGAT 
TACATCAAAG CACTGAATAG AAATAGTGAT AGATCCATTC CTATGACTGT AGATTTTATC 
AGACTGAAGA GCTATTGTAA TGACCAGTCA ACAGGGGACA TAAAAGTAAT TGGTGGAGAT 
GATCTCTCAA CTTTAACTGG AAAGAATGTC TTGATTGTGG AAGATATAAT TGACACTGGC 
AAAACAATGC AGACTTTGCT TTCCTTGGTC AGGCAGTATA ATCCAAAGAT GGTCAAGGTC 
GCAAGCTTGC TGGTGAAAAG GACCCCACGA AGTGTTGGAT ATAAGCCAGA CTTTGTTGGA 
TTTGAAATTC CAGACAAGTT TGTTGTAGGA TATGCCCTTG ACTATAATGA ATACTTCAGG 
GATTTGAATC ATGTTTGTGT CATTAGTGAA ACTGGAAAAG CAAAATACAA AGCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Skewed X inactivation in Lesch-Nyhan disease carrier females.
Journal of human genetics62(12)1079-1083(2017 Dec)
Torres RJ,Puig JG

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Nucleosides, nucleotides & nucleic acids36(11)704-711(2017 Nov)
Nguyen KV,Naviaux RK,Nyhan WL

CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
American journal of human genetics101(2)192-205(2017 Aug)
Gasperini M,Findlay GM,McKenna A,Milbank JH,Lee C,Zhang MD,Cusanovich DA,Shendure J

Lesch-Nyhan disease in two families from Chilo? Island with mutations in the HPRT1 gene.
Nucleosides, nucleotides & nucleic acids36(7)452-462(2017 Jul)
Nguyen KV,Silva S,Troncoso M,Naviaux RK,Nyhan WL

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HPRT1 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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