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PAH cDNA ORF clone, Homo sapiens(Human)

Gene Symbol PAH
Entrez Gene ID 5053
Full Name phenylalanine hydroxylase
Synonyms PH,PKU,PKU1
General protein information
Preferred Names

phenylalanine hydroxylase

Names

phenylalanine-4-hydroxylase
phe-4-monooxygenase
phenylalanine 4-monooxygenase

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

12

12q23.2

Summary PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008].
Disorder MIM:

612349

Disorder Html: Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild],

mRNA and Protein(s)

mRNA Protein Name
XM_017019370.1 XP_016874859.1 phenylalanine-4-hydroxylase isoform X1
NM_000277.1 NP_000268.1 phenylalanine-4-hydroxylase



Pan troglodytes (chimpanzee) PAH XP_001156919.1
Rattus norvegicus (Norway rat) Pah NP_036751.2
Danio rerio (zebrafish) pah NP_956845.1
Anopheles gambiae (African malaria mosquito) AgaP_AGAP005712 XP_315722.4
Caenorhabditis elegans (roundworm) pah-1 NP_001254185.1
Xenopus tropicalis (tropical clawed frog) pah NP_001027484.1
Bos taurus (cattle) PAH NP_001039523.1
Mus musculus (house mouse) Pah NP_032803.2
Canis lupus familiaris (dog) PAH XP_532671.3
Macaca mulatta (rhesus monkey) PAH XP_001094859.1
Homo sapiens (human) PAH NP_000268.1
Gallus gallus (chicken) PAH NP_001001298.1
Drosophila melanogaster (fruit fly) Hn NP_001261542.1


Related articles in PubMed

New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
Klaassen K, Stankovic B, Kotur N, Djordjevic M, Zukic B, Nikcevic G, Ugrin M, Spasovski V, Srzentic S, Pavlovic S, Stojiljkovic M
Journal of applied genetics58(1)79-85(2017 Feb)

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N
Gene594(1)138-143(2016 Dec)

[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
Zhao D, Li X, Jia C, Ni M, Kong X
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(3)300-5(2016 Jun)

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H
Pediatrics international : official journal of the Japan Pediatric Society58(5)431-3(2016 May)

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

DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia have been characterized.
Title: DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.

Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the phenylalanine hydroxylase (PAH) gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers.
Title: New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.

The results of the in vitro residual PAH activity have major implications, both for our understanding of genotype-phenotype correlations, and thereby existing inconsistencies, but also for the elucidation of the molecular basis of tetrahydrobiopterin (BH4) responsiveness.
Title: In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

The mutation spectrum of PAH gene in Henan seems to differ from that of other regions. Independent assortment of mutant alleles may result in a complex genotype-phenotype correlation.
Title: [Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].

PAH mutation analyses provided further support for genotype-phenotype correlations in patients with hyperphenylalaninemia. The high incidence of phenylketonuria in Nagasaki, the westernmost part of Japan, might be due to migration of people with PAH mutations from China and Korea, and geographic factors.
Title: Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

The following PAH gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PAH 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.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu25787 NM_000277.1
Latest version!
Homo sapiens phenylalanine hydroxylase (PAH), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
OHu83819 XM_017019370.1
Latest version!
Homo sapiens phenylalanine hydroxylase (PAH), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 9-11 $139.30
$199.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** 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.


CloneID OHu25787
Clone ID Related Accession (Same CDS sequence) NM_000277.1
Accession Version NM_000277.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1359bp)
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 COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-25
Organism Homo sapiens(Human)
Product phenylalanine-4-hydroxylase
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U49897.1. This sequence is a reference standard in the RefSeqGene project. 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 :: U49897.1, K03020.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
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181
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361
421
481
541
601
661
721
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841
901
961
1021
1081
1141
1201
1261
1321
ATGTCCACTG CGGTCCTGGA AAACCCAGGC TTGGGCAGGA AACTCTCTGA CTTTGGACAG 
GAAACAAGCT ATATTGAAGA CAACTGCAAT CAAAATGGTG CCATATCACT GATCTTCTCA
CTCAAAGAAG AAGTTGGTGC ATTGGCCAAA GTATTGCGCT TATTTGAGGA GAATGATGTA
AACCTGACCC ACATTGAATC TAGACCTTCT CGTTTAAAGA AAGATGAGTA TGAATTTTTC
ACCCATTTGG ATAAACGTAG CCTGCCTGCT CTGACAAACA TCATCAAGAT CTTGAGGCAT
GACATTGGTG CCACTGTCCA TGAGCTTTCA CGAGATAAGA AGAAAGACAC AGTGCCCTGG
TTCCCAAGAA CCATTCAAGA GCTGGACAGA TTTGCCAATC AGATTCTCAG CTATGGAGCG
GAACTGGATG CTGACCACCC TGGTTTTAAA GATCCTGTGT ACCGTGCAAG ACGGAAGCAG
TTTGCTGACA TTGCCTACAA CTACCGCCAT GGGCAGCCCA TCCCTCGAGT GGAATACATG
GAGGAAGAAA AGAAAACATG GGGCACAGTG TTCAAGACTC TGAAGTCCTT GTATAAAACC
CATGCTTGCT ATGAGTACAA TCACATTTTT CCACTTCTTG AAAAGTACTG TGGCTTCCAT
GAAGATAACA TTCCCCAGCT GGAAGACGTT TCTCAATTCC TGCAGACTTG CACTGGTTTC
CGCCTCCGAC CTGTGGCTGG CCTGCTTTCC TCTCGGGATT TCTTGGGTGG CCTGGCCTTC
CGAGTCTTCC ACTGCACACA GTACATCAGA CATGGATCCA AGCCCATGTA TACCCCCGAA
CCTGACATCT GCCATGAGCT GTTGGGACAT GTGCCCTTGT TTTCAGATCG CAGCTTTGCC
CAGTTTTCCC AGGAAATTGG CCTTGCCTCT CTGGGTGCAC CTGATGAATA CATTGAAAAG
CTCGCCACAA TTTACTGGTT TACTGTGGAG TTTGGGCTCT GCAAACAAGG AGACTCCATA
AAGGCATATG GTGCTGGGCT CCTGTCATCC TTTGGTGAAT TACAGTACTG CTTATCAGAG
AAGCCAAAGC TTCTCCCCCT GGAGCTGGAG AAGACAGCCA TCCAAAATTA CACTGTCACG
GAGTTCCAGC CCCTGTATTA CGTGGCAGAG AGTTTTAATG ATGCCAAGGA GAAAGTAAGG
AACTTTGCTG CCACAATACC TCGGCCCTTC TCAGTTCGCT ACGACCCATA CACCCAAAGG
ATTGAGGTCT TGGACAATAC CCAGCAGCTT AAGATTTTGG CTGATTCCAT TAACAGTGAA
ATTGGAATCC TTTGCAGTGC CCTCCAGAAA ATAAAGTAA

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

RefSeq NP_000268.1
CDS473..1831
Misc Feature(1)386..388
Misc Feature(2)518..520
Misc Feature(3)530..1828
Misc Feature(4)533..802
Misc Feature(5)533..553
Misc Feature(6)order(608..619,668..679)
Misc Feature(7)827..1819
Misc Feature(8)order(884..886,1280..1282,1301..1312,1325..1327,1448..1450,1508..1510,1517..1522)
Misc Feature(9)order(1211..1213,1217..1219,1232..1234,1436..1438,1445..1447)
Misc Feature(10)order(1325..1327,1340..1342,1460..1462)
Exon (1)1..532
Exon (2)533..640
Exon (3)641..824
Exon (4)825..913
Exon (5)914..981
Exon (6)982..1178
Exon (7)1179..1314
Exon (8)1315..1384
Exon (9)1385..1441
Exon (10)1442..1537
Exon (11)1538..1671
Exon (12)1672..1787
Exon (13)1788..2680
Translation

Target ORF information:

RefSeq Version NM_000277.1
Organism Homo sapiens(Human)
Definition Homo sapiens phenylalanine hydroxylase (PAH), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000277.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
ATGTCCACTG CGGTCCTGGA AAACCCAGGC TTGGGCAGGA AACTCTCTGA CTTTGGACAG 
GAAACAAGCT ATATTGAAGA CAACTGCAAT CAAAATGGTG CCATATCACT GATCTTCTCA
CTCAAAGAAG AAGTTGGTGC ATTGGCCAAA GTATTGCGCT TATTTGAGGA GAATGATGTA
AACCTGACCC ACATTGAATC TAGACCTTCT CGTTTAAAGA AAGATGAGTA TGAATTTTTC
ACCCATTTGG ATAAACGTAG CCTGCCTGCT CTGACAAACA TCATCAAGAT CTTGAGGCAT
GACATTGGTG CCACTGTCCA TGAGCTTTCA CGAGATAAGA AGAAAGACAC AGTGCCCTGG
TTCCCAAGAA CCATTCAAGA GCTGGACAGA TTTGCCAATC AGATTCTCAG CTATGGAGCG
GAACTGGATG CTGACCACCC TGGTTTTAAA GATCCTGTGT ACCGTGCAAG ACGGAAGCAG
TTTGCTGACA TTGCCTACAA CTACCGCCAT GGGCAGCCCA TCCCTCGAGT GGAATACATG
GAGGAAGAAA AGAAAACATG GGGCACAGTG TTCAAGACTC TGAAGTCCTT GTATAAAACC
CATGCTTGCT ATGAGTACAA TCACATTTTT CCACTTCTTG AAAAGTACTG TGGCTTCCAT
GAAGATAACA TTCCCCAGCT GGAAGACGTT TCTCAATTCC TGCAGACTTG CACTGGTTTC
CGCCTCCGAC CTGTGGCTGG CCTGCTTTCC TCTCGGGATT TCTTGGGTGG CCTGGCCTTC
CGAGTCTTCC ACTGCACACA GTACATCAGA CATGGATCCA AGCCCATGTA TACCCCCGAA
CCTGACATCT GCCATGAGCT GTTGGGACAT GTGCCCTTGT TTTCAGATCG CAGCTTTGCC
CAGTTTTCCC AGGAAATTGG CCTTGCCTCT CTGGGTGCAC CTGATGAATA CATTGAAAAG
CTCGCCACAA TTTACTGGTT TACTGTGGAG TTTGGGCTCT GCAAACAAGG AGACTCCATA
AAGGCATATG GTGCTGGGCT CCTGTCATCC TTTGGTGAAT TACAGTACTG CTTATCAGAG
AAGCCAAAGC TTCTCCCCCT GGAGCTGGAG AAGACAGCCA TCCAAAATTA CACTGTCACG
GAGTTCCAGC CCCTGTATTA CGTGGCAGAG AGTTTTAATG ATGCCAAGGA GAAAGTAAGG
AACTTTGCTG CCACAATACC TCGGCCCTTC TCAGTTCGCT ACGACCCATA CACCCAAAGG
ATTGAGGTCT TGGACAATAC CCAGCAGCTT AAGATTTTGG CTGATTCCAT TAACAGTGAA
ATTGGAATCC TTTGCAGTGC CCTCCAGAAA ATAAAGTAA

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

CloneID OHu83819
Clone ID Related Accession (Same CDS sequence) XM_017019370.1
Accession Version XM_017019370.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 723bp)
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 2016-06-06
Organism Homo sapiens(Human)
Product phenylalanine-4-hydroxylase isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
ATGTCCACTG CGGTCCTGGA AAACCCAGGC TTGGGCAGGA AACTCTCTGA CTTTGGACAG 
GAAACAAGCT ATATTGAAGA CAACTGCAAT CAAAATGGTG CCATATCACT GATCTTCTCA
CTCAAAGAAG AAGTTGGTGC ATTGGCCAAA GTATTGCGCT TATTTGAGGA GAATGATGTA
AACCTGACCC ACATTGAATC TAGACCTTCT CGTTTAAAGA AAGATGAGTA TGAATTTTTC
ACCCATTTGG ATAAACGTAG CCTGCCTGCT CTGACAAACA TCATCAAGAT CTTGAGGCAT
GACATTGGTG CCACTGTCCA TGAGCTTTCA CGAGATAAGA AGAAAGACAC AGTGCCCTGG
TTCCCAAGAA CCATTCAAGA GCTGGACAGA TTTGCCAATC AGATTCTCAG CTATGGAGCG
GAACTGGATG CTGACCACCC TGGTTTTAAA GATCCTGTGT ACCGTGCAAG ACGGAAGCAG
TTTGCTGACA TTGCCTACAA CTACCGCCAT GGGCAGCCCA TCCCTCGAGT GGAATACATG
GAGGAAGAAA AGAAAACATG GGGCACAGTG TTCAAGACTC TGAAGTCCTT GTATAAAACC
CATGCTTGCT ATGAGTACAA TCACATTTTT CCACTTCTTG AAAAGTACTG TGGCTTCCAT
GAAGATAACA TTCCCCAGCT GGAAGACGTT TCTCAGTTCC TGCAGATTCC TGCTGTGTTA
TGA

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

RefSeq XP_016874859.1
CDS116..838
Translation

Target ORF information:

RefSeq Version XM_017019370.1
Organism Homo sapiens(Human)
Definition Homo sapiens phenylalanine hydroxylase (PAH), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017019370.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
ATGTCCACTG CGGTCCTGGA AAACCCAGGC TTGGGCAGGA AACTCTCTGA CTTTGGACAG 
GAAACAAGCT ATATTGAAGA CAACTGCAAT CAAAATGGTG CCATATCACT GATCTTCTCA
CTCAAAGAAG AAGTTGGTGC ATTGGCCAAA GTATTGCGCT TATTTGAGGA GAATGATGTA
AACCTGACCC ACATTGAATC TAGACCTTCT CGTTTAAAGA AAGATGAGTA TGAATTTTTC
ACCCATTTGG ATAAACGTAG CCTGCCTGCT CTGACAAACA TCATCAAGAT CTTGAGGCAT
GACATTGGTG CCACTGTCCA TGAGCTTTCA CGAGATAAGA AGAAAGACAC AGTGCCCTGG
TTCCCAAGAA CCATTCAAGA GCTGGACAGA TTTGCCAATC AGATTCTCAG CTATGGAGCG
GAACTGGATG CTGACCACCC TGGTTTTAAA GATCCTGTGT ACCGTGCAAG ACGGAAGCAG
TTTGCTGACA TTGCCTACAA CTACCGCCAT GGGCAGCCCA TCCCTCGAGT GGAATACATG
GAGGAAGAAA AGAAAACATG GGGCACAGTG TTCAAGACTC TGAAGTCCTT GTATAAAACC
CATGCTTGCT ATGAGTACAA TCACATTTTT CCACTTCTTG AAAAGTACTG TGGCTTCCAT
GAAGATAACA TTCCCCAGCT GGAAGACGTT TCTCAGTTCC TGCAGATTCC TGCTGTGTTA
TGA

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

book

New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.
Journal of applied genetics58(1)79-85(2017 Feb)
Klaassen K,Stankovic B,Kotur N,Djordjevic M,Zukic B,Nikcevic G,Ugrin M,Spasovski V,Srzentic S,Pavlovic S,Stojiljkovic M


book

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Gene594(1)138-143(2016 Dec)
Trunzo R,Santacroce R,Shen N,Jung-Klawitter S,Leccese A,De Girolamo G,Margaglione M,Blau N


book

[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(3)300-5(2016 Jun)
Zhao D,Li X,Jia C,Ni M,Kong X


book

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Pediatrics international : official journal of the Japan Pediatric Society58(5)431-3(2016 May)
Dateki S,Watanabe S,Nakatomi A,Kinoshita E,Matsumoto T,Yoshiura K,Moriuchi H


 
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