LOCUS AF051852 2388 bp mRNA linear HUM 26-MAY-1999
DEFINITION Homo sapiens UDP-N-acetylglucosamine-2-epimerase mRNA, complete
cds.
ACCESSION AF051852
VERSION AF051852.1
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 2388)
AUTHORS Seppala,R., Lehto,V.P. and Gahl,W.A.
TITLE Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene
define the disease sialuria and the allosteric site of the enzyme
JOURNAL Am. J. Hum. Genet. 64 (6), 1563-1569 (1999)
PUBMED 10330343
REFERENCE 2 (bases 1 to 2388)
AUTHORS Seppala,R., Lehto,V.P. and Gahl,W.A.
TITLE Direct Submission
JOURNAL Submitted (28-FEB-1998) HDB, NICHD, National Institutes of Health,
10 Center Drive, Bethesda, MD 20892, USA
FEATURES Location/Qualifiers
source 1..2388
/db_xref="H-InvDB:HIT000064272"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 51..2219
/codon_start=1
/product="UDP-N-acetylglucosamine-2-epimerase"
/protein_id="AAD32251.1"
/translation="MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVV
VLGSHLIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRL
KPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCC
TRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVAL
QHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNF
RAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHV
RDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPV
KENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLIL
QMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTL
HLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAE
LGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGA
LHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDV
IRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY"
BASE COUNT 639 a 537 c 587 g 625 t
ORIGIN
1 cggcgtctgg aactctattt tagaacctct caaaacgaaa caagcaaatc atggagaaga
61 atggaaataa ccgaaagctg cgggtttgtg ttgctacttg taaccgtgca gattattcta
121 aacttgcccc gatcatgttt ggcattaaaa ccgaacctga gttctttgaa cttgatgttg
181 tggtacttgg ctctcacctg atagatgact atggaaatac atatcgaatg attgaacaag
241 atgactttga cattaacacc aggctacaca caattgtgag gggagaagat gaggcagcca
301 tggtggagtc agtaggcctg gccctagtga agctgccaga tgtccttaat cgcctgaagc
361 ctgatatcat gattgttcat ggagacaggt ttgatgccct ggctctggcc acatctgctg
421 ccttgatgaa catccgaatc cttcacattg aaggtgggga agtcagtggg accattgatg
481 actctatcag acatgccata acaaaactgg ctcattatca tgtgtgctgc acccgcagtg
541 cagagcagca cctgatatcc atgtgtgagg accatgatcg catccttttg gcaggctgcc
601 cttcctatga caaacttctc tcagccaaga acaaagacta catgagcatc attcgcatgt
661 ggctaggtga tgatgtaaaa tctaaagatt acattgttgc actacagcac cctgtgacca
721 ctgacattaa gcattccata aaaatgtttg aattaacatt ggatgcactt atctcattta
781 acaagcggac cctagtcctg tttccaaata ttgacgcagg gagcaaagag atggttcgag
841 tgatgcggaa gaagggcatt gagcatcatc ccaactttcg tgcagttaaa cacgtcccat
901 ttgaccagtt tatacagttg gttgcccatg ctggctgtat gattgggaac agcagctgtg
961 gggttcgaga agttggagct tttggaacac ctgtgatcaa cctgggaaca cgtcagattg
1021 gaagagaaac aggggagaat gttcttcatg tccgggatgc tgacacccaa gacaaaatat
1081 tgcaagcact gcaccttcag tttggtaaac agtacccttg ttcaaagata tatggggatg
1141 gaaatgctgt tccaaggatt ttgaagtttc tcaaatctat cgatcttcaa gagccactgc
1201 aaaagaaatt ctgctttcct cctgtgaagg agaatatctc tcaagatatt gaccatattc
1261 ttgaaactct aagtgccttg gccgttgatc ttggcgggac gaacctccga gttgcaatag
1321 tcagcatgaa gggtgaaata gttaagaagt atactcagtt caatcctaaa acctatgaag
1381 agaggattaa tttaatccta cagatgtgtg tggaagctgc agcagaagct gtaaaactga
1441 actgcagaat tttgggagta ggcatttcca caggtggccg tgtaaatcct cgggaaggaa
1501 ttgtgctgca ttcaaccaaa ctgatccaag agtggaactc tgtggacctt aggacccccc
1561 tttctgacac tttgcatctc cctgtgtggg tagacaatga tggcaactgt gctgccctgg
1621 cggaaaggaa atttggccaa ggaaagggac tggaaaactt tgttacactt atcacaggca
1681 caggaatcgg tggtggaatt atccatcagc atgaattgat ccacggaagc tccttctgtg
1741 ctgcagaact gggccacctt gttgtgtctc tggatgggcc tgattgttcc tgtggaagcc
1801 atgggtgcat tgaagcatac gcctctggaa tggccttgca gagggaggca aaaaagctcc
1861 atgatgagga cctgctcttg gtggaaggga tgtcagtgcc aaaagatgag gctgtgggtg
1921 cgctccatct catccaagct gcgaaacttg gcaatgcgaa ggcccagagc atcctaagaa
1981 cagctggaac agctttgggt cttggggttg tgaacatcct ccataccatg aatccctccc
2041 ttgtgatcct ctccggagtc ctggccagtc actatatcca cattgtcaaa gacgtcattc
2101 gccagcaggc cttgtcctcc gtgcaggacg tggatgtggt ggtttcggat ttggttgacc
2161 ccgccctgct gggtgctgcc agcatggttc tggactacac aacacgcagg atctactaga
2221 cctccaggaa cagacatgga ccttctctcc agagctccgt agtggaatca agttcttgtc
2281 tttaggagta gcctttctta acaatcaaat ctgtattgaa ctgacggtga ctttggcaga
2341 gaatgtttca cttttgtctc ctcttccaga gtcaccttcc ccactcta
//