LOCUS AF040958 1894 bp mRNA linear HUM 16-JAN-1998
DEFINITION Homo sapiens lysosomal neuraminidase precursor, mRNA, complete cds.
ACCESSION AF040958
VERSION AF040958.1
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 1894)
AUTHORS Bonten,E., van der Spoel,A., Fornerod,M., Grosveld,G. and d'Azzo,A.
TITLE Characterization of human lysosomal neuraminidase defines the
molecular basis of the metabolic storage disorder sialidosis
JOURNAL Genes Dev. 10 (24), 3156-3169 (1996)
PUBMED 8985184
REFERENCE 2 (bases 1 to 1894)
AUTHORS Bonten,E.J., van der Spoel,A.C., Fornerod,M., Grosveld,G. and
d'Azzo,A.
TITLE Direct Submission
JOURNAL Submitted (02-JAN-1998) Genetics, St. Jude Children's Research
Hospital, 332 North Lauderdale, Memphis, TN 38105, USA
FEATURES Location/Qualifiers
source 1..1894
/db_xref="H-InvDB:HIT000063627_09"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21"
/clone="IMAGE clone 26525"
/tissue_type="brain"
/dev_stage="infant"
CDS 130..1377
/function="hydrolysis of oligosaccharides, gangliosides,
glycolipids, and glycoproteins by removing their terminal
sialic acid residues"
/note="hydrolytic enzyme of the sialidase family;
preference for alpha 2-3 and alpha 2-6 sialyl linkage"
/codon_start=1
/product="lysosomal neuraminidase precursor"
/protein_id="AAB96774.1"
/translation="MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASW
SKAENDFGLVQPLVTMEQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSS
DEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAH
KAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVC
GHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVV
INARNQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSN
PAHPEFRVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVL
YEKGRNHYTESISVAKISVYGTL"
sig_peptide 130..264
mat_peptide 265..1374
/product="lysosomal neuraminidase"
BASE COUNT 399 a 516 c 552 g 427 t
ORIGIN
1 cgggaagcgc ggcggggcct ccagaccggg gcgggcttaa gggtgacatc tgcgctttaa
61 agggtccggg tcagctgact cccgactctg tggagtctag ctgccagggt cgcggcagtg
121 cggggagaga tgactgggga gcgacccagc acggcgctcc cggacagacg ctgggggccg
181 cggattctgg gcttctgggg aggctgtagg gtttgggtgt ttgccgcgat cttcctgctg
241 ctgtctctgg cagcctcctg gtccaaggct gagaacgact tcggtctggt gcagccgctg
301 gtgaccatgg agcaactgct gtgggtgagc gggagacaga tcggctcagt ggacaccttc
361 cgcatcccgc tcatcacagc cactccgcgg ggcactcttc tcgcctttgc tgaggcgagg
421 aaaatgtcct catccgatga gggggccaag ttcatcgccc tgcggaggtc catggaccag
481 ggcagcacat ggtctcctac agcgttcatt gtcaatgatg gggatgtccc cgatgggctg
541 aaccttgggg cagtagtgag cgatgttgag acaggagtag tatttctttt ctactccctt
601 tgtgctcaca aggccggctg ccaggtggcc tctaccatgt tggtatggag caaggatgat
661 ggtgtttcct ggagcacacc ccggaatctc tccctggata ttggcactga agtgtttgcc
721 cctggaccgg gctctggtat tcagaaacag cgggagccac ggaagggccg cctcatcgtg
781 tgtggccatg ggacgctgga gcgggacgga gtcttctgtc tcctcagcga tgatcatggt
841 gcctcctggc gctacggaag tggggtcagc ggcatcccct acggtcagcc caagcaggaa
901 aatgatttca atcctgatga atgccagccc tatgagctcc cagatggctc agtcgtcatc
961 aatgcccgaa accagaacaa ctaccactgc cactgccgaa ttgtcctccg cagctatgat
1021 gcctgtgata cactaaggcc ccgtgatgtg accttcgacc ctgagctcgt ggaccctgtg
1081 gtagctgcag gagctgtagt caccagctcc ggcattgtct tcttctccaa cccagcacat
1141 ccagagttcc gagtgaacct gaccctgcga tggagcttca gcaatggtac ctcatggcgg
1201 aaagagacag tccagctatg gccaggcccc agtggctatt catccctggc aaccctggag
1261 ggcagcatgg atggagagga gcaggccccc cagctctacg tcctgtatga gaaaggccgg
1321 aaccactaca cagagagcat ctccgtggcc aaaatcagtg tctatgggac actctgagct
1381 gtgccactgc cacaggggta ttctgccttc aggactctgc cttcaggaac acgggtctgt
1441 agagggtctg ctggagacgc ctgaaagaca gttccatctt cctttagact ccagccttgg
1501 caaaatcacc ttccctttac cagggaaatc acttccttta ggactgaaag ctaggcgtcc
1561 tctcccacaa aaaagtcctg ccctcatctg agaatactgt ctttccatat ggctaagtgt
1621 ggccccacca ccctctctgc ctcccgggac attgattggt cctgtcttgg gcaggtctag
1681 tgagctgtag aattgaatca atgtgaactc agggaactgg ggaaggctga gcctcctctt
1741 tggtgttgcg gtaagataac cgacagggct ggtgaaagtc cccagatggc aggatatttg
1801 gtttcagagt aaggactagg tgcaccacca tgactgacta tcaatcaaaa tgtttgtaac
1861 ttaaaatttt taatgaagga taatgaatat ttta
//