LOCUS       NM_000512               2344 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens galactosamine (N-acetyl)-6-sulfatase (GALNS),
            transcript variant 1, mRNA.
ACCESSION   NM_000512
VERSION     NM_000512.5
KEYWORDS    RefSeq; MANE Select.
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 2344)
  AUTHORS   Ghafoor,S., Silveira,K.D.C., Qamar,R., Azam,M. and Kannu,P.
  TITLE     Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn)
            Causing Mucopolysaccharidosis Type IVA in a Pakistani
            Consanguineous Family
  JOURNAL   Genes (Basel) 13 (10), 1743 (2022)
   PUBMED   36292628
  REMARK    GeneRIF: Exome Sequencing Identifies a Biallelic GALNS Variant
            (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani
            Consanguineous Family.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2344)
  AUTHORS   Sheth,H., Naik,P., Shah,M., Bhavsar,R., Nair,A., Sheth,F. and
            Sheth,J.
  TITLE     The GALNS p.P77R variant is a probable Gujarati-Indian founder
            mutation causing Mucopolysaccharidosis IVA syndrome
  JOURNAL   BMC Genomics 23 (1), 458 (2022)
   PUBMED   35729508
  REMARK    GeneRIF: The GALNS p.P77R variant is a probable Gujarati-Indian
            founder mutation causing Mucopolysaccharidosis IVA syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2344)
  AUTHORS   Yi,M., Wang,Y., Gao,X., Han,L., Qiu,W., Gu,X., Maegawa,G.H.B. and
            Zhang,H.
  TITLE     Investigation of GALNS variants and genotype-phenotype correlations
            in a large cohort of patients with mucopolysaccharidosis type IVA
  JOURNAL   J Inherit Metab Dis 45 (3), 593-604 (2022)
   PUBMED   35212421
  REMARK    GeneRIF: Investigation of GALNS variants and genotype-phenotype
            correlations in a large cohort of patients with
            mucopolysaccharidosis type IVA.
REFERENCE   4  (bases 1 to 2344)
  AUTHORS   Frigeni,M., Rodriguez-Buritica,D.F., Saavedra,H., Gunther,K.A.,
            Hillman,P.R., Balaguru,D. and Northrup,H.
  TITLE     The youngest pair of siblings with Mucopolysaccharidosis type IVA
            to receive enzyme replacement therapy to date: A case report
  JOURNAL   Am J Med Genet A 185 (11), 3510-3516 (2021)
   PUBMED   34472180
  REMARK    GeneRIF: The youngest pair of siblings with Mucopolysaccharidosis
            type IVA to receive enzyme replacement therapy to date: A case
            report.
REFERENCE   5  (bases 1 to 2344)
  AUTHORS   Zanetti,A., D'Avanzo,F., AlSayed,M., Brusius-Facchin,A.C.,
            Chien,Y.H., Giugliani,R., Izzo,E., Kasper,D.C., Lin,H.Y., Lin,S.P.,
            Pollard,L., Singh,A., Tonin,R., Wood,T., Morrone,A. and Tomanin,R.
  TITLE     Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome):
            A review and classification of GALNS gene variants and reporting of
            68 novel variants
  JOURNAL   Hum Mutat 42 (11), 1384-1398 (2021)
   PUBMED   34387910
  REMARK    GeneRIF: Molecular basis of mucopolysaccharidosis IVA (Morquio A
            syndrome): A review and classification of GALNS gene variants and
            reporting of 68 novel variants.
            Review article
REFERENCE   6  (bases 1 to 2344)
  AUTHORS   Regier,D.S., Oetgen,M. and Tanpaiboon,P.
  TITLE     Mucopolysaccharidosis Type IVA
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23844448
REFERENCE   7  (bases 1 to 2344)
  AUTHORS   Fukuda,S., Tomatsu,S., Masue,M., Sukegawa,K., Iwata,H., Ogawa,T.,
            Nakashima,Y., Hori,T., Yamagishi,A., Hanyu,Y. et al.
  TITLE     Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate
            sulfatase exonic point mutations in classical Morquio and mild
            cases
  JOURNAL   J Clin Invest 90 (3), 1049-1053 (1992)
   PUBMED   1522213
REFERENCE   8  (bases 1 to 2344)
  AUTHORS   Tomatsu,S., Fukuda,S., Masue,M., Sukegawa,K., Fukao,T.,
            Yamagishi,A., Hori,T., Iwata,H., Ogawa,T., Nakashima,Y. et al.
  TITLE     Morquio disease: isolation, characterization and expression of
            full-length cDNA for human N-acetylgalactosamine-6-sulfate
            sulfatase
  JOURNAL   Biochem Biophys Res Commun 181 (2), 677-683 (1991)
   PUBMED   1755850
REFERENCE   9  (bases 1 to 2344)
  AUTHORS   Masue,M., Sukegawa,K., Orii,T. and Hashimoto,T.
  TITLE     N-acetylgalactosamine-6-sulfate sulfatase in human placenta:
            purification and characteristics
  JOURNAL   J Biochem 110 (6), 965-970 (1991)
   PUBMED   1794986
REFERENCE   10 (bases 1 to 2344)
  AUTHORS   Bielicki,J. and Hopwood,J.J.
  TITLE     Human liver N-acetylgalactosamine 6-sulphatase. Purification and
            characterization
  JOURNAL   Biochem J 279 (Pt 2) (Pt 2), 515-520 (1991)
   PUBMED   1953646
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC050684.1 and BC007825.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000512.4.
            
            Summary: This gene encodes N-acetylgalactosamine-6-sulfatase which
            is a lysosomal exohydrolase required for the degradation of the
            glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate.
            Sequence alterations including point, missense and nonsense
            mutations, as well as those that affect splicing, result in a
            deficiency of this enzyme. Deficiencies of this enzyme lead to
            Morquio A syndrome, a lysosomal storage disorder. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056151.1, SRR11853565.11629.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268695.10/ ENSP00000268695.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2338              BC050684.1         9-2346
            2339-2344           BC007825.2         1418-1423
FEATURES             Location/Qualifiers
     source          1..2344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2344
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="galactosamine (N-acetyl)-6-sulfatase"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
     exon            1..190
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1639
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /EC_number="3.1.6.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; chondroitinase;
                     N-acetylgalactosamine-6-sulfatase; galactosamine
                     (N-acetyl)-6-sulfate sulfatase; galNAc6S sulfatase;
                     chondroitinsulfatase; galactose-6-sulfate sulfatase;
                     N-acetylgalactosamine-6-sulfate sulfatase"
                     /codon_start=1
                     /product="N-acetylgalactosamine-6-sulfatase isoform 1
                     precursor"
                     /protein_id="NP_000503.1"
                     /db_xref="CCDS:CCDS10970.1"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
                     /translation="MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWG
                     DLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNA
                     HARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWF
                     GSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIK
                     RQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLH
                     VADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQ
                     VSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMA
                     ATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGE
                     RFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCL
                     TPPESIPKKCLWSH"
     exon            191..314
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            315..389
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            390..492
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            493..636
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            637..703
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            704..828
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            829..968
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1072
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1209
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1312
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1434
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1552
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..2344
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2306..2311
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="hexamer: AATAAA"
     polyA_site      2344
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="major polyA site"
ORIGIN      
        1 agccggaagg gccggcggac gctcgctagg tcggctcgct ggccggggct ccgcggctcc
       61 cgtggttgcc atggcggcgg ttgtcgcggc gacgaggtgg tggcagctgt tgctggtgct
      121 cagcgccgcg gggatggggg cctcgggcgc cccgcagccc cccaacatcc tgctcctgct
      181 catggacgac atgggatggg gtgacctcgg ggtgtatgga gagccctcca gagagacccc
      241 gaatttggac cggatggctg cagaagggct gcttttccca aacttctatt ctgccaaccc
      301 tctgtgctcg ccatcgaggg cggcactgct cacaggacgg ctacccatcc gcaatggctt
      361 ctacaccacc aacgcccatg ccagaaacgc ctacacaccg caggagattg tgggcggcat
      421 cccagactcg gagcagctcc tgccggagct tctgaagaag gccggctacg tcagcaagat
      481 tgtcggcaag tggcatctgg gtcacaggcc ccagttccac cccctgaagc acggatttga
      541 tgagtggttt ggatccccca actgccactt tggaccttat gacaacaagg ccaggcccaa
      601 catccctgtg tacagggact gggagatggt tggcagatat tatgaagaat ttcctattaa
      661 tctgaagacg ggggaagcca acctcaccca gatctacctg caggaagccc tggacttcat
      721 taagagacag gcacggcacc accccttttt cctctactgg gctgtcgacg ccacgcacgc
      781 acccgtctat gcctccaaac ccttcttggg caccagtcag cgagggcggt atggagacgc
      841 cgtccgggag attgatgaca gcattgggaa gatactggag ctcctccaag acctgcacgt
      901 cgcggacaac accttcgtct tcttcacgtc ggacaacggc gctgccctca tttccgcccc
      961 cgaacaaggt ggcagcaacg gcccctttct gtgtgggaag cagaccacgt ttgaaggagg
     1021 gatgagggag cctgccctcg catggtggcc agggcacgtc actgcaggcc aggtgagcca
     1081 ccagctgggc agcatcatgg acctcttcac caccagcctg gcccttgcgg gcctgacgcc
     1141 gcccagcgac agggccattg atggcctcaa cctcctcccc accctcctgc agggccggct
     1201 gatggacagg cctatcttct attaccgtgg cgacacgctg atggcggcca ccctcgggca
     1261 gcacaaggct cacttctgga cctggaccaa ctcctgggag aacttcagac agggcattga
     1321 tttctgccct gggcagaacg tttcaggggt cacaactcac aatctggaag accacacgaa
     1381 gctgcccctg atcttccacc tgggacggga cccaggggag aggttccccc tcagctttgc
     1441 cagcgccgag taccaggagg ccctcagcag gatcacctcg gtcgtccagc agcaccagga
     1501 ggccttggtc cccgcgcagc cccagctcaa cgtgtgcaac tgggcggtca tgaactgggc
     1561 acctccgggc tgtgaaaagt tagggaagtg tctgacacct ccagaatcca ttcccaagaa
     1621 gtgcctctgg tcccactagc acctgcgcag actcaggcca ggcctagaat ctccggttgg
     1681 ccctgcaagt gcctggagga aggatggctc tggcctcggt cctcccccaa ccctgcccaa
     1741 gccagacaga cagcacctgc agacgcaggg ggactgcaca attccacctg cccaggacct
     1801 gaccctggcg tgtgcttggc cctcctcctc gcccacggcg cctcagattt caggaccctc
     1861 ctcctcgccc acggcgcctc agacctcagg accctgccgt ctcacgcctt tgtgaacccc
     1921 aaatatctga gaccagtctc agtttatttt gccaaggtta aggatgcacc tgtgacagcc
     1981 tcaggaggtc ctgacaacag gtgcctgagg tggctgggga tacagtttgc ctttatacat
     2041 cttagggaga cacaagatca gtatgtgtat ggcgtacatt ggttcagtca gccttccact
     2101 gaatacacga ttgagtctgg cccagtgaat ccgcattttt atgtaaacag taagggaacg
     2161 gggcaatcat ataagcgttt gtctcagggg agccccagag ggatgacttc cagttccgtc
     2221 tgtcctttgt ccacaaggaa tttccctgga cgctaattat gagggaggcg tgtagcttct
     2281 tatcattgta actatgttat ttagaaataa aacgggaggc aggtttgcct aattcccagc
     2341 ttga
//
