LOCUS       AAM75385.1               534 aa    PRT              HUM 18-DEC-2003
DEFINITION  Homo sapiens N-acetylglutamate synthetase protein.
ACCESSION   AY116537-1
PROTEIN_ID  AAM75385.1
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             Qualifiers
     source          /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     protein         /gene="NAGS"
                     /EC_number="2.3.1.1"
     intron_pos      143:0 (1/6)
     intron_pos      234:2 (2/6)
     intron_pos      306:0 (3/6)
     intron_pos      366:1 (4/6)
     intron_pos      423:2 (5/6)
     intron_pos      484:2 (6/6)
BEGIN
        1 MATALMAVVL RAAAVAPRLR GRGGTGGARR LSCGARRRAA RGTSPGRRLS TAWSQPQPPP
       61 EEYAGADDVS QSPVAEEPSW VPSPRPPVPH ESPEPPSGRS LVQRDIQAFL NQCGASPGEA
      121 RHWLTQFQTC HHSADKPFAV IEVDEEVLKC QQGVSSLAFA LAFLQRMDMK PLVVLGLPAP
      181 TAPSGCLSFW EAKAQLAKSC KVLVDALRHN AAAAVPFFGG GSVLRAAEPA PHASYGGIVS
      241 VETDLLQWCL ESGSIPILCP IGETAARRSV LLDSLEVTAS LAKALRPTKI IFLNNTGGLR
      301 DSSHKVLSNV NLPADLDLVC NAEWVSTKER QQMRLIVDVL SRLPHHSSAV ITAASTLLTE
      361 LFSNKGSGTL FKNAERMLRV RSLDKLDQGR LVDLVNASFG KKLRDDYLAS LRPRLHSIYV
      421 SEGYNAAAIL TMEPVLGGTP YLDKFVVSSS RQGQGSGQML WECLRRDLQT LFWRSRVTNP
      481 INPWYFKHSD GSFSNKQWIF FWFGLADIRD SYELVNHAKG LPDSFHKPAS DPGS
//