GenBank-Updates@genbank.bio.net (04/16/91)
LOCUS HUMPHH 2429 bp ss-mRNA PRI 16-APR-1991
DEFINITION Human phenylalanine hydroxylase mRNA, complete cds.
ACCESSION K03020
KEYWORDS phenylalanine 4-monooxygenase; phenylalanine hydroxylase;
phosphoprotein.
SOURCE Human liver, cDNA to mRNA, clone phPAH247.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 2429)
AUTHORS Kwok,S.C., Ledley,F.D., DiLella,A.G., Robson,K.J. and Woo,S.L.
TITLE Nucleotide sequence of a full-length complementary DNA clone and
amino acid sequence of human phenylalanine hydroxylase
JOURNAL Biochemistry 24, 556-561 (1985)
STANDARD full staff_review
REFERENCE 2 (sites)
AUTHORS DiLella,A.G., Marvit,J., Brayton,K. and Woo,S.L.
TITLE An amino-acid substitution involved in phenylketonuria is in
linkage disequilibrium with DNA haplotype 2
JOURNAL Nature 327, 333-336 (1987)
STANDARD full staff_review
REFERENCE 3 (sites)
AUTHORS Wang,T., Okano,Y., Eisensmith,R.C., Harvey,M.L., Lo,W.H.,
Huang,S.-Z., Zeng,Y.-T., Yuan,L.-F., Furuyama,J.-I., Oura,T.,
Sommer,S.S. and Woo,S.L.
TITLE Founder effect of a prevalent phenylketonuria mutation in the
oriental popluation
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88, 2146-2150 (1991)
STANDARD full staff_review
COMMENT
[Nature 327, 333-336 (1987)] sites; mutation causing
phenylketonuria.
At positions 105-114 a sequence 'tcgttaccgc' has partial homology
to the 3' end of the 18S ribosomal RNA and may function as a
recognition site for binding the 18S ribosomal RNA during
translation. Two inverted repeats (positions 44-56 and 108-120)
could be involved in a stable stem-loop structure. Poly-A signals
are located at nucleotides 2195-2200, 2344-2349 and 2411-2416. The
AA consensus phosphorylation site, retaining the determinants
common to substrates of the cAMP-dependent protein kinase, is
preserved in the human AA sequence as compared to that of the rat.
The mutation causing phenylketonuria replaces an arginine with a
tryptophan at residue 408 of phenylalanine hydroxylase [Nature 327,
333-336 (1987)].
FEATURES Location/Qualifiers
mRNA <1..2429
/note="phh mRNA"
CDS 223..1581
/note="phenylalanine hydroxylase (EC 1.14.16.1)"
mutation 1444..1444
/note="c in wt/t in phenylketonuria mutant"
BASE COUNT 720 a 514 c 501 g 694 t
ORIGIN 176 bp upstream of RsaI site.
1 cttcatcgtc gtccaactga ccttgagtgt tagtttcgcg gtaagtttgg gtataagtgc
61 caccaccagt gccggcagtg tagtcagtag tttgttgctg gaagtcgtta ccgccaaact
121 gcgtgttacc gcctagatta gactgtggct gctggcgttg agggaaacct gcctgtacgt
181 gaggccctaa aaagccagag acctcactcc cggggagcca gcatgtccac tgcggtcctg
241 gaaaacccag gcttgggcag gaaactctct gactttggac aggaaacaag ctatattgaa
301 gacaactgca atcaaaatgg tgccatatca ctgatcttct cactcaaaga agaagttggt
361 gcattggcca aagtattgcg cttatttgag gagaatgatg taaacctgac ccacattgaa
421 tctagacctt ctcgtttaaa gaaagatgag tatgaatttt tcacccattt ggataaacgt
481 agcctgcctg ctctgacaaa catcatcaag atcttgaggc atgacattgg tgccactgtc
541 catgagcttt cacgagataa gaagaaagac acagtgccct ggttcccaag aaccattcaa
601 gagctggaca gatttgccaa tcagattctc agctatggag cggaactgga tgctgaccac
661 cctggtttta aagatcctgt gtaccgtgca agacggaagc agtttgctga cattgcctac
721 aactaccgcc atgggcagcc catccctcga gtggaataca tggaggaaga aaagaaaaca
781 tggggcacag tgttcaagac tctgaagtcc ttgtataaaa cccatgcttg ctatgagtac
841 aatcacattt ttccacttct tgaaaagtac tgtggcttcc atgaagataa cattccccag
901 ctggaagacg tttctcaatt cctgcagact tgcactggtt tccgcctccg acctgtggct
961 ggcctgcttt cctctcggga tttcttgggt ggcctggcct tccgagtctt ccactgcaca
1021 cagtacatca gacatggatc caagcccatg tatacccccg aacctgacat ctgccatgag
1081 ctgttgggac atgtgccctt gttttcagat cgcagctttg cccagttttc ccaggaaatt
1141 ggccttgcct ctctgggtgc acctgatgaa tacattgaaa agctcgccac aatttactgg
1201 tttactgtgg agtttgggct ctgcaaacaa ggagactcca taaaggcata tggtgctggg
1261 ctcctgtcat cctttggtga attacagtac tgcttatcag agaagccaaa gcttctcccc
1321 ctggagctgg agaagacagc catccaaaat tacactgtca cggagttcca gcccctgtat
1381 tacgtggcag agagttttaa tgatgccaag gagaaagtaa ggaactttgc tgccacaata
1441 cctcggccct tctcagttcg ctacgaccca tacacccaaa ggattgaggt cttggacaat
1501 acccagcagc ttaagatttt ggctgattcc attaacagtg aaattggaat cctttgcagt
1561 gccctccaga aaataaagta aagccatgga cagaatgtgg tctgtcagct gtgaatctgt
1621 tgatggagat ccaactattt ctttcatcag aaaaagtccg aaaagcaaac cttaatttga
1681 aataacagcc ttaaatcctt tacaagatgg agaaacaaca aataagtcaa aataatctga
1741 aatgacagga tatgagtaca tactcaagag cataatggta aatcttttgg ggtcatcttt
1801 gatttagaga tgataatccc atactctcaa ttgagttaaa tcagtaatct gtcgcatttc
1861 atcaagatta attaaaattt gggacctgct tcattcaagc ttcatatatg ctttgcagag
1921 aactcataaa ggagcatata aggctaaatg taaaacacaa gactgtcatt agaattgaat
1981 tattgggctt aatataaatc gtaacctatg aagtttattt tctattttag ttaactatga
2041 ttccaattac tactttgtta ttgtacctaa gtaaattttc tttaggtcag aagcccatta
2101 aaatagttac aagcattgaa cttctttagt attatattaa tataaaaaca tttttgtatg
2161 ttttattgta atcataaata ctgctgtata aggtaataaa actctgcacc taatccccat
2221 aacttccagt atcattttcc aattaattat caagtctgtt ttgggaaaca ctttgaggac
2281 atttatgatg cagcagatgt tgactaaagg cttggttggt agatattcag gaaatgttca
2341 ctgaataaat aagtaaatac attattgaaa agcaaatctg tataaatgtg aaatttttat
2401 ttgtattagt aataaaacat tagtagttt
//