LOCUS AY116537 4101 bp DNA linear HUM 18-DEC-2003
DEFINITION Homo sapiens N-acetylglutamate synthetase (NAGS) gene, complete
cds.
ACCESSION AY116537
VERSION AY116537.1
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 4101)
AUTHORS Haberle,J., Schmidt,E., Pauli,S., Kreuder,J.G., Plecko,B.,
Galler,A., Wermuth,B., Harms,E. and Koch,H.G.
TITLE Mutation analysis in patients with N-acetylglutamate synthase
deficiency
JOURNAL Hum. Mutat. 21 (6), 593-597 (2003)
PUBMED 12754705
REFERENCE 2 (bases 1 to 4101)
AUTHORS Haberle,J., Schmidt,E. and Koch,H.G.
TITLE Direct Submission
JOURNAL Submitted (29-MAY-2002) Pediatrics, University of Munster,
Albert-Schweitzer-Str. 33, Munster 48129, Germany
FEATURES Location/Qualifiers
source 1..4101
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21.31"
gene <54..>3991
/gene="NAGS"
mRNA join(<54..479,1027..1301,1414..1627,1919..2099,2713..2884,
2981..3163,3838..>3991)
/gene="NAGS"
/product="N-acetylglutamate synthetase"
CDS join(54..479,1027..1301,1414..1627,1919..2099,2713..2884,
2981..3163,3838..3991)
/gene="NAGS"
/EC_number="2.3.1.1"
/codon_start=1
/product="N-acetylglutamate synthetase"
/protein_id="AAM75385.1"
/translation="MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTS
PGRRLSTAWSQPQPPPEEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLV
QRDIQAFLNQCGASPGEARHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFA
LAFLQRMDMKPLVVLGLPAPTAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFF
GGGSVLRAAEPAPHASYGGIVSVETDLLQWCLESGSIPILCPIGETAARRSVLLDSLE
VTASLAKALRPTKIIFLNNTGGLRDSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMR
LIVDVLSRLPHHSSAVITAASTLLTELFSNKGSGTLFKNAERMLRVRSLDKLDQGRLV
DLVNASFGKKLRDDYLASLRPRLHSIYVSEGYNAAAILTMEPVLGGTPYLDKFVVSSS
RQGQGSGQMLWECLRRDLQTLFWRSRVTNPINPWYFKHSDGSFSNKQWIFFWFGLADI
RDSYELVNHAKGLPDSFHKPASDPGS"
BASE COUNT 767 a 1321 c 1330 g 683 t
ORIGIN
1 ccagacgctc cagacagact gccactcttg gggggcaaga gttggttgtc gtcatggcga
61 cggcgctgat ggctgtggtt ctgcgggcag ctgctgtagc cccgaggctg agaggccggg
121 gaggcactgg gggcgcccga aggctgagct gtggcgcgcg gcggcgggcg gcgaggggca
181 ccagcccggg gcgccggctc agcaccgcct ggtcgcagcc ccagcccccg cccgaggagt
241 acgcgggcgc ggacgacgtc tcccagtcgc ccgtcgccga ggagccgtcg tgggtgccga
301 gtcccaggcc cccggtgccc cacgagtccc cagagcctcc ttcgggccgc tcgctggtgc
361 agcgggacat ccaggccttc ctgaaccagt gcggggccag ccctggggag gcgcgccact
421 ggctcacgca gttccagacc tgccatcact ccgcggacaa gcccttcgcc gtcatcgagg
481 tgagcggagc ccggcgtggg ccgtgacgca gcgaggggat ggggttgtgc ggccacctgt
541 cctcaggcat ggcaggatac gctgcgggct ctgcgcagcg gaagcgggaa ggagcccggc
601 agggcccaga ccagcgccgc cgggaatggg agaggccgta agctcctccg gaagcctccc
661 gcccagcccg agtgaggatc ctgggggacc ccacccgcca ggtgtgatgc tctgaagaag
721 gcccccaaca tgggcgcagt taggggttca gaaggacctg gacaggagcc gcttgcactg
781 cccctccccc aaagatgtcc cggagtccaa ggtcggaggg aggagggcgg gaggtacccc
841 agcgtgagac aagggagtgg caagacccaa cggggcaaag ggcggagcag gtgggcactg
901 gtggccagaa ctgggtcctg acagcttctg gaagggtagg gtcaccgaga cggccctgca
961 ggccaggctg tgggagccag cggctcaggt ccgtgtcacg ctccttgaaa gcccactcct
1021 ccgcaggtgg acgaggaggt gctcaagtgc cagcagggcg tatccagtct ggcctttgcc
1081 ctggccttct tgcagcgcat ggacatgaag ccgctggtgg tcctggggct gccggcccct
1141 acggctccct cgggctgtct ttccttctgg gaggccaagg cgcagctggc caagagctgc
1201 aaggtgctgg tagacgcgct tcgacacaac gccgccgctg ctgtgccatt ttttggcggc
1261 gggtctgtgc tacgcgctgc cgagccggct ccccatgcca ggtgagtgcc cgccctgccc
1321 gcccaggcgt cctcagagcg tgctactctg cccgccctgc cccgtccggc aggcctggag
1381 ggggccctct cgagcaccac gtctggccca cagctacggc ggcatcgtct cggtggagac
1441 agacctgctg cagtggtgcc tggagtcggg cagcatcccc atcctgtgcc ccatcgggga
1501 gacggccgcg cgccgctccg tgcttctcga ctccctggag gtgaccgcgt cgctggccaa
1561 ggcgctgcgg cccaccaaaa tcatcttcct caataacaca ggcggcctgc gcgacagcag
1621 tcataaggtg cggccctttc tttcaccttc ccccacgccg gcgatccggg ccttctcttg
1681 cgcccctcgc acttctcccc gacgggccgc agactcacta gcaagccggg tgggtagaaa
1741 agcctaaggg agtatagggg aggagttcag ccctgggtgc ccagatctgc gccctccctg
1801 gctaaggact ccgggcggaa gtaaggataa aggggtcaga gaaaagagag gtccgtgggg
1861 gcaggggggc agtccgtgcc ggctgtgggc caggctcacc cgctgactcc ggacacaggt
1921 cctgagtaac gtgaacctgc ccgccgacct ggacctggtg tgcaacgccg agtgggtgag
1981 cacaaaagaa cggcagcaga tgcggctcat cgtggacgtg ctcagccgcc tgccccacca
2041 ctcctcggcc gtcatcaccg ccgctagcac gctgctcact gagctcttta gcaacaaggg
2101 tgagggcggt gggcgggcgg gggactgggt cccgggagtg agtactggcc ggggctgggt
2161 gtctgcggtc aggaggagcg gcttctcctc ctgtccagga gccgtagggg gaggcggggg
2221 gtgtcacagc aatggctcct gctgctgccg aaacccgggg gaggtgagag aggaggagac
2281 ccagtgtact ggaagggaac tccgaaggaa ttaaaggaat gggcgggact aggggggaga
2341 aggaggggcc ccccggtggg cggggccagg ggcgggacca taagggaggt gttcgaccag
2401 gagagatggg cggggcttag gtgggtgggc cgggtcagcg gcgggagaca gacttcaagg
2461 agcgaggcaa gactaacgga agtgggtggg gctccaggcg acaggaggaa cttggggcac
2521 aatctctgcc tggggaaagc atctccttga atgaaaatca cagacaaatc tatgcagacc
2581 actgaaatca tttcactgtg gaggtctccc aaagacggaa attgtcccac cagcgcctgt
2641 cctacctgca gtccccacca ggctgcgcaa acggccctcc agccagacta gcccctcccc
2701 atcctcctcc agggtccggg accctgttca agaacgccga gcgaatgcta cgggtgcgca
2761 gcctggacaa gctggaccag ggccgtctag tggacctggt caacgccagc ttcggcaaga
2821 agctcaggga cgactacctg gcctcgctgc gcccgcggct gcactccatc tacgtctccg
2881 aggggtaagc ctgcggaccc cagagggcgg ggtctggggg gcagtcgggc agcttcggac
2941 caaggagagg tcccagcctg ccgctctccc gctgcgccag gtacaacgcc gccgccattc
3001 tgaccatgga gcccgtcctg gggggcaccc cgtacctgga caaatttgtg gtgagctcca
3061 gccgccaggg ccaaggctcc ggccagatgc tgtgggagtg cctgcggcgg gaccttcaga
3121 cacttttctg gcgctcccgg gtcaccaacc ccatcaatcc ctggtaggtc ccgccactcc
3181 cagctctggg ctgggccctg acttccctcc cctctcccac ccttgccaac catgccaaga
3241 aggctgggct tcctcttctt ccactggtct ccctttcact acctcccagg ggcagaacac
3301 acagaaagcc tgagatttcc cgagttaaag catgcttaac actccttttc tggcagcaag
3361 tgacacctcc taacccccac gcagcccacc tctcacaggg gcctgaggaa tcctaaccct
3421 tcagggtcta ttggaggcct gcggcgcctc cagtggaaca tccctcctct ctccttcagt
3481 aactaccccc tcacccctac accctgctct gtgagcacta ggaagtgagc aagaaccctc
3541 ctctttgctg cacagccaag gcagtgtgga gagcaaagca cccgctccct tcctgtgtgc
3601 gcctggcaag gtacctaact tctctgagcc ttagctgctt ctctgtgagc tgagcatcac
3661 aatgccaggc tcaggcctct gctgtgagga taaaatgaga taacacacag caggaccaag
3721 ctgggtgccc agcatgcagt aggtcctcaa tcaatgtttt ttaaagacag aaccagtgag
3781 taatgaacac tggccttgcc ctaaaaactg tttcctacat cacctcccca cacccaggta
3841 cttcaaacac agtgatggca gcttctccaa caagcagtgg atcttcttct ggtttggcct
3901 ggctgatatc cgggactcct atgagttggt caaccacgcc aagggactgc cagactcctt
3961 tcacaagcca gcttctgacc caggcagctg accttcacca tggacactac aggccctgga
4021 atggccaggg tggaccaaaa gccatgccag ctgggcatga ccccaggcag ccagccacag
4081 gctgaagggg gcttgttggc t
//