LOCUS AH006112 1779 bp DNA linear HUM 28-JUL-2016
DEFINITION Homo sapiens chromosome 11 6-pyruvoyl-tetrahydropterin synthase
gene, complete cds.
ACCESSION AH006112 U63380 U63381 U63382 U63383
VERSION AH006112.2
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 1779)
AUTHORS Liu,T.T., Lu,S.F. and Hsiao,K.J.
TITLE Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and
a T/C polymorphism detected in Chinese
JOURNAL J. Biomed. Lab. Sci. 10 (1), 39-47 (1998)
REFERENCE 2 (bases 1 to 1779)
AUTHORS Liu,T.T., Lu,S.F. and Hsiao,K.J.
TITLE Direct Submission
JOURNAL Submitted (10-JUL-1996) Department of Medical Research, Veterans
General Hospital-Taipei, Peitou P.O. Box 2-207, Taipei, Taiwan
11216, Republic of China
COMMENT On or before Apr 6, 2016 this sequence version replaced U63380.1,
U63381.1, U63382.1, U63383.1, AH006112.1.
FEATURES Location/Qualifiers
source 1..1779
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q22.3-q23.3"
/cell_type="leukocyte"
mRNA join(<1..99,328..407,543..565,961..1017,1138..1208,
1407..1779)
exon <1..99
/number=1
CDS join(17..99,328..407,543..565,961..1017,1138..1208,
1407..1530)
/note="EC 4.6.1.10"
/codon_start=1
/product="6-pyruvoyl-tetrahydropterin synthase"
/protein_id="AAC16970.1"
/translation="MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCN
NPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFAD
VVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE"
intron 100..>217
/note="approx. 2.0kb"
/number=1
gap 218..317
/estimated_length=unknown
intron <318..327
/note="approx. 2.0kb"
/number=1
exon 328..407
/number=2
intron 408..>432
/note="approx. 1.6kb"
/number=2
variation 421
/note="frequencies of T allele and C allele in Chinese
were found to be 85% and 15%, respectively; among 50
Chinese individuals, 39 (78%) were T/T homozygotes, 4 (8%)
were C/C homozygotes, and 7 (14%) were T/C heterozygotes"
/replace="c"
gap 433..532
/estimated_length=unknown
intron <533..542
/note="approx. 1.6kb"
/number=2
exon 543..565
/number=3
intron 566..960
/number=3
exon 961..1017
/number=4
intron 1018..>1027
/note="approx. 2.4kb"
/number=4
gap 1028..1127
/estimated_length=unknown
intron <1128..1137
/note="approx. 2.4kb"
/number=4
exon 1138..1208
/number=5
intron 1209..1406
/number=5
exon 1407..1779
/number=6
3'UTR 1531..1779
BASE COUNT 388 a 250 c 366 g 475 t
ORIGIN
1 agacagcgcc gggaagatga gcacggaagg tggtggccgt cgctgccagg cacaagtgtc
61 ccgccgcatc tccttcagcg cgagccaccg attgtacagg tagggtgtgc acacaggtac
121 agcggcgggc ggtgggcgcc gggccccgga acgtcaccgg ggcggggccg gcgggcgtgc
181 tgacgtcggg cccgggaggg gcgcgggggc tgctgggnnn nnnnnnnnnn nnnnnnnnnn
241 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
301 nnnnnnnnnn nnnnnnnttt tggtcagtaa atttctaagt gatgaagaaa acttgaaact
361 gtttgggaaa tgcaacaatc caaatggcca tgggcacaat tataaaggtg agagaaaaac
421 tgatgacatt tcnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnctttccat
541 agttgtggtg acagtacatg gagaggtatg tgcagaaaat atttgtgtgg tttttgcaga
601 ttgctgggct ctctttcagc cagtgtggtg gattctgtgt tgaaaactgt tccagtcagt
661 attgcttcat tgttggccct tgtatatgtg tgtgtggtga gctgccgcca ttccaggcct
721 ctcctctacc aaagtgttgt ctttaatatg ctgtatgtgg acaggtagaa gggctataca
781 atgaaaagga tgcttgaagt acatggtgct tccatgctga ggtcaatgat tatctctggg
841 atgaaggcaa atgtgcaaat gtgggcacag tctctgcaca ttgtactgcc tttaataatt
901 tgccagccgt ttaatatgga gagcctatca cagtaatatt cacctttgtt tattctttag
961 attgaccctg ctacgggaat ggttatgaat ctggctgatc tcaaaaaata tatggaggta
1021 atggcatnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnttg tctctaggag
1141 gcgattatgc agccccttga tcataagaat ctggatatgg atgtgccata ctttgcagat
1201 gtggtgaggt gggtggcact gtatcttgcc ttatgtggat tgtaaaacaa gaattgattt
1261 gaatactttg attgttgtgt gatttctgaa gttttaattt aatgaaatct ttcgaaacta
1321 gaatttctat tttctgtaaa tattaaacat gaaattttat tgtttgcatt ttgaattttt
1381 tttgtttttg tttttttttc ttatagcacg actgaaaatg tagctgttta tatctgggac
1441 aacctccaga aagttcttcc tgtaggagtt ctttataaag taaaagtata cgaaactgac
1501 aataatattg tggtttataa aggagaatag ctattggggt tagcattgca caaagcccag
1561 tttctttctg tgtttgaaaa agattttgat ccccttggaa tattaagagg tcaacacgtg
1621 attgttgtac gtacacattg tgctctggag tgcctattta ttgaaatcat tgtaagacct
1681 gttataaatt taagtctatt taaaactaaa cttgtaatat acatcctgaa aatcatttag
1741 agagtctttt atttataaat taaaaatcac ttcattttc
//