LOCUS AY687932 5597 bp mRNA linear HUM 25-APR-2006
DEFINITION Homo sapiens GlcNAc-phosphotransferase precursor, mRNA, complete
cds.
ACCESSION AY687932
VERSION AY687932.1
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 5597)
AUTHORS Kudo,M., Bao,M., D'Souza,A., Ying,F., Pan,H., Roe,B.A. and
Canfield,W.M.
TITLE The alpha- and beta-subunits of the human
UDP-N-acetylglucosamine:lysosomal enzyme
N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by
a single cDNA
JOURNAL J. Biol. Chem. 280 (43), 36141-36149 (2005)
PUBMED 16120602
REMARK Erratum:[J Biol Chem. 2005 Dec 23;280(51):42476]
REFERENCE 2 (bases 1 to 5597)
AUTHORS Kudo,M., Brem,M.S. and Canfield,W.M.
TITLE Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical
pseudo-hurler polydystrophy) are caused by mutations in the
GlcNAc-phosphotransferase alpha / beta -subunits precursor gene
JOURNAL Am. J. Hum. Genet. 78 (3), 451-463 (2006)
PUBMED 16465621
REFERENCE 3 (bases 1 to 5597)
AUTHORS Kudo,M., Bao,M., D'Souza,A. and Canfield,W.M.
TITLE Direct Submission
JOURNAL Submitted (16-JUL-2004) Genzyme, 800 Research Parkway, Suite 200,
Oklahoma City, OK 73104, USA
FEATURES Location/Qualifiers
source 1..5597
/db_xref="H-InvDB:HIT000332166"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q23"
5'UTR 1..164
CDS 165..3935
/function="transfers GlcNAc-phosphate from UDP-GlcNAc to
lysosomal hydrolases"
/note="contains alpha and beta subunits; mannose
6-phosphate; lysosomal hydrolase; lysosomal-enzyme
N-acetylglucosamine-1-phosphotransferase"
/codon_start=1
/product="GlcNAc-phosphotransferase precursor"
/protein_id="AAV98624.1"
/translation="MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEW
SRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEE
EQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPS
FHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEV
PGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKD
FQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLR
SIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHV
HRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDG
YCDKACNNSACDWDGGDCSGNSGGSRYIAGGGGTGSIGVGQPWQFGGGINSVSYCNQG
CANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVILLPNQTHYIIPKGECLPYF
SFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHLIMHSGMNATTIHFNLTFQNTNDEE
FKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLPEAEILFEDIPKEKRFPKFKRHD
VNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEHGDITLKGYNLSKSALLRSFL
MNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLGVSERLQRLTFPAVSVKVN
GHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIVPLESQMTKEKKITGKE
KENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYFLDLLDEEESLKTQL
AYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDM
FPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTDQSGVLSDREI
RTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYDPNLPPVTK
SLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDIRKNPRK
FVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQEWRAY
RDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV"
3'UTR 3936..5597
regulatory 5576..5581
/regulatory_class="polyA_signal_sequence"
polyA_site 5594
BASE COUNT 1675 a 1153 c 1219 g 1550 t
ORIGIN
1 cggagccgag cgggcgtccg tcgccggagc tgcaatgagc ggcgcccgga ggctgtgacc
61 tgcgcgcggc ggcccgaccg gggcccctga atggcggctc gctgaggcgg cggcggcggc
121 ggcggctcag gctcctcggg gcgtggcgtg gcggtgaagg ggtgatgctg ttcaagctcc
181 tgcagagaca aacctatacc tgcctgtccc acaggtatgg gctctacgtg tgcttcttgg
241 gcgtcgttgt caccatcgtc tccgccttcc agttcggaga ggtggttctg gaatggagcc
301 gagatcaata ccatgttttg tttgattcct atagagacaa tattgctgga aagtcctttc
361 agaatcggct ttgtctgccc atgccgattg acgttgttta cacctgggtg aatggcacag
421 atcttgaact actgaaggaa ctacagcagg tcagagaaca gatggaggag gagcagaaag
481 caatgagaga aatccttggg aaaaacacaa cggaacctac taagaagagt gagaagcagt
541 tagagtgttt gctaacacac tgcattaagg tgccaatgct tgtcctggac ccagccctgc
601 cagccaacat caccctgaag gacctgccat ctctttatcc ttcttttcat tctgccagtg
661 acattttcaa tgttgcaaaa ccaaaaaacc cttctaccaa tgtctcagtt gttgtttttg
721 acagtactaa ggatgttgaa gatgcccact ctggactgct taaaggaaat agcagacaga
781 cagtatggag gggctacttg acaacagata aagaagtccc tggattagtg ctaatgcaag
841 atttggcttt cctgagtgga tttccaccaa cattcaagga aacaaatcaa ctaaaaacaa
901 aattgccaga aaatctttcc tctaaagtca aactgttgca gttgtattca gaggccagtg
961 tagcgcttct aaaactgaat aaccccaagg attttcaaga attgaataag caaactaaga
1021 agaacatgac cattgatgga aaagaactga ccataagtcc tgcatattta ttatgggatc
1081 tgagcgccat cagccagtct aagcaggatg aagacatctc tgccagtcgt tttgaagata
1141 acgaagaact gaggtactca ttgcgatcta tcgagaggca tgcaccatgg gttcggaata
1201 ttttcattgt caccaacggg cagattccat cctggctgaa ccttgacaat cctcgagtga
1261 caatagtaac acaccaggat gtttttcgaa atttgagcca cttgcctacc tttagttcac
1321 ctgctattga aagtcacgtt catcgcatcg aagggctgtc ccagaagttt atttacctaa
1381 atgatgatgt catgtttggg aaggatgtct ggccagatga tttttacagt cactccaaag
1441 gccagaaggt ttatttgaca tggcctgtgc caaactgtgc cgagggctgc ccaggttcct
1501 ggattaagga tggctattgt gacaaggctt gtaataattc agcctgcgat tgggatggtg
1561 gggattgctc tggaaacagt ggagggagtc gctatattgc aggaggtgga ggtactggga
1621 gtattggagt tggacagccc tggcagtttg gtggaggaat aaacagtgtc tcttactgta
1681 atcagggatg tgcgaattcc tggctcgctg ataagttctg tgaccaagca tgcaatgtct
1741 tgtcctgtgg gtttgatgct ggcgactgtg ggcaagatca ttttcatgaa ttgtataaag
1801 tgatccttct cccaaaccag actcactata ttattccaaa aggtgaatgc ctgccttatt
1861 tcagctttgc agaagtagcc aaaagaggag ttgaaggtgc ctatagtgac aatccaataa
1921 ttcgacatgc ttctattgcc aacaagtgga aaaccatcca cctcataatg cacagtggaa
1981 tgaatgccac cacaatacat tttaatctca cgtttcaaaa tacaaacgat gaagagttca
2041 aaatgcagat aacagtggag gtggacacaa gggagggacc aaaactgaat tctacggccc
2101 agaagggtta cgaaaattta gttagtccca taacacttct tccagaggcg gaaatccttt
2161 ttgaggatat tcccaaagaa aaacgcttcc cgaagtttaa gagacatgat gttaactcaa
2221 caaggagagc ccaggaagag gtgaaaattc ccctggtaaa tatttcactc cttccaaaag
2281 acgcccagtt gagtctcaat accttggatt tgcaactgga acatggagac atcactttga
2341 aaggatacaa tttgtccaag tcagccttgc tgagatcatt tctgatgaac tcacagcatg
2401 ctaaaataaa aaatcaagct ataataacag atgaaacaaa tgacagtttg gtggctccac
2461 aggaaaaaca ggttcataaa agcatcttgc caaacagctt aggagtgtct gaaagattgc
2521 agaggttgac ttttcctgca gtgagtgtaa aagtgaatgg tcatgaccag ggtcagaatc
2581 cacccctgga cttggagacc acagcaagat ttagagtgga aactcacacc caaaaaacca
2641 taggcggaaa tgtgacaaaa gaaaagcccc catctctgat tgttccactg gaaagccaga
2701 tgacaaaaga aaagaaaatc acagggaaag aaaaagagaa cagtagaatg gaggaaaatg
2761 ctgaaaatca cataggcgtt actgaagtgt tacttggaag aaagctgcag cattacacag
2821 atagttactt gggctttttg ccatgggaga aaaaaaagta tttcctagat cttctcgacg
2881 aagaagagtc attgaagaca caattggcat acttcactga tagcaaaaat actgggaggc
2941 aactaaaaga tacatttgca gattccctca gatatgtaaa taaaattcta aatagcaagt
3001 ttggattcac atcgcggaaa gtccctgctc acatgcctca catgattgac cggattgtta
3061 tgcaagaact gcaagatatg ttccctgaag aatttgacaa gacgtcattt cacaaagtgc
3121 gccattctga ggatatgcag tttgccttct cttattttta ttatctcatg agtgcagtgc
3181 agccactgaa tatatctcaa gtctttgatg aagttgatac agatcaatct ggtgtcttgt
3241 ctgacagaga aatccgaaca ctggctacca gaattcacga actgccgtta agtttgcagg
3301 atttgacagg tctggaacac atgctaataa attgctcaaa aatgcttcct gctgatatca
3361 cgcagctaaa taatattcca ccaactcagg aatcctacta tgatcccaac ctgccaccgg
3421 tcactaaaag tctagtaaca aactgtaaac cagtaactga caaaatccac aaagcatata
3481 aggacaaaaa caaatatagg tttgaaatca tgggagaaga agaaatcgct tttaaaatga
3541 ttcgtaccaa cgtttctcat gtggttggcc agttggatga cataagaaaa aaccctagga
3601 agtttgtttg cctgaatgac aacattgacc acaatcataa agatgctcag acagtgaagg
3661 ctgttctcag ggacttctat gaatccatgt tccccatacc ttcccaattt gaactgccaa
3721 gagagtatcg aaaccgtttc cttcatatgc atgagctgca ggaatggagg gcttatcgag
3781 acaaattgaa gttttggacc cattgtgtac tagcaacatt gattatgttt actatattct
3841 cattttttgc tgagcagtta attgcactta agcggaagat atttcccaga aggaggatac
3901 acaaagaagc tagtcccaat cgaatcagag tatagaagat cttcatttga aaaccatcta
3961 cctcagcatt tactgagcat tttaaaactc agcttcacag agatgtcttt gtgatgtgat
4021 gcttagcagt ttggcccgaa gaaggaaaat atccagtacc atgctgtttt gtggcatgaa
4081 tatagcccac tgactaggaa ttatttaacc aacccactga aaacttgtgt gtcgagcagc
4141 tctgaactga ttttactttt aaagaatttg ctcatggacc tgtcatcctt tttataaaaa
4201 ggctcactga caagagacag ctgttaattt cccacagcaa tcattgcaga ctaactttat
4261 taggagaagc ctatgccagc tgggagtgat tgctaagagg ctccagtctt tgcattccaa
4321 agccttttgc taaagttttg cacttttttt ttttcatttc ccatttttaa gtagttacta
4381 agttaactag ttattcttgc ttctgagtat aacgaattgg gatgtctaaa cctattttta
4441 tagatgttat ttaaataatg cagcaatatc acctcttatt gacaatacct aaattatgag
4501 ttttattaat atttaagact gtaaatggtc ttaaaccact aactactgaa gagctcaatg
4561 attgacatct gaaatgcttt gtaattattg acttcagccc ctaagaatgc tatgatttca
4621 cgtgcaggtc taatttcaac aggctagagt tagtactact taccagatgt aattatgttt
4681 tggaaatgta catattcaaa cagaagtgcc tcattttaga aatgagtagt gctgatggca
4741 ctggcacatt acagtggtgt cttgtttaat actcattggt atattccagt agctatctct
4801 ctcagttggt ttttgataga acagaggcca gcaaactttc tttgtaaaag gctggttagt
4861 aaattattgc aggccacctg tgtctttgtc atacattctt cttgctgttg tttagtttgt
4921 tttttttcaa acaaccctct aaaaatgtaa aaaccatgtt tagcttgcag ctgtacaaaa
4981 actgcccacc agccagatgt gaccctcagg ccatcatttg ccaatcactg agaattattt
5041 ttgttgttgt tgttgttgtt gtttttgaga cagagtctct ctctgttgcc caggctggag
5101 tgcagtggcg caatctcagc tcactgcaac ctccgcctcc cgggttcaag cagttctgtc
5161 tcagccttct gagtagctgg gactacaggt gcatgccacc acaccctgct aatttttgta
5221 tttttagtag agacgggggt tccaccatat tggtcaggct tatcttgaac tcctgacctc
5281 aggtgatcca cctgcctctg cctcccaaag tgctgagatt acaggcataa gccagtgcac
5341 ccagccgaga attagtattt ttatgtatgg ttaaaccttg gcgtctagcc atattttatg
5401 tcataataca atggatttgt gaagagcaga ttccatgagt aactctgaca ggtattttag
5461 atcatgatct caacaatatt cctcccaaat ggcatacatc ttttgtacaa agaacttgaa
5521 atgtaaatac tgtgtttgtg ctgtaagagt tgtgtatttc aaaaactgaa atctcataaa
5581 aagttaaatt ttgaaaa
//