LOCUS       NP_083640                544 aa            linear   ROD 27-APR-2025
DEFINITION  N-acetylglucosamine-6-sulfatase isoform 1 precursor [Mus musculus].
ACCESSION   NP_083640
VERSION     NP_083640.1
DBSOURCE    REFSEQ: accession NM_029364.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 544)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 544)
  AUTHORS   Wang,F., Moen,D.R., Sauni,C., Kan,S.H., Li,S., Le,S.Q.,
            Lomenick,B., Zhang,X., Ekins,S., Singamsetty,S., Wood,J.,
            Dickson,P.I. and Chou,T.F.
  TITLE     Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using
            Recombinant Human alpha-N-Acetylglucosamine-6-Sulfatase in Neonatal
            Mice
  JOURNAL   Mol Pharm 18 (1), 214-227 (2021)
   PUBMED   33320673
REFERENCE   3  (residues 1 to 544)
  AUTHORS   Cajigas,I., Chakraborty,A., Swyter,K.R., Luo,H., Bastidas,M.,
            Nigro,M., Morris,E.R., Chen,S., VanGompel,M.J.W., Leib,D.,
            Kohtz,S.J., Martina,M., Koh,S., Ay,F. and Kohtz,J.D.
  TITLE     The Evf2 Ultraconserved Enhancer lncRNA Functionally and Spatially
            Organizes Megabase Distant Genes in the Developing Forebrain
  JOURNAL   Mol Cell 71 (6), 956-972 (2018)
   PUBMED   30146317
REFERENCE   4  (residues 1 to 544)
  AUTHORS   Danyukova,T., Ariunbat,K., Thelen,M., Brocke-Ahmadinejad,N.,
            Mole,S.E. and Storch,S.
  TITLE     Loss of CLN7 results in depletion of soluble lysosomal proteins and
            impaired mTOR reactivation
  JOURNAL   Hum Mol Genet 27 (10), 1711-1722 (2018)
   PUBMED   29514215
REFERENCE   5  (residues 1 to 544)
  AUTHORS   Roca,C., Motas,S., Marco,S., Ribera,A., Sanchez,V., Sanchez,X.,
            Bertolin,J., Leon,X., Perez,J., Garcia,M., Villacampa,P.,
            Ruberte,J., Pujol,A., Haurigot,V. and Bosch,F.
  TITLE     Disease correction by AAV-mediated gene therapy in a new mouse
            model of mucopolysaccharidosis type IIID
  JOURNAL   Hum Mol Genet 26 (8), 1535-1551 (2017)
   PUBMED   28334745
  REMARK    GeneRIF: Mice deficient in GNS showed lysosomal storage pathology
            and a phenotype that closely resembled human MPSIIID. Moreover,
            treatment of the GNS-deficient animals with GNS-encoding
            adeno-associated viral (AAV) vectors of serotype 9 delivered to the
            cerebrospinal fluid completely corrected pathological storage,
            improved lysosomal functionality in the CNS and somatic tissues,
            resolved neuroinflammation
REFERENCE   6  (residues 1 to 544)
  AUTHORS   Ratzka,A., Mundlos,S. and Vortkamp,A.
  TITLE     Expression patterns of sulfatase genes in the developing mouse
            embryo
  JOURNAL   Dev Dyn 239 (6), 1779-1788 (2010)
   PUBMED   20503373
REFERENCE   7  (residues 1 to 544)
  AUTHORS   Zito,E., Fraldi,A., Pepe,S., Annunziata,I., Kobinger,G., Di
            Natale,P., Ballabio,A. and Cosma,M.P.
  TITLE     Sulphatase activities are regulated by the interaction of
            sulphatase-modifying factor 1 with SUMF2
  JOURNAL   EMBO Rep 6 (7), 655-660 (2005)
   PUBMED   15962010
  REMARK    Erratum:[EMBO Rep. 2016 Dec;17(12):1901. doi:
            10.15252/embr.201570010. PMID: 27909074]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC140264.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK049162.1, AK054046.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 69.62 cM"
     Protein         1..544
                     /product="N-acetylglucosamine-6-sulfatase isoform 1
                     precursor"
                     /EC_number="3.1.6.14"
                     /note="N-acetylglucosamine-6-sulfatase"
                     /calculated_mol_wt=57633
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3560
     mat_peptide     36..544
                     /product="N-acetylglucosamine-6-sulfatase.
                     /id=PRO_0000273189"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8BFR4.1)"
                     /calculated_mol_wt=57633
     Region          38..487
                     /region_name="G6S"
                     /note="glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND
                     sulfatase 1(SULF1); cd16147"
                     /db_xref="CDD:293766"
     Site            order(47..48,83,141,143,227,318..319)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293766"
     Site            order(47..48,83,141,143,227,319)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293766"
     Site            103
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            109
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            175
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            190
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            202
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            271
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            354
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            379
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            397
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            414
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            441
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            472
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     Site            533
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15586; propagated from
                     UniProtKB/Swiss-Prot (Q8BFR4.1)"
     CDS             1..544
                     /gene="Gns"
                     /gene_synonym="2610016K11Rik; G6S"
                     /coded_by="NM_029364.4:102..1736"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS24210.1"
                     /db_xref="GeneID:75612"
                     /db_xref="MGI:MGI:1922862"
ORIGIN      
        1 mrlpsaagpr pgrprrlpal lllpllggcl glvgaarrpn vlllltddqd aelggmtplk
       61 ktkaligekg mtfssayvps alccpsrasi ltgkyphnhh vvnntlegnc sskawqkiqe
      121 pytfpailks vcgyqtffag kylneygapd agglehiplg wsywyalekn skyynytlsi
      181 ngkarkhgen ysvdyltdvl anlsldfldy ksnsepffmm istpaphspw taapqyqkaf
      241 qnviaprnkn fnihgtnkhw lirqaktpmt nssirfldda frrrwqtlls vddlveklvk
      301 rldstgeldn tyifytsdng yhtgqfslpi dkrqlyefdi kvpllvrgpg ikpnqtskml
      361 vsnidlgpti ldlagydlnk tqmdgmsllp ilkgdrnltw rsdvlveyqg egrnvtdptc
      421 pslspgvsqc fpdcvceday nntyacvrtl sslwnlqyce fddqevfvev ynitadpdqi
      481 tniaksidpe llgkmnyrlm mlqscsgptc rtpgvfdpgy rfdlrlmfns hgsvrtrrfs
      541 khpl
//
