LOCUS D17629 4976 bp DNA linear HUM 22-OCT-2004
DEFINITION Homo sapiens GALNS gene for N-acetylgalactosamine 6-sulfate
sulfatase, complete cds.
ACCESSION D17629 D17616-D17628
VERSION D17629.2
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 4976)
AUTHORS Nakashima,Y.
TITLE Direct Submission
JOURNAL Submitted (13-SEP-1993) to the DDBJ/EMBL/GenBank databases.
Contact:Yoshihiro Nakashima
Gifu University School of Medicine, Department of Pediatrics; 40
Tsukasa-machi, Gifu, Gifu 500, Japan
REFERENCE 2
AUTHORS Tomatsu,S., Fukuda,S., Masue,M., Sukegawa,K., Fukao,T.,
Yamagishi,A., Hori,T., Iwata,H., Ogawa,T., Nakashima,Y., Hanyu,Y.,
Hashimoto,T., Titani,K., Oyama,R., Suzuki,M., Yagi,K., Hayashi,Y.
and Orii,T.
TITLE Morquio disease: isolation, characterization and expression of
full-length cDNA for human N-acetylgalactosamine-6-sulfate
JOURNAL Cell. Mol. Biol. Res. 181, 677-683 (1991)
REFERENCE 3
AUTHORS Nakashima,Y., Tomatsu,S., Hori,T., Fukuda,S., Sukegawa,K.,
Kondo,N., Suzuki,Y., Shimozawa,N. and Orii,T.
TITLE Mucopolysaccharidosis IV A: molecular cloning of the human
N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the
5'-flanking region
JOURNAL Genomics 20, 99-104 (1994)
COMMENT
FEATURES Location/Qualifiers
source 1..4976
/chromosome="16"
/clone_lib="EMBL3"
/db_xref="taxon:9606"
/isolate="Japanese control"
/map="16q24"
/mol_type="genomic DNA"
/organism="Homo sapiens"
/tissue_type="peripheral leukocyte"
regulatory 523..528
/regulatory_class="GC_signal"
regulatory 554..559
/regulatory_class="GC_signal"
regulatory 615..620
/regulatory_class="GC_signal"
regulatory 645..650
/regulatory_class="GC_signal"
exon 674..848
/gene="GALNS"
/number=1
/product="N-acetylgalactosamine 6-sulfate sulfatase"
CDS join(729..848,999..1122,1273..1347,1498..1600,1751..1894,
2045..2111,2262..2386,2537..2676,2827..2930,3081..3217,
3368..3470,3621..3742,3893..4010,4161..4247)
/codon_start=1
/EC_number="3.1.6.4"
/gene="GALNS"
/note="lysosomal enzyme"
/note="secretory protein"
/product="N-acetylgalactosamine 6-sulfate sulfatase"
/protein_id="BAA04535.1"
/translation="MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWG
DLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNA
HARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWF
GSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIK
RQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLH
VADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQ
VSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMA
ATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGE
RFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCL
TPPESIPKKCLWSH"
intron 849..>873
/number=1
gap 874..973
/estimated_length=unknown
intron <974..998
/number=1
exon 999..1122
/gene="GALNS"
/number=2
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 1123..>1147
/number=2
gap 1148..1247
/estimated_length=unknown
intron <1248..1272
/number=2
exon 1273..1347
/gene="GALNS"
/number=3
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 1348..>1372
/number=3
gap 1373..1472
/estimated_length=unknown
intron <1473..1497
/number=3
exon 1498..1600
/gene="GALNS"
/number=4
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 1601..>1625
/number=4
gap 1626..1725
/estimated_length=unknown
intron <1726..1750
/number=4
exon 1751..1894
/gene="GALNS"
/number=5
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 1895..>1919
/number=5
gap 1920..2019
/estimated_length=unknown
intron <2020..2044
/number=5
exon 2045..2111
/gene="GALNS"
/number=6
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 2112..>2136
/number=6
gap 2137..2236
/estimated_length=unknown
intron <2237..2261
/number=6
exon 2262..2386
/gene="GALNS"
/number=7
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 2387..>2411
/number=7
gap 2412..2511
/estimated_length=unknown
intron <2512..2536
/number=7
exon 2537..2676
/gene="GALNS"
/number=8
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 2677..>2701
/number=8
gap 2702..2801
/estimated_length=unknown
intron <2802..2826
/number=8
exon 2827..2930
/gene="GALNS"
/number=9
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 2931..>2955
/number=9
gap 2956..3055
/estimated_length=unknown
intron <3056..3080
/number=9
exon 3081..3217
/gene="GALNS"
/number=10
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 3218..>3242
/number=10
gap 3243..3342
/estimated_length=unknown
intron <3343..3367
/number=10
exon 3368..3470
/gene="GALNS"
/number=11
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 3471..>3495
/number=11
gap 3496..3595
/estimated_length=unknown
intron <3596..3620
/number=11
exon 3621..3742
/gene="GALNS"
/number=12
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 3743..>3767
/number=12
gap 3768..3867
/estimated_length=unknown
intron <3868..3892
/number=12
exon 3893..4010
/gene="GALNS"
/number=13
/product="N-acetylgalactosamine 6-sulfate sulfatase"
intron 4011..>4035
/number=13
gap 4036..4135
/estimated_length=unknown
intron <4136..4160
/number=13
exon 4161..4951
/number=14
regulatory 4914..4919
/regulatory_class="polyA_signal_sequence"
BASE COUNT 682 a 1195 c 1069 g 730 t
ORIGIN
1 acctgcaggt caacggatcc gatttgtttt taactcggct ccggggagac tggcaggagg
61 gccggggccg ccgtccgcgg ggaaccagcg ctggacggga gaacgggcag aacctgctga
121 ggacggagga cggaggtagt gcccgggacc acctaggttt ctggtgggtc ctggcgggga
181 ggagacctgc tgcgccgagg ggtgcgttca gcagcgggac gggcgagcgc ggaactgggg
241 tctcagtcag ggtctgcctg gcggctcgtc ccaccgccgc aagcccctga ccgctggagc
301 tcggcgaagg cctcctccag gtcccatttc ctaaggtgcc ttctaagccc agggaagaag
361 tagaaagaaa gcggagagcc gaggatggtg cgagcccgga cgccccacgc cgcgcgtacg
421 cacctccttg gcaatcaccg cgatgcacac cgccatcttg ggaggctcgg cgccaggcac
481 cgcgtcacgt gacccgccgc tggtcacgcg gcctccaaag ccccgcccca tccgcacaca
541 gctggctcag gccccgcccc actggtcacg aggcagtcca ggccccgcct cccgtccctc
601 cgcggactct ggccccgccc cgcgagtcac gtgccgtcca ggccccgccc cgcagcccag
661 ccggaagggc cggcggacgc tcgctaggtc ggctcgctgg ccggggctcc gcggctcccg
721 tggttgccat ggcggcggtt gtcgcggcga cgaggtggtg gcagctgttg ctggtgctca
781 gcgccgcggg gatgggggcc tcgggcgccc cgcagccccc caacatcctg ctcctgctca
841 tggacgacgt gagtgcgggc ggtgggacgg ggcnnnnnnn nnnnnnnnnn nnnnnnnnnn
901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
961 nnnnnnnnnn nnnctcctcc ccgtgctctt ccctgcagat gggatggggt gacctcgggg
1021 tgtatggaga gccctccaga gagaccccga atttggaccg gatggctgca gaagggctgc
1081 ttttcccaaa cttctattct gccaaccctc tgtgctcgcc atgtaagtca gcggggccct
1141 cgcccccnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnttc tgtttctgtc
1261 acctccacat agcgagggcg gcactgctca caggacggct acccatccgc aatggcttct
1321 acaccaccaa cgcccatgcc agaaacggta ggctgcccac cgcctccagg gannnnnnnn
1381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnggctcacc cagcgctgct cttccagcct
1501 acacaccgca ggagattgtg ggcggcatcc cagactcgga gcagctcctg ccggagcttc
1561 tgaagaaggc cggctacgtc agcaagattg tcggcaagtg gtaagtctcc tggccacgcc
1621 tgcccnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnaagtg tcctgggttc
1741 ctgtttccag gcatctgggt cacaggcccc agttccaccc cctgaagcac ggatttgatg
1801 agtggtttgg atcccccaac tgccactttg gaccttatga caacaaggcc aggcccaaca
1861 tccctgtgta cagggactgg gagatggttg gcaggtaatg gagccccacc ccttcccctn
1921 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1981 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnc tgtctggatc tgtgttcttt
2041 tcagatatta tgaagaattt cctattaatc tgaagacggg ggaagccaac ctcacccaga
2101 tctacctgca ggtgatgggg accgcaccat cctcgcnnnn nnnnnnnnnn nnnnnnnnnn
2161 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2221 nnnnnnnnnn nnnnnngacg acagtgtgac tctctccata ggaagccctg gacttcatta
2281 agagacaggc acggcaccac ccctttttcc tctactgggc tgtcgacgcc acgcatgcac
2341 ccgtctatgc ctccaaaccc ttcttgggca ccagtcagcg agggcggtga gtcctggctc
2401 catggagcgt annnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2461 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ngatgccttt
2521 tgtcaccatc ctgcaggtat ggagacgccg tccgggagat tgatgacagc attgggaaga
2581 tactggagct cctccaagac ctgcacgtcg cggacaacac cttcgtcttc ttcacgtcgg
2641 acaacggcgc tgccctcatt tccgcccccg aacaaggtga gtgctcgctg tcacttctca
2701 cnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2761 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ncctgacaag ggcccctctc
2821 tcccaggtgg cagcaacggc ccctttctgt gtgggaagca gaccacgttt gaaggaggga
2881 tgagggagcc tgccctcgca tggtggccag ggcacgtcac tgcaggccag gtgagtcagc
2941 gtccaccggt ctgccnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3001 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnaccgt
3061 gttgctgcca tgtgtttcag gtgagccacc agctgggcag catcatggac ctcttcacca
3121 ccagcctggc ccttgcgggc ctgacgccgc ccagcgacag ggccattgat ggcctcaacc
3181 tcctccccac cctcctgcag ggccggctga tggacaggtt ggtgctagac ctgccccggc
3241 ccnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3301 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnatggtcct cccctcccat
3361 cccacaggcc tatcttctat taccgtggcg acacgctgat ggcggccacc ctcgggcagc
3421 acaaggctca cttctggacc tggaccaact cctgggagaa cttcagacag gtacagggct
3481 cgggacgtgg gcgcannnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3541 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnncacac
3601 cttccctctt ctcattgcag ggcattgatt tctgccctgg gcagaacgtt tcaggggtca
3661 caactcacaa tctggaagac cacacgaagc tgcccctgat cttccacctg ggacgggacc
3721 caggggagag gttccccctc aggtgagtcg gtgcagggcc tcctggcnnn nnnnnnnnnn
3781 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3841 nnnnnnnnnn nnnnnnnnnn nnnnnnntgt gaccagagct ctctgtcccc agctttgcca
3901 gcgccgagta ccaggaggcc ctcagcagga tcacctcggt cgtccagcag caccaggaag
3961 ccttggtccc cgcgcagccc cagctcaacg tgtgcaactg ggcggtcatg gtaagtggct
4021 ggtgtgtggg cggccnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnctttt
4141 tctcaatttt catttcccag aactgggcac ctccgggctg tgaaaagtta gggaagtgtc
4201 tgacacctcc agaatccatt cccaagaagt gcctctggtc ccactagcac ctgcgcagac
4261 tcaggccagg cctagaatct ccagttggcc ctgcaagtgc ctggaggaag gatggctctg
4321 gcctcggtcc tcccccaacc ctgcccaagc cagacagaca gcacctgcag acgcaggggg
4381 actgcacaat tccacctgcc caggacctga ccctggcgtg tgcttggccc tcctcctcgc
4441 ccacggcgcc tcagatttca ggaccctcct cctcgcccac ggcgcctcag acctcaggac
4501 cctgccgtct cacgcctttg tgaaccccaa atatctgaga ccagtctcag tttattttgc
4561 caaggttaag gatgcacctg tgacagcctc aggaggtcct gacaacaggt gcccgaggtg
4621 gctggggata cagtttgcct ttatacatct tagggagaca caagatcagt atgtgtatgg
4681 cgtacattgg ttcagtcagc cttccactga atacacgatt gagtctggcc cagtgaatcc
4741 gcatttttat gtaaacagta agggaacggg gcaatcatat aagcgtttgt ctcaggggag
4801 ccccagaggg atgacttcca gttccgtctg tcctttgtcc acaaggaatt tccctgggcg
4861 ctaattatga gggaggcgtg tagcttctta tcattgtagc tatgttattt agaaataaaa
4921 cgggaggcag gtttgcctaa ttcccaggtt gatttttctc ttggctgagt gatttt
//