LOCUS HUMGLYCQ 1048 bp mRNA linear HUM 27-APR-1993
DEFINITION Human glycosylasparaginase mRNA, complete cds.
ACCESSION M64073
VERSION M64073.1
KEYWORDS glycosylasparaginase.
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 Location/Qualifiers
source 1..1048
/db_xref="H-InvDB:HIT000196092"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/cell_type="fibroblast"
/note="Patients GM05068, GM02056, GM02057."
CDS 4..1044
/EC_number="3.5.1.26"
/codon_start=1
/product="glycosylasparaginase"
/protein_id="AAA35903.1"
/translation="MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAW
RALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAV
GDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTSASQALHSDWLA
QNSQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHI
AAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYM
RRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSE
KNQPTEEKVDCI"
sig_peptide 4..72
mat_peptide 70..1041
/product="glycosylasparaginase"
/EC_number="3.5.1.26"
variation 485
variation 491
BASE COUNT 300 a 229 c 257 g 262 t
ORIGIN 4q21-ter.
1 gggatggcgc ggaagtcgaa cttgcctgtg cttctcgtgc cgtttctgct ctgccaggcc
61 ctagtgcgct gctccagccc tctgcccctg gtcgtcaaca cttggccctt taagaatgca
121 accgaagcag cgtggagggc attagcatct ggaggctctg ccctggatgc agtggagagc
181 ggctgtgcca tgtgtgagag agagcagtgt gacggctctg taggctttgg aggaagtcct
241 gatgaacttg gagaaaccac actagatgcc atgatcatgg atggcactac tatggatgta
301 ggagcagtag gagatctcag acgaattaaa aatgctattg gtgtggcacg gaaagtactg
361 gaacatacaa cacacacact tttagtagga gagtcagcca ccacatttgc tcaaagtatg
421 gggtttatca atgaagactt atctaccagt gcttctcaag ctcttcattc agattggctt
481 gctcagaatt cccagccaaa ttattggagg aatgttatac cagatccctc aaaatactgc
541 ggaccctaca aaccacctgg tatcttaaag caggatattc ctatccataa agaaacagaa
601 gatgatcgtg gtcatgacac tattggcatg gttgtaatcc ataagacagg acatattgct
661 gctggtacat ctacaaatgg tataaaattc aaaatacatg gccgtgtagg agactcacca
721 atacctggag ctggagccta tgctgacgat actgcagggg cagccgcagc cactgggaat
781 ggtgatatat tgatgcgctt cctgccaagc taccaagctg tagaatacat gagaagagga
841 gaagatccaa ccatagcttg ccaaaaagtg atttcaagaa tccagaagca ttttccagaa
901 ttctttgggg ctgttatatg tgccaatgtg actggaagtt acggtgctgc ttgcaataaa
961 ctttcaacat ttactcagtt tagtttcatg gtttataatt ccgaaaaaaa tcagccaact
1021 gaggaaaaag tggactgcat ctaatcca
//