LOCUS HSU49897 2680 bp mRNA linear HUM 02-OCT-1997
DEFINITION Homo sapiens phenylalanine hydroxylase (PAH) mRNA, complete cds.
ACCESSION U49897
VERSION U49897.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2680)
AUTHORS Konecki,D.S., Wang,Y., Trefz,F.K., Lichter-Konecki,U. and Woo,S.L.
TITLE Structural characterization of the 5' regions of the human
phenylalanine hydroxylase gene
JOURNAL Biochemistry 31 (35), 8363-8368 (1992)
PUBMED 1326329
REFERENCE 2 (bases 1 to 2680)
AUTHORS Nowacki,P., Byck,S., Prevost,L. and Scriver,C.R.
TITLE The PAH mutation analysis consortium database: update 1996
JOURNAL Nucleic Acids Res. 25 (1), 139-142 (1997)
PUBMED 9016524
REFERENCE 3 (bases 1 to 2680)
AUTHORS Scriver,C., Nowacki,P.M., Byck,S. and Prevost,L.
TITLE Direct Submission
JOURNAL Submitted (26-FEB-1996) Charles Scriver, Debelle Laboratory for
Biochemical Genetics, McGill University-Montreal Children's
Hospital Research Institute, 2300 Tupper St., Montreal, Quebec H3H
1P3, Canada
REFERENCE 4 (bases 1 to 2680)
AUTHORS Scriver,C., Nowacki,P.M., Byck,S. and Prevost,L.
TITLE Direct Submission
JOURNAL Submitted (30-SEP-1997) Charles Scriver, Debelle Laboratory for
Biochemical Genetics, McGill University-Montreal Children's
Hospital Research Institute, 2300 Tupper St., Montreal, Quebec H3H
1P3, Canada
REMARK Sequence update by submitter
COMMENT On Oct 2, 1997 this sequence version replaced gi:2447212.
FEATURES Location/Qualifiers
source 1..2680
/db_xref="H-InvDB:HIT000220124"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q22-q2401"
gene 1..2680
/gene="PAH"
5'UTR 1..472
/gene="PAH"
CDS 473..1831
/gene="PAH"
/EC_number="1.14.16.1"
/codon_start=1
/product="phenylalanine hydroxylase"
/protein_id="AAC51772.1"
/translation="MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEE
VGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI
GATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCG
FHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPM
YTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLC
KQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESF
NDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQK
IK"
misc_feature 473
/gene="PAH"
/note="for mutation nomenclature purposes the #1 'a' of
the atg codon is located at this position of the sequence"
3'UTR 1832..2680
/gene="PAH"
polyA_site 2680
/gene="PAH"
/note="18 A nucleotides"
BASE COUNT 762 a 616 c 566 g 736 t
ORIGIN
1 cagctggggg taaggggggc ggattattca tataattgtt ataccagacg gtcgcaggct
61 tagtccaatt gcagagaact cgcttcccag gcttctgaga gtcccggaag tgcctaaacc
121 tgtctaatcg acggggcttg ggtggcccgt cgctccctgg cttcttccct ttacccaggg
181 cgggcagcga agtggtgcct cctgcgtccc ccacaccctc cctcagcccc tcccctccgg
241 cccgtcctgg gcaggtgacc tggagcatcc ggcaggctgc cctggcctcc tgcgtcagga
301 caagcccacg aggggcgtta ctgtgcggag atgcaccacg caagagacac cctttgtaac
361 tctcttctcc tccctagtgc gaggttaaaa ccttcagccc cacgtgctgt ttgcaaacct
421 gcctgtacct gaggccctaa aaagccagag acctcactcc cggggagcca gcatgtccac
481 tgcggtcctg gaaaacccag gcttgggcag gaaactctct gactttggac aggaaacaag
541 ctatattgaa gacaactgca atcaaaatgg tgccatatca ctgatcttct cactcaaaga
601 agaagttggt gcattggcca aagtattgcg cttatttgag gagaatgatg taaacctgac
661 ccacattgaa tctagacctt ctcgtttaaa gaaagatgag tatgaatttt tcacccattt
721 ggataaacgt agcctgcctg ctctgacaaa catcatcaag atcttgaggc atgacattgg
781 tgccactgtc catgagcttt cacgagataa gaagaaagac acagtgccct ggttcccaag
841 aaccattcaa gagctggaca gatttgccaa tcagattctc agctatggag cggaactgga
901 tgctgaccac cctggtttta aagatcctgt gtaccgtgca agacggaagc agtttgctga
961 cattgcctac aactaccgcc atgggcagcc catccctcga gtggaataca tggaggaaga
1021 aaagaaaaca tggggcacag tgttcaagac tctgaagtcc ttgtataaaa cccatgcttg
1081 ctatgagtac aatcacattt ttccacttct tgaaaagtac tgtggcttcc atgaagataa
1141 cattccccag ctggaagacg tttctcaatt cctgcagact tgcactggtt tccgcctccg
1201 acctgtggct ggcctgcttt cctctcggga tttcttgggt ggcctggcct tccgagtctt
1261 ccactgcaca cagtacatca gacatggatc caagcccatg tatacccccg aacctgacat
1321 ctgccatgag ctgttgggac atgtgccctt gttttcagat cgcagctttg cccagttttc
1381 ccaggaaatt ggccttgcct ctctgggtgc acctgatgaa tacattgaaa agctcgccac
1441 aatttactgg tttactgtgg agtttgggct ctgcaaacaa ggagactcca taaaggcata
1501 tggtgctggg ctcctgtcat cctttggtga attacagtac tgcttatcag agaagccaaa
1561 gcttctcccc ctggagctgg agaagacagc catccaaaat tacactgtca cggagttcca
1621 gcccctgtat tacgtggcag agagttttaa tgatgccaag gagaaagtaa ggaactttgc
1681 tgccacaata cctcggccct tctcagttcg ctacgaccca tacacccaaa ggattgaggt
1741 cttggacaat acccagcagc ttaagatttt ggctgattcc attaacagtg aaattggaat
1801 cctttgcagt gccctccaga aaataaagta aagccatgga cagaatgtgg tctgtcagct
1861 gtgaatctgt tgatggagat ccaactattt ctttcatcag aaaaagtccg aaaagcaaac
1921 cttaatttga aataacagcc ttaaatcctt tacaagatgg agaaacaaca aataagtcaa
1981 aataatctga aatgacagga tatgagtaca tactcaagag cataatggta aatcttttgg
2041 ggtcatcttt gatttagaga tgataatccc atactctcaa ttgagttaaa tcagtaatct
2101 gtcgcatttc atcaagatta attaaaattt gggacctgct tcattcaagc ttcatatatg
2161 ctttgcagag aactcataaa ggagcatata aggctaaatg taaaacacaa gactgtcatt
2221 agaattgaat tattgggctt aatataaatc gtaacctatg aagtttattt tctattttag
2281 ttaactatga ttccaattac tactttgtta ttgtacctaa gtaaattttc tttaggtcag
2341 aagcccatta aaatagttac aagcattgaa cttctttagt attatattaa tataaaaaca
2401 tttttgtatg ttttattgta atcataaata ctgctgtata aggtaataaa actctgcacc
2461 taatccccat aacttccagt atcattttcc aattaattat caagtctgtt ttgggaaaca
2521 ctttgaggac atttatgatg cagcagatgt tgactaaagg cttggttggt agatattcag
2581 gaaatgttca ctgaataaat aagtaaatac attattgaaa agcaaatctg tataaatgtg
2641 aaatttttat ttgtattagt aataaaacat tagtagttta
//