LOCUS X55330 2150 bp mRNA linear HUM 27-JAN-1992
DEFINITION H.sapiens mRNA for aspartylglucosaminidase.
ACCESSION X55330
VERSION X55330.1
KEYWORDS AGA mRNA; aspartylglucosaminidase.
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 2150)
AUTHORS Ikonen E., Baumann M., Groen K., Syvaenen A.C., Enomaa N.,
Halila R., Aula R., Peltonen L.
TITLE Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase
and the missense mutation causing the disease
JOURNAL EMBO J. 10(1), 51-58(1991).
PUBMED 1703489
FEATURES Location/Qualifiers
source 1..2150
/db_xref="H-InvDB:HIT000321968"
/organism="Homo sapiens"
/mol_type="mRNA"
/clone_lib="lambda gt10 cDNA"
/clone="AGA1.1, AGA1.3"
/db_xref="taxon:9606"
sig_peptide 171..239
/product="aspartylglucosaminidase"
CDS 171..1211
/gene="AGA"
/product="N4-(beta-N-acetylglucosaminyl)-L- asparaginase"
/product="aspartylglucosaminidase"
/EC_number="3.5.1.26"
/db_xref="GOA:P20933"
/db_xref="H-InvDB:HIT000321968.14"
/db_xref="HGNC:HGNC:318"
/db_xref="InterPro:IPR000246"
/db_xref="InterPro:IPR029055"
/db_xref="PDB:1APY"
/db_xref="PDB:1APZ"
/db_xref="UniProtKB/Swiss-Prot:P20933"
/protein_id="CAA39029.1"
/translation="MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAW
RALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAV
GDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTSASQALHSDWLA
RNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHI
AAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYM
RRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSE
KNQPTEEKVDCI"
mat_peptide 240..1208
/gene="AGA"
/product="N4-(beta-N-acetylglucosaminyl)-L- asparaginase"
/product="aspartylglucosaminidase"
/EC_number="3.5.1.26"
regulatory 2120..2125
/regulatory_class="polyA_signal_sequence"
polyA_site 2150
BASE COUNT 633 a 400 c 445 g 672 t
ORIGIN
1 tgtattgaaa caatttaatg aaaatattaa atatttggtt tcaaaaggca gatttatctt
61 ctcccaacat tctgttattt ctgatacttt tgaaaaacta ataaaaacaa ttgttcggcg
121 atcgctggct gccgggactt ttctcgcgct ggtctcttcg gtggtcaggg atggcgcgga
181 agtcgaactt gcctgtgctt ctcgtgccgt ttctgctctg ccaggcccta gtgcgctgct
241 ccagccctct gcccctggtc gtcaacactt ggccctttaa gaatgcaacc gaagcagcgt
301 ggagggcatt agcatctgga ggctctgccc tggatgcagt ggagagcggc tgtgccatgt
361 gtgagagaga gcagtgtgac ggctctgtag gctttggagg aagtcctgat gaacttggag
421 aaaccacact agatgccatg atcatggatg gcactactat ggatgtagga gcagtaggag
481 atctcagacg aattaaaaat gctattggtg tggcacggaa agtactggaa catacaacac
541 acacactttt agtaggagag tcagccacca catttgctca aagtatgggg tttatcaatg
601 aagacttatc taccagtgct tctcaagctc ttcattcaga ttggcttgct cggaattgcc
661 agccaaatta ttggaggaat gttataccag atccctcaaa atactgcgga ccctacaaac
721 cacctggtat cttaaagcag gatattccta tccataaaga aacagaagat gatcgtggtc
781 atgacactat tggcatggtt gtaatccata agacaggaca tattgctgct ggtacatcta
841 caaatggtat aaaattcaaa atacatggcc gtgtaggaga ctcaccaata cctggagctg
901 gagcctatgc tgacgatact gcaggggcag ccgcagccac tgggaatggt gatatattga
961 tgcgcttcct gccaagctac caagctgtag aatacatgag aagaggagaa gatccaacca
1021 tagcttgcca aaaagtgatt tcaagaatcc agaagcattt tccagaattc tttggggctg
1081 ttatatgtgc caatgtgact ggaagttacg gtgctgcttg caataaactt tcaacattta
1141 ctcagtttag tttcatggtt tataattccg aaaaaaatca gccaactgag gaaaaagtgg
1201 actgcatcta atccatcttt actgtcaaca tctgtattta aagaagaaag aaacaaaggc
1261 tgaaaaggct gctcactctc atcatctagt gttcctcatg tgttctaaag tctttttgta
1321 aaataaacac aaaaataaat ttatgttgaa ttggcacttt ctatatctga aattgtatta
1381 tctattttta tttaaccttt cttatattat ctgaagatga atatgtatgt ggctgtattt
1441 tgtatatatt taagttttaa gtgacacttg gatttctgat cagtgttgca aaaaattgct
1501 actttgagat ttatttccac agtgatatat taaacccaaa aggaatcatc atatttggat
1561 gcttaaaata gagtatacaa gttttttaga cccaaagaaa aaaacatgca gagtctcagc
1621 atgatcagtc ctgattgaat ttcattatgt cacagtgatg catgtcttag cactgattat
1681 tggttttact taatatcccc taaaaacttg aggaaggaag atgatagaac atgagatact
1741 ctttgttttg tacatactag aaaatacagc tatctcctga tgagcaattg tgttgatttt
1801 ctttgctttt ttcctcttat ggagctctca gtgtgtgaaa gttctaaagc cacaagaatc
1861 aatgatgttt tagctgctaa tatttagtat tgatcgtttc ttttaaaaat gatttgggga
1921 acttgatctg tactgtaatt ttactaattc cttgtgcaga ggtgggtatg gcaattagaa
1981 gtcaagaaat gggttgttta gcttggtttg tttccctaac ttctgattaa ctctctgtat
2041 gacaactcta cagaagttgt gcgcgtgctt tctcagcagc atttttcctt caaaatcatc
2101 tttttaatca acagtcatta ataaatgtac atgtacgata ttcaaacttt
//