LOCUS AAA35903.1 346 aa PRT HUM 27-APR-1993 DEFINITION Homo sapiens glycosylasparaginase protein. ACCESSION M64073-1 PROTEIN_ID AAA35903.1 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 1048) AUTHORS Fisher,K.J. and Aronson,N.N. Jr. TITLE Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits JOURNAL J. Biol. Chem. 266 (18), 12105-12113 (1991) PUBMED 1904874 COMMENT Original source text: Human, cDNA to mRNA. FEATURES Qualifiers source /db_xref="H-InvDB:HIT000196092" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /cell_type="fibroblast" /note="Patients GM05068, GM02056, GM02057." protein /EC_number="3.5.1.26" BEGIN 1 MARKSNLPVL LVPFLLCQAL VRCSSPLPLV VNTWPFKNAT EAAWRALASG GSALDAVESG 61 CAMCEREQCD GSVGFGGSPD ELGETTLDAM IMDGTTMDVG AVGDLRRIKN AIGVARKVLE 121 HTTHTLLVGE SATTFAQSMG FINEDLSTSA SQALHSDWLA QNSQPNYWRN VIPDPSKYCG 181 PYKPPGILKQ DIPIHKETED DRGHDTIGMV VIHKTGHIAA GTSTNGIKFK IHGRVGDSPI 241 PGAGAYADDT AGAAAATGNG DILMRFLPSY QAVEYMRRGE DPTIACQKVI SRIQKHFPEF 301 FGAVICANVT GSYGAACNKL STFTQFSFMV YNSEKNQPTE EKVDCI //