Sequence of PH4H_HUMAN
EC Number:1.14.16.1
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
L-phenylalanine + a 5,6,7,8-tetrahydropteridine + O2 = L-tyrosine + a 4a-hydroxy-5,6,7,8-tetrahydropteridine
Other sequences found for EC No. 1.14.16.1
General information:
Sequence
0 MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK VLRLFEENDV
60 NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH DIGATVHELS RDKKKDTVPW
120 FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYM
180 EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF
240 RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA
300 QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSE
360 KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR NFAATIPRPF SVRYDPYTQR
420 IEVLDNTQQL KILADSINSE IGILCSALQK IK
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
839901
Kwok S.C.M.,Ledley F.D.,Dilella A.G.,Robson K.J.H.,Woo S.L.C.
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.
Biochemistry
24
556-561
1985
839903
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
839904
Cotton R.G.,McAdam W.,Jennings I.,Morgan F.J.
A monoclonal antibody to aromatic amino acid hydroxylases. Identification of the epitope.
Biochem. J.
255
193-196
1988
839905
Miranda F.F.,Teigen K.,Thorolfsson M.,Svebak R.M.,Knappskog P.M.,Flatmark T.,Martinez A.
Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.
J. Biol. Chem.
277
40937-40943
2002
839906
Calvo A.C.,Pey A.L.,Ying M.,Loer C.M.,Martinez A.
Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.
FASEB J.
22
3046-3058
2008
839907
Siltberg-Liberles J.,Steen I.H.,Svebak R.M.,Martinez A.
The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.
Gene
427
86-92
2008
839908
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
839909
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
839910
Erlandsen H.,Fusetti F.,Martinez A.,Hough E.,Flatmark T.,Stevens R.C.
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.
Nat. Struct. Biol.
4
995-1000
1997
839911
Erlandsen H.,Flatmark T.,Stevens R.C.,Hough E.
Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0-A resolution.
Biochemistry
37
15638-15646
1998
839912
Fusetti F.,Erlandsen H.,Flatmark T.,Stevens R.C.
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
J. Biol. Chem.
273
16962-16967
1998
839913
Erlandsen H.,Bjorgo E.,Flatmark T.,Stevens R.C.
Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase.
Biochemistry
39
2208-2217
2000
839914
Andersen O.A.,Flatmark T.,Hough E.
High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin.
J. Mol. Biol.
314
279-291
2001
839915
Konecki D.S.,Lichter-Konecki U.
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
Hum. Genet.
87
377-388
1991
839916
Cotton R.G.
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
J. Inherit. Metab. Dis.
13
739-750
1990
839917
Eisensmith R.C.,Woo S.L.C.
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Hum. Mutat.
1
13-22
1992
839918
Hoang L.,Byck S.,Prevost L.,Scriver C.R.
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
Nucleic Acids Res.
24
127-131
1996
839919
Lichter-Konecki U.,Konecki D.S.,Dilella A.G.,Brayton K.,Marvit J.,Hahn T.M.,Trefz F.K.,Woo S.L.C.
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.
Biochemistry
27
2881-2885
1988
839920
Lyonnet S.,Caillaud C.,Rey F.,Berthelon M.,Frezal J.,Rey J.,Munnich A.
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
Am. J. Hum. Genet.
44
511-517
1989
839921
Hofman K.J.,Antonarakis S.E.,Missiou-Tsangaraki S.,Boehm C.D.,Valle D.
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Mol. Biol. Med.
6
245-250
1989
839922
Svensson E.,Andersson B.,Hagenfeldt L.
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
Hum. Genet.
85
300-304
1990
839923
Dianzani I.,Forrest S.M.,Camaschella C.,Saglio G.,Ponzone A.,Cotton R.G.
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
Am. J. Hum. Genet.
48
631-635
1991
839924
Hofman K.J.,Steel G.,Kazazian H.H. Jr.,Valle D.
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
Am. J. Hum. Genet.
48
791-798
1991
839925
Okano Y.,Wang T.,Eisensmith R.C.,Longhi R.,Riva E.,Giovannini M.,Cerone R.,Romano C.,Woo S.L.C.
Phenylketonuria missense mutations in the Mediterranean.
Genomics
9
96-103
1991
839926
Dworniczak B.,Grudda K.,Stumper J.,Bartholome K.,Aulehla-Scholz C.,Horst J.
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
Genomics
9
193-199
1991
839927
Konecki D.S.,Schlotter M.,Trefz F.K.,Lichter-Konecki U.
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Hum. Genet.
87
389-393
1991
839928
Caillaud C.,Lyonnet S.,Rey F.,Melle D.,Frebourg T.,Berthelon M.,Vilarinho L.,Vaz Osorio R.,Rey J.,Munnich A.
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
J. Biol. Chem.
266
9351-9354
1991
839929
Economou-Petersen E.,Henriksen K.F.,Guldberg P.,Guettler F.
Molecular basis for nonphenylketonuria hyperphenylalaninemia.
Genomics
14
1-5
1992
839930
Lin C.H.,Hsiao K.J.,Tsai T.F.,Chao H.K.,Su T.S.
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
Hum. Genet.
89
593-596
1992
839931
Jaruzelska J.,Melle D.,Matuszak R.,Borski K.,Munnich A.
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
Hum. Mol. Genet.
1
763-764
1992
839932
Desviat L.R.,Perez B.,Ugarte M.
A new PKU mutation associated with haplotype 12.
Hum. Mol. Genet.
1
765-766
1992
839933
Guldberg P.,Henriksen K.F.,Guettler F.
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
Genomics
17
141-146
1993
839934
Abadie V.,Jaruzelska J.,Lyonnet S.,Millasseau P.,Berthelon M.,Rey F.,Munnich A.,Rey J.
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Hum. Mol. Genet.
2
31-34
1993
839935
Guldberg P.,Lou H.C.,Henriksen K.F.,Mikkelsen I.,Olsen B.,Holck B.,Guettler F.
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
Hum. Mol. Genet.
2
1061-1062
1993
839936
Goebel-Schreiner B.,Schreiner R.
Identification of a new missense mutation in Japanese phenylketonuric patients.
J. Inherit. Metab. Dis.
16
950-956
1993
839937
Guldberg P.,Henriksen K.F.,Thoeny B.,Blau N.,Guettler F.
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Genomics
21
453-455
1994
839938
Benit P.,Rey F.,Melle D.,Munnich A.,Rey J.
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Hum. Mutat.
4
229-231
1994
839939
Knappskog P.M.,Eiken H.G.,Martinez A.,Bruland O.,Apold J.,Flatmark T.
PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
Hum. Mutat.
8
236-246
1996
839940
Guldberg P.,Mallmann R.,Henriksen K.F.,Guettler F.
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Hum. Mutat.
8
276-279
1996
839941
Argiolas A.,Bosco P.,Cali F.,Ceratto N.,Anello G.,Riva E.,Biasucci G.,Carducci C.,Romano V.
Two novel PAH gene mutations detected in Italian phenylketonuric patients.
Hum. Genet.
99
275-278
1997
839942
Byck S.,Tyfield L.,Carter K.,Scriver C.R.
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
Hum. Mutat.
9
316-321
1997
839943
Waters P.J.,Parniak M.A.,Nowacki P.,Scriver C.R.
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Hum. Mutat.
11
4-17
1998
839944
Bosco P.,Cali F.,Meli C.,Mollica F.,Zammarchi E.,Cerone R.,Vanni C.,Palillo L.,Greco D.,Romano V.
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
Hum. Mutat.
11
240-243
1998
839945
de Lucca M.,Perez B.,Desviat L.R.,Ugarte M.
Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
Hum. Mutat.
11
354-359
1998
839946
Mallolas J.,Campistol J.,Lambruscini N.,Vilaseca M.A.,Cambra J.F.,Estivill X.,Milo M.
Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria.
Hum. Mutat.
11
482-482
1998
839947
Park Y.S.,Seoung C.S.,Lee S.W.,Oh K.H.,Lee D.H.,Yim J.
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
Hum. Mutat. Suppl.
1
0-0
1998
839948
Michiels L.,Francois B.,Raus J.,Vandevyver C.
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
Hum. Mutat. Suppl.
1
0-0
1998
839949
Popescu T.,Blazkova M.,Kozak L.,Jebeleanu G.,Popescu A.
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
Hum. Mutat.
12
314-319
1998
839950
Waters P.J.,Parniak M.A.,Hewson A.S.,Scriver C.R.
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene.
Hum. Mutat.
12
344-354
1998
839951
Kibayashi M.,Nagao M.,Chiba S.
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.
J. Hum. Genet.
43
231-236
1998
839952
Corsello G.,Bosco P.,Cali F.,Greco D.,Cammarata M.,Ciaccio M.,Piccione M.,Romano V.
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L).
Eur. J. Pediatr.
158
83-84
1999
839953
Hennermann J.B.,Vetter B.,Wolf C.,Windt E.,Buehrdel P.,Seidel J.,Moench E.,Kulozik A.E.
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hum. Mutat.
15
254-260
2000
839954
Gjetting T.,Petersen M.,Guldberg P.,Guettler F.
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
Am. J. Hum. Genet.
68
1353-1360
2001
839955
Acosta A.X.,Silva W.A. Jr.,Carvalho T.M.,Gomes M.,Zago M.A.
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Hum. Mutat.
17
122-130
2001
839956
Yang Y.,Drummond-Borg M.,Garcia-Heras J.
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Hum. Mutat.
17
523-523
2001
839957
Gjetting T.,Romstad A.,Haavik J.,Knappskog P.M.,Acosta A.X.,Silva W.A. Jr.,Zago M.A.,Guldberg P.,Guettler F.
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Mol. Genet. Metab.
73
280-284
2001
839958
Chen K.J.,Chao H.K.,Hsiao K.J.,Su T.S.
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
Hum. Genet.
110
235-243
2002
839959
Muntau A.C.,Roschinger W.,Habich M.,Demmelmair H.,Hoffmann B.,Sommerhoff C.P.,Roscher A.A.
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
N. Engl. J. Med.
347
2122-2132
2002
839960
Gersting S.W.,Kemter K.F.,Staudigl M.,Messing D.D.,Danecka M.K.,Lagler F.B.,Sommerhoff C.P.,Roscher A.A.,Muntau A.C.
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
Am. J. Hum. Genet.
83
5-17
2008
839961
Trunzo R.,Santacroce R.,D'Andrea G.,Longo V.,De Girolamo G.,Dimatteo C.,Leccese A.,Lillo V.,Papadia F.,Margaglione M.
Mutation analysis in Hyperphenylalaninemia patients from South Italy.
Clin. Biochem.
46
1896-1898
2013
839962
Sterl E.,Paul K.,Paschke E.,Zschocke J.,Brunner-Krainz M.,Windisch E.,Konstantopoulou V.,Moslinger D.,Karall D.,Scholl-Burgi S.,Sperl W.,Lagler F.,Plecko B.
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J. Inherit. Metab. Dis.
36
7-13
2013
839963
Groselj U.,Tansek M.Z.,Kovac J.,Hovnik T.,Podkrajsek K.T.,Battelino T.
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Mol. Genet. Metab.
106
142-148
2012
