LOCUS       NM_001352921            2881 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), transcript
            variant 2, mRNA.
ACCESSION   NM_001352921 XM_005257582
VERSION     NM_001352921.3
KEYWORDS    RefSeq.
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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 2881)
  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 AC123764.18, AC087741.18 and
            BP198470.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001352921.2.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR11853560.13228.1,
                                           SRR14038192.1636973.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-108               AC123764.18        51632-51739         c
            109-269             AC123764.18        48438-48598         c
            270-375             AC123764.18        46439-46544         c
            376-526             AC123764.18        46021-46171         c
            527-683             AC123764.18        45578-45734         c
            684-765             AC123764.18        45210-45291         c
            766-969             AC123764.18        43477-43680         c
            970-1984            AC123764.18        41579-42593         c
            1985-2852           AC087741.18        1-868
            2853-2867           BP198470.1         459-473
            2868-2881           AC087741.18        884-897
FEATURES             Location/Qualifiers
     source          1..2881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2881
                     /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..1109
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /EC_number="3.10.1.1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; heparan sulfate sulfatase; sulfoglucosamine
                     sulfamidase; sulphamidase; mucopolysaccharidosis type
                     IIIA"
                     /codon_start=1
                     /product="N-sulphoglucosamine sulphohydrolase isoform 2
                     precursor"
                     /protein_id="NP_001339850.1"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
                     /translation="MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSA
                     IATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFD
                     KVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVR
                     KFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPL
                     DVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGI
                     PFPSGRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLGTEAQRDDVAVRGVGSTR
                     HLPLLIGLEKGAAQSGVGSALPRAAPVC"
     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..2881
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2848..2853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AGTAAA"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AATATA"
     polyA_site      2867
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="major polyA site"
     polyA_site      2881
                     /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 gcctcctagg cactgaggcc cagagagatg acgtggcggt gagaggtgtc ggctcgacaa
     1021 ggcacctccc gctgctgatt ggattggaga agggagccgc ccagagtggc gtaggttcgg
     1081 cccttccgag ggcagctcct gtgtgctgag ggctctgctg ctctgagatg ccgcgtccct
     1141 tccagacctc acgcccacca tcttggattg gttctcgatc ccgtacccca gctacgccat
     1201 ctttggctcg aagaccatcc acctcactgg ccggtccctc ctgccggcgc tggaggccga
     1261 gcccctctgg gccaccgtct ttggcagcca gagccaccac gaggtcacca tgtcctaccc
     1321 catgcgctcc gtgcagcacc ggcacttccg cctcgtgcac aacctcaact tcaagatgcc
     1381 ctttcccatc gaccaggact tctacgtctc acccaccttc caggacctcc tgaaccgcac
     1441 cacagctggt cagcccacgg gctggtacaa ggacctccgt cattactact accgggcgcg
     1501 ctgggagctc tacgaccgga gccgggaccc ccacgagacc cagaacctgg ccaccgaccc
     1561 gcgctttgct cagcttctgg agatgcttcg ggaccagctg gccaagtggc agtgggagac
     1621 ccacgacccc tgggtgtgcg cccccgacgg cgtcctggag gagaagctct ctccccagtg
     1681 ccagcccctc cacaatgagc tgtgaccatc ccaggaggcc tgtgcacaca tcccaggcat
     1741 gtcccagaca catcccacac gtgtccgtgt ggccggccag cctggggagt agtggcaaca
     1801 gcccttccgt ccacactccc atccaaggag ggttcttcct tcctgtgggg tcactcttgc
     1861 cattgcctgg agggggacca gagcatgtga ccagagcatg tgcccagccc ctccaccacc
     1921 aggggcactg ccgtcatggc aggggacaca gttgtccttg tgtctgaacc atgtcccagc
     1981 acgggaattc tagacatacg tggtctgcgg acagggcagc gcccccagcc catgacaagg
     2041 gagtcttgtt ttctggcttg gtttggggac ctgcaaatgg gaggcctgag gccctcttca
     2101 ggctttggca gccacagata cttctgaacc cttcacagag agcaggcagg ggcttcggtg
     2161 ccgcgtgggc agtacgcagg tcccaccgac actcacctgg gagcacggcg cctggctctt
     2221 accagcgtct ggcctagagg aagcctttga gcgacctttg ggcaggtttc tgcttcttct
     2281 gttttgcccc atggtcaagt ccctgttccc caggcaggtt tcagctgatt ggcagcaggc
     2341 tccctgagtg atgagcttga acctgtggtg tttctgggca gaagcttatc ttttttgaga
     2401 gtgtccgaag atgaaggcat ggcgatgccc gtcctctggc ttgggttaat tcttcggtga
     2461 cactggcatt gctgggtggt gatgcccgtc ctctggcttg ggttaattct tcggtgacac
     2521 tggcgttgct gggtggcaat gcccatcctc tgccttgggt taattcttcg gtgacactgg
     2581 cgttgctggg tggcgatgcc cgtcctctgg cttgggttaa ttcttggatg acgtcggcgt
     2641 tgctgggaga atgtgccgtt cctgccctgc ctccacccac ctcgggagca gaagcccggc
     2701 ctggacaccc ctcggcctgg acacccctcg aaggagaggg cgcttccttg agtaggtggg
     2761 ctccccttgc ccttccctcc ctatcactcc atactggggt gggctggagg aggccacagg
     2821 ccagctattg taaaagcttt ttattttagt aaaatataca gaagttcttt ttctgaactc
     2881 a
//
