LOCUS       NM_000199               2705 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), transcript
            variant 1, mRNA.
ACCESSION   NM_000199
VERSION     NM_000199.5
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 2705)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2705)
  AUTHORS   Yi,F., Hong,X., Kumar,A.B., Zong,C., Boons,G.J., Scott,C.R.,
            Turecek,F., Robinson,B.H. and Gelb,M.H.
  TITLE     Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in
            dried blood spots (DBS) by tandem mass spectrometry
  JOURNAL   Mol Genet Metab 125 (1-2), 59-63 (2018)
   PUBMED   30006231
  REMARK    GeneRIF: Sulfamidase activity in 238 random newborns was well
            elevated compared to the range of activities measured in dried
            blood spots from 8 patients previously confirmed to have
            mucopolysaccharidosis III-A.
REFERENCE   3  (bases 1 to 2705)
  AUTHORS   Truxal,K.V., Fu,H., McCarty,D.M., McNally,K.A., Kunkler,K.L.,
            Zumberge,N.A., Martin,L., Aylward,S.C., Alfano,L.N., Berry,K.M.,
            Lowes,L.P., Corridore,M., McKee,C., McBride,K.L. and Flanigan,K.M.
  TITLE     A prospective one-year natural history study of
            mucopolysaccharidosis types IIIA and IIIB: Implications for
            clinical trial design
  JOURNAL   Mol Genet Metab 119 (3), 239-248 (2016)
   PUBMED   27590925
  REMARK    GeneRIF: CSF enzyme activity levels for either SGSH (in MPS IIIA
            subjects) or NAGLU (in MPS IIIB) significantly differed from normal
            controls. Several other behavioral or functional measures were
            found to be uninformative in this population, including timed
            functional motor tests.
REFERENCE   4  (bases 1 to 2705)
  AUTHORS   Wilkin,J., Kerr,N.C., Byrd,K.W., Ward,J.C. and Iannaccone,A.
  TITLE     Characterization of a Case of Pigmentary Retinopathy in Sanfilippo
            Syndrome Type IIIA Associated with Compound Heterozygous Mutations
            in the SGSH Gene
  JOURNAL   Ophthalmic Genet 37 (2), 217-227 (2016)
   PUBMED   26331342
  REMARK    GeneRIF: We have identified ocular features of a patient with
            Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that
            were not previously known to occur in this disease - namely, a
            progressive retinopathy with distinctive features, cystic macular
            changes responsive to carbonic anhydrase inhibitors, and complex
            electroretinographic abnormalities consistent with postreceptoral
            dysfunction.
REFERENCE   5  (bases 1 to 2705)
  AUTHORS   Duncan,F.J., Naughton,B.J., Zaraspe,K., Murrey,D.A., Meadows,A.S.,
            Clark,K.R., Newsom,D.E., White,P., Fu,H. and McCarty,D.M.
  TITLE     Broad functional correction of molecular impairments by systemic
            delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice
  JOURNAL   Mol Ther 23 (4), 638-647 (2015)
   PUBMED   25592334
  REMARK    GeneRIF: results demonstrate that a single systemic scAAVrh74-hSGSH
            delivery mediated efficient restoration of SGSH activity and
            resulted in a near complete correction of MPS IIIA molecular
            pathology
REFERENCE   6  (bases 1 to 2705)
  AUTHORS   Blanch,L., Weber,B., Guo,X.H., Scott,H.S. and Hopwood,J.J.
  TITLE     Molecular defects in Sanfilippo syndrome type A
  JOURNAL   Hum Mol Genet 6 (5), 787-791 (1997)
   PUBMED   9158154
REFERENCE   7  (bases 1 to 2705)
  AUTHORS   Karageorgos,L.E., Guo,X.H., Blanch,L., Weber,B., Anson,D.S.,
            Scott,H.S. and Hopwood,J.J.
  TITLE     Structure and sequence of the human sulphamidase gene
  JOURNAL   DNA Res 3 (4), 269-271 (1996)
   PUBMED   8946167
REFERENCE   8  (bases 1 to 2705)
  AUTHORS   Scott,H.S., Blanch,L., Guo,X.H., Freeman,C., Orsborn,A., Baker,E.,
            Sutherland,G.R., Morris,C.P. and Hopwood,J.J.
  TITLE     Cloning of the sulphamidase gene and identification of mutations in
            Sanfilippo A syndrome
  JOURNAL   Nat Genet 11 (4), 465-467 (1995)
   PUBMED   7493035
REFERENCE   9  (bases 1 to 2705)
  AUTHORS   Wagner,V.F. and Northrup,H.
  TITLE     Mucopolysaccharidosis Type III
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31536183
REFERENCE   10 (bases 1 to 2705)
  AUTHORS   van de Kamp,J.J., Niermeijer,M.F., von Figura,K. and Giesberts,M.A.
  TITLE     Genetic heterogeneity and clinical variability in the Sanfilippo
            syndrome (types A, B, and C)
  JOURNAL   Clin Genet 20 (2), 152-160 (1981)
   PUBMED   6796310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC319407.1, U30894.1,
            BU685248.1 and BP198470.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000199.4.
            
            Summary: This gene encodes the enzyme sulfamidase; one of several
            enzymes involved in the lysosomal degradation of heparan sulfate.
            Mutations in this gene are associated with the lysosomal storage
            disease mucopolysaccaridosis IIIA, also known as Sanfilippo
            syndrome A, which results from impaired degradation of heparan
            sulfate. Transcripts of varying sizes have been reported but their
            biological validity has not been determined. [provided by RefSeq,
            Jun 2017].
            
            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 :: SRR1803613.229971.1, BC047318.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326317.11/ ENSP00000314606.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DC319407.1         68-84
            18-2113             U30894.1           10-2105
            2114-2384           BU685248.1         334-604             c
            2385-2705           BP198470.1         167-487
FEATURES             Location/Qualifiers
     source          1..2705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2705
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-sulfoglucosamine sulfohydrolase"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
     exon            1..108
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1529
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /EC_number="3.10.1.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; heparan sulfate sulfatase; sulfoglucosamine
                     sulfamidase; sulphamidase; mucopolysaccharidosis type
                     IIIA"
                     /codon_start=1
                     /product="N-sulphoglucosamine sulphohydrolase isoform 1
                     precursor"
                     /protein_id="NP_000190.1"
                     /db_xref="CCDS:CCDS11770.1"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
                     /translation="MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSA
                     IATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFD
                     KVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVR
                     KFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPL
                     DVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGI
                     PFPSGRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYA
                     IFGSKTIHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNF
                     KMPFPIDQDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQN
                     LATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL"
     exon            109..269
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            270..375
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            376..526
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            527..683
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            684..765
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            766..969
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     exon            970..2705
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AGTAAA"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AATATA"
     polyA_site      2691
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="major polyA site"
     polyA_site      2705
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="major polyA site"
ORIGIN      
        1 gagtccgagc cgccgccgcc atgagctgcc ccgtgcccgc ctgctgcgcg ctgctgctag
       61 tcctggggct ctgccgggcg cgtccccgga acgcactgct gctcctcgcg gatgacggag
      121 gctttgagag tggcgcgtac aacaacagcg ccatcgccac cccgcacctg gacgccttgg
      181 cccgccgcag cctcctcttt cgcaatgcct tcacctcggt cagcagctgc tctcccagcc
      241 gcgccagcct cctcactggc ctgccccagc atcagaatgg gatgtacggg ctgcaccagg
      301 acgtgcacca cttcaactcc ttcgacaagg tgcggagcct gccgctgctg ctcagccaag
      361 ctggtgtgcg cacaggcatc atcgggaaga agcacgtggg gccggagacc gtgtacccgt
      421 ttgactttgc gtacacggag gagaatggct ccgtcctcca ggtggggcgg aacatcacta
      481 gaattaagct gctcgtccgg aaattcctgc agactcagga tgaccggcct ttcttcctct
      541 acgtcgcctt ccacgacccc caccgctgtg ggcactccca gccccagtac ggaaccttct
      601 gtgagaagtt tggcaacgga gagagcggca tgggtcgtat cccagactgg accccccagg
      661 cctacgaccc actggacgtg ctggtgcctt acttcgtccc caacaccccg gcagcccgag
      721 ccgacctggc cgctcagtac accaccgtcg gccgcatgga ccaaggagtt ggactggtgc
      781 tccaggagct gcgtgacgcc ggtgtcctga acgacacact ggtgatcttc acgtccgaca
      841 acgggatccc cttccccagc ggcaggacca acctgtactg gccgggcact gctgaaccct
      901 tactggtgtc atccccggag cacccaaaac gctggggcca agtcagcgag gcctacgtga
      961 gcctcctaga cctcacgccc accatcttgg attggttctc gatcccgtac cccagctacg
     1021 ccatctttgg ctcgaagacc atccacctca ctggccggtc cctcctgccg gcgctggagg
     1081 ccgagcccct ctgggccacc gtctttggca gccagagcca ccacgaggtc accatgtcct
     1141 accccatgcg ctccgtgcag caccggcact tccgcctcgt gcacaacctc aacttcaaga
     1201 tgccctttcc catcgaccag gacttctacg tctcacccac cttccaggac ctcctgaacc
     1261 gcaccacagc tggtcagccc acgggctggt acaaggacct ccgtcattac tactaccggg
     1321 cgcgctggga gctctacgac cggagccggg acccccacga gacccagaac ctggccaccg
     1381 acccgcgctt tgctcagctt ctggagatgc ttcgggacca gctggccaag tggcagtggg
     1441 agacccacga cccctgggtg tgcgcccccg acggcgtcct ggaggagaag ctctctcccc
     1501 agtgccagcc cctccacaat gagctgtgac catcccagga ggcctgtgca cacatcccag
     1561 gcatgtccca gacacatccc acacgtgtcc gtgtggccgg ccagcctggg gagtagtggc
     1621 aacagccctt ccgtccacac tcccatccaa ggagggttct tccttcctgt ggggtcactc
     1681 ttgccattgc ctggaggggg accagagcat gtgaccagag catgtgccca gcccctccac
     1741 caccaggggc actgccgtca tggcagggga cacagttgtc cttgtgtctg aaccatgtcc
     1801 cagcacggga attctagaca tacgtggtct gcggacaggg cagcgccccc agcccatgac
     1861 aagggagtct tgttttctgg cttggtttgg ggacctgcaa atgggaggcc tgaggccctc
     1921 ttcaggcttt ggcagccaca gatacttctg aacccttcac agagagcagg caggggcttc
     1981 ggtgccgcgt gggcagtacg caggtcccac cgacactcac ctgggagcac ggcgcctggc
     2041 tcttaccagc gtctggccta gaggaagcct ttgagcgacc tttgggcagg tttctgcttc
     2101 ttctgttttg ccccatggtc aagtccctgt tccccaggca ggtttcagct gattggcagc
     2161 aggctccctg agtgatgagc ttgaacctgt ggtgtttctg ggcagaagct tatctttttt
     2221 gagagtgtcc gaagatgaag gcatggcgat gcccgtcctc tggcttgggt taattcttcg
     2281 gtgacactgg cattgctggg tggtgatgcc cgtcctctgg cttgggttaa ttcttcggtg
     2341 acactggcgt tgctgggtgg caatgcccat cctctgcctt gggttaattc ttcggtgaca
     2401 ctggcgttgc tgggtggcga tgcccgtcct ctggcttggg ttaattcttg gatgacgtcg
     2461 gcgttgctgg gagaatgtgc cgttcctgcc ctgcctccac ccacctcggg agcagaagcc
     2521 cggcctggac acccctcggc ctggacaccc ctcgaaggag agggcgcttc cttgagtagg
     2581 tgggctcccc ttgcccttcc ctccctatca ctccatactg gggtgggctg gaggaggcca
     2641 caggccagct attgtaaaag ctttttattt tagtaaaata tacagaagtt ctttttctga
     2701 actca
//
