LOCUS       NM_001352906            2982 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens arylsulfatase G (ARSG), transcript variant 10, mRNA.
ACCESSION   NM_001352906
VERSION     NM_001352906.2
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 2982)
  AUTHORS   Igelman,A.D., Ku,C., da Palma,M.M., Georgiou,M., Schiff,E.R.,
            Lam,B.L., Sankila,E.M., Ahn,J., Pyers,L., Vincent,A., Ferraz
            Sallum,J.M., Zein,W.M., Oh,J.K., Maldonado,R.S., Ryu,J.,
            Tsang,S.H., Gorin,M.B., Webster,A.R., Michaelides,M., Yang,P. and
            Pennesi,M.E.
  TITLE     Expanding the clinical phenotype in patients with disease causing
            variants associated with atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (6), 664-673 (2021)
   PUBMED   34223797
  REMARK    GeneRIF: Expanding the clinical phenotype in patients with disease
            causing variants associated with atypical Usher syndrome.
REFERENCE   2  (bases 1 to 2982)
  AUTHORS   Fowler,N.H., El-Rashedy,M.I., Chishti,E.A., Vander Kooi,C.W. and
            Maldonado,R.S.
  TITLE     Multimodal imaging and genetic findings in a case of ARSG-related
            atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (3), 338-343 (2021)
   PUBMED   33629623
  REMARK    GeneRIF: Multimodal imaging and genetic findings in a case of
            ARSG-related atypical Usher syndrome.
REFERENCE   3  (bases 1 to 2982)
  AUTHORS   Peter,V.G., Quinodoz,M., Sadio,S., Held,S., Rodrigues,M.,
            Soares,M., Sousa,A.B., Coutinho Santos,L., Damme,M. and Rivolta,C.
  TITLE     New clinical and molecular evidence linking mutations in ARSG to
            Usher syndrome type IV
  JOURNAL   Hum Mutat 42 (3), 261-271 (2021)
   PUBMED   33300174
  REMARK    GeneRIF: New clinical and molecular evidence linking mutations in
            ARSG to Usher syndrome type IV.
            Erratum:[Hum Mutat. 2022 Dec;43(12):2326-2327. doi:
            10.1002/humu.24496.. PMID: 36317447]
REFERENCE   4  (bases 1 to 2982)
  AUTHORS   Siokas,V., Kardaras,D., Aloizou,A.M., Asproudis,I., Boboridis,K.G.,
            Papageorgiou,E., Spandidos,D.A., Tsatsakis,A., Tsironi,E.E. and
            Dardiotis,E.
  TITLE     Lack of Association of the rs11655081 ARSG Gene with Blepharospasm
  JOURNAL   J Mol Neurosci 67 (3), 472-476 (2019)
   PUBMED   30656493
  REMARK    GeneRIF: No association of rs11655081 ARSG with blepharospasm was
            found in a Greek cohort.
REFERENCE   5  (bases 1 to 2982)
  AUTHORS   Kowalewski,B., Lamanna,W.C., Lawrence,R., Damme,M., Stroobants,S.,
            Padva,M., Kalus,I., Frese,M.A., Lubke,T., Lullmann-Rauch,R.,
            D'Hooge,R., Esko,J.D. and Dierks,T.
  TITLE     Arylsulfatase G inactivation causes loss of heparan sulfate
            3-O-sulfatase activity and mucopolysaccharidosis in mice
  JOURNAL   Proc Natl Acad Sci U S A 109 (26), 10310-10315 (2012)
   PUBMED   22689975
REFERENCE   6  (bases 1 to 2982)
  AUTHORS   Hong,K.W., Go,M.J., Jin,H.S., Lim,J.E., Lee,J.Y., Han,B.G.,
            Hwang,S.Y., Lee,S.H., Park,H.K., Cho,Y.S. and Oh,B.
  TITLE     Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related
            to blood pressure and/or hypertension in two Korean cohorts
  JOURNAL   J Hum Hypertens 24 (6), 367-372 (2010)
   PUBMED   19960030
  REMARK    GeneRIF: Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1
            were present, which have been shown to be associated with high
            blood pressure and hypertension in two Korean cohorts.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2982)
  AUTHORS   Frese,M.A., Schulz,S. and Dierks,T.
  TITLE     Arylsulfatase G, a novel lysosomal sulfatase
  JOURNAL   J Biol Chem 283 (17), 11388-11395 (2008)
   PUBMED   18283100
  REMARK    GeneRIF: Arylsulfatase G is a novel lysosomal sulfatase and its
            expression is tissue-specific with highest expression in liver,
            kidney, and pancreas
REFERENCE   8  (bases 1 to 2982)
  AUTHORS   Sardiello,M., Annunziata,I., Roma,G. and Ballabio,A.
  TITLE     Sulfatases and sulfatase modifying factors: an exclusive and
            promiscuous relationship
  JOURNAL   Hum Mol Genet 14 (21), 3203-3217 (2005)
   PUBMED   16174644
REFERENCE   9  (bases 1 to 2982)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 2982)
  AUTHORS   Ferrante,P., Messali,S., Meroni,G. and Ballabio,A.
  TITLE     Molecular and biochemical characterisation of a novel sulphatase
            gene: Arylsulfatase G (ARSG)
  JOURNAL   Eur J Hum Genet 10 (12), 813-818 (2002)
   PUBMED   12461688
  REMARK    GeneRIF: molecular cloning and biochemical characterization of
            Arylsulfatase G [ARSG]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005332.1, AC007780.10 and
            CA308403.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001352906.1.
            
            Summary: The protein encoded by this gene belongs to the sulfatase
            enzyme family. Sulfatases hydrolyze sulfate esters from sulfated
            steroids, carbohydrates, proteoglycans, and glycolipids. They are
            involved in hormone biosynthesis, modulation of cell signaling, and
            degradation of macromolecules. This protein displays arylsulfatase
            activity at acidic pH, as is typical of lysosomal sulfatases, and
            has been shown to localize in the lysosomes. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jun 2012].
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                AC005332.1         36762-36835         c
            75-843              AC005332.1         20619-21387         c
            844-1031            AC007780.10        19485-19672
            1032-1079           AC007780.10        23006-23053
            1080-1191           AC007780.10        27456-27567
            1192-1329           AC007780.10        32548-32685
            1330-1523           AC007780.10        44432-44625
            1524-1604           AC007780.10        46325-46405
            1605-1713           AC007780.10        60945-61053
            1714-1834           AC007780.10        70954-71074
            1835-1925           AC007780.10        77241-77331
            1926-2243           AC007780.10        96070-96387
            2244-2955           AC007780.10        104518-105229
            2956-2982           CA308403.1         15-41               c
FEATURES             Location/Qualifiers
     source          1..2982
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..2982
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /note="arylsulfatase G"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
     exon            1..74
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            75..843
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     CDS             626..2200
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /EC_number="3.1.6.1"
                     /EC_number="3.1.6.15"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 10; ASG; N-sulfoglucosamine-3-sulfatase"
                     /codon_start=1
                     /product="arylsulfatase G isoform 2 precursor"
                     /protein_id="NP_001339835.1"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
                     /translation="MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILAD
                     DMGWGDLGANWAETKDTANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGV
                     TRNFAVTSVGGLPLNETTLAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIP
                     YSHDMGCTDTPGYNHPPCPACPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSS
                     LAQKYAEKATQFIQRASSGRPFLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMD
                     SLVGQIKDKVDHTVKENTFLWFTGDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQT
                     TWEGGHRVPALAYWPGRVPVNVTSTALLSVLDIFPTVVALAQASLPQGRRFDGVDVSE
                     VLFGRSQPGHRVLFHPNSGAAGEFGALQTVRLERYKAFYITGGARACDGSTGPELQHK
                     FPLIFNLEDDTAEAVPLERGGAEYQAVLPEVRKVLADVLQDIANDNISSADYTQDPSV
                     TPCCNPYQIACRCQAA"
     exon            844..1031
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1079
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1191
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1329
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1523
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..1604
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1713
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1834
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..1925
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2243
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..2982
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2957..2962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /note="hexamer: AATAAA"
     polyA_site      2982
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /note="major polyA site"
ORIGIN      
        1 gccgtcccac gtggacctga gccgcgccgg tcgcgcgccc gccagcctgc cgcctgggct
       61 gggggtcacg aaaggaaacc ttacagaaac atgaagccct caaccatctg ctactcagtt
      121 attcggggct gacggcggct tctagaacat ccaggtgttc tgcagatgcg agaactcatc
      181 ctgtagtcac cagatggagt cccaaacagc caagcagatg taaggcctgt gctgtggctc
      241 tgaggccctg aatacagaag ggtcactttc ttagtggcca aagagcagtt gttgacattg
      301 atgtctaatt attgaacacg accagtcatt ttactgagct gcggtgagga aacactgacc
      361 atagaagatc aagccaaatg agggattgca aatttcctga ttcttttgaa ttaggattcc
      421 agatgggggc ctcatttcta cagcccccaa cattcctata gccgttatca ctgccatcac
      481 cactgccacc agcatcttct tgcagattcc acccctgctc cccagagact tcctgctttg
      541 aaagtgagca gaaaggaagc tctcagaaaa atctctagtg gtggctgccg tcgctccaga
      601 caatcggaat cctgccttca ccaccatggg ctggcttttt ctaaaggttt tgttggcggg
      661 agtgagtttc tcaggatttc tttatcctct tgtggatttt tgcatcagtg ggaaaacaag
      721 aggacagaag ccaaactttg tgattatttt ggccgatgac atggggtggg gtgacctggg
      781 agcaaactgg gcagaaacaa aggacactgc caaccttgat aagatggctt cggagggaat
      841 gaggtttgtg gatttccatg cagctgcctc cacctgctca ccctcccggg cttccttgct
      901 caccggccgg cttggccttc gcaatggagt cacacgcaac tttgcagtca cttctgtggg
      961 aggccttccg ctcaacgaga ccaccttggc agaggtgctg cagcaggcgg gttacgtcac
     1021 tgggataata ggcaaatggc atcttggaca ccacggctct tatcacccca acttccgtgg
     1081 ttttgattac tactttggaa tcccatatag ccatgatatg ggctgtactg atactccagg
     1141 ctacaaccac cctccttgtc cagcgtgtcc acagggtgat ggaccatcaa ggaaccttca
     1201 aagagactgt tacactgacg tggccctccc tctttatgaa aacctcaaca ttgtggagca
     1261 gccggtgaac ttgagcagcc ttgcccagaa gtatgctgag aaagcaaccc agttcatcca
     1321 gcgtgcaagc agcgggaggc ccttcctgct ctatgtggct ctggcccaca tgcacgtgcc
     1381 cttacctgtg actcagctac cagcagcgcc acggggcaga agcctgtatg gtgcagggct
     1441 ctgggagatg gacagtctgg tgggccagat caaggacaaa gttgaccaca cagtgaagga
     1501 aaacacattc ctctggttta caggagacaa tggcccgtgg gctcagaagt gtgagctagc
     1561 gggcagtgtg ggtcccttca ctggattttg gcaaactcgt caagggggaa gtccagccaa
     1621 gcagacgacc tgggaaggag ggcaccgggt cccagcactg gcttactggc ctggcagagt
     1681 tccagttaat gtcaccagca ctgccttgtt aagcgtgctg gacatttttc caactgtggt
     1741 agccctggcc caggccagct tacctcaagg acggcgcttt gatggtgtgg acgtctccga
     1801 ggtgctcttt ggccggtcac agcctgggca cagggtgctg ttccacccca acagcggggc
     1861 agctggagag tttggagccc tgcagactgt ccgcctggag cgttacaagg ccttctacat
     1921 taccggtgga gccagggcgt gtgatgggag cacggggcct gagctgcagc ataagtttcc
     1981 tctgattttc aacctggaag acgataccgc agaagctgtg cccctagaaa gaggtggtgc
     2041 ggagtaccag gctgtgctgc ccgaggtcag aaaggttctt gcagacgtcc tccaagacat
     2101 tgccaacgac aacatctcca gcgcagatta cactcaggac ccttcagtaa ctccctgctg
     2161 taatccctac caaattgcct gccgctgtca agccgcataa cagaccaatt tttattccac
     2221 gaggaggagt acctggaaat tagatgatta ccacatgctg agggcacctg acacagagcc
     2281 cggtgcagag cacttgccca ctagaggttt gccactgaga ctgccagtga agaacaaatc
     2341 aatgcaaggg cactgaagct tgtcgttctt ggcgaaggga caactctaca cgaccagctc
     2401 tcgaaaggct gtcttttgaa aagcagtctc ttcacctgtg ggttttgatt aagacacact
     2461 ctcctccatc ctgaggatcc aaattgtaca tataaaggtg tccactggat gacgcaacta
     2521 gcagccgtgg caacttctgg atcctaaggg ccaaggaaaa cataaaccgt gatgacaacg
     2581 aagatgggcg atggattcgc ttccaatgac aaagcccccc tcaccctagc tgtcaccaga
     2641 ttctgccttt gacaaaccct tagcccactg atctggtctg ggcttctggc tattcctttg
     2701 cattctggcc ttgggatcta ctttcaggat tatttcttgt ctttgaacgt gacagtgtgg
     2761 atgaggcaag tgagtgtaga tgctgcgacc ctgcgagaag caatagctag tgaacacatt
     2821 agctccctac atgggacgca gtctccctct gacatgtgtc tctgccctta accaagacag
     2881 aaagggggta aatggaggat tggcttactg tctttgctgg ttagttttgt gaaattttaa
     2941 aaatgttcaa cttttgaata aactccttta aacttcttaa aa
//
