LOCUS       NM_001267727            2554 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens arylsulfatase G (ARSG), transcript variant 2, mRNA.
ACCESSION   NM_001267727
VERSION     NM_001267727.2
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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 2554)
  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 and AC007780.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 20, 2020 this sequence version replaced NM_001267727.1.
            
            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: 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.
            
            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 :: SRR14478891.32872.1,
                                           SRR14038196.1651692.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621439.5/ ENSP00000480910.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-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
            1330-1526           AC007780.10        44429-44625
            1527-1607           AC007780.10        46325-46405
            1608-1716           AC007780.10        60945-61053
            1717-1837           AC007780.10        70954-71074
            1838-1928           AC007780.10        77241-77331
            1929-2554           AC007780.10        96070-96695
FEATURES             Location/Qualifiers
     source          1..2554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..2554
                     /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..2203
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /EC_number="3.1.6.1"
                     /EC_number="3.1.6.15"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; ASG; N-sulfoglucosamine-3-sulfatase"
                     /codon_start=1
                     /product="arylsulfatase G isoform 1 precursor"
                     /protein_id="NP_001254656.1"
                     /db_xref="CCDS:CCDS11676.1"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
                     /translation="MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILAD
                     DMGWGDLGANWAETKDTANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGV
                     TRNFAVTSVGGLPLNETTLAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIP
                     YSHDMGCTDTPGYNHPPCPACPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSS
                     LAQKYAEKATQFIQRASTSGRPFLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEM
                     DSLVGQIKDKVDHTVKENTFLWFTGDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQ
                     TTWEGGHRVPALAYWPGRVPVNVTSTALLSVLDIFPTVVALAQASLPQGRRFDGVDVS
                     EVLFGRSQPGHRVLFHPNSGAAGEFGALQTVRLERYKAFYITGGARACDGSTGPELQH
                     KFPLIFNLEDDTAEAVPLERGGAEYQAVLPEVRKVLADVLQDIANDNISSADYTQDPS
                     VTPCCNPYQIACRCQAA"
     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..1526
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1607
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1716
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1717..1837
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..1928
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2554
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2521..2526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /note="hexamer: AATAAA"
     polyA_site      2554
                     /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 accagcggga ggcccttcct gctctatgtg gctctggccc acatgcacgt
     1381 gcccttacct gtgactcagc taccagcagc gccacggggc agaagcctgt atggtgcagg
     1441 gctctgggag atggacagtc tggtgggcca gatcaaggac aaagttgacc acacagtgaa
     1501 ggaaaacaca ttcctctggt ttacaggaga caatggcccg tgggctcaga agtgtgagct
     1561 agcgggcagt gtgggtccct tcactggatt ttggcaaact cgtcaagggg gaagtccagc
     1621 caagcagacg acctgggaag gagggcaccg ggtcccagca ctggcttact ggcctggcag
     1681 agttccagtt aatgtcacca gcactgcctt gttaagcgtg ctggacattt ttccaactgt
     1741 ggtagccctg gcccaggcca gcttacctca aggacggcgc tttgatggtg tggacgtctc
     1801 cgaggtgctc tttggccggt cacagcctgg gcacagggtg ctgttccacc ccaacagcgg
     1861 ggcagctgga gagtttggag ccctgcagac tgtccgcctg gagcgttaca aggccttcta
     1921 cattaccggt ggagccaggg cgtgtgatgg gagcacgggg cctgagctgc agcataagtt
     1981 tcctctgatt ttcaacctgg aagacgatac cgcagaagct gtgcccctag aaagaggtgg
     2041 tgcggagtac caggctgtgc tgcccgaggt cagaaaggtt cttgcagacg tcctccaaga
     2101 cattgccaac gacaacatct ccagcgcaga ttacactcag gacccttcag taactccctg
     2161 ctgtaatccc taccaaattg cctgccgctg tcaagccgca taacagacca atttttattc
     2221 cacgaggagg agtacctgga aattaggcaa gtttgcttcc aaatttcatt tttaccctct
     2281 ttacaaacac acgctttagt ttagtcttgg agtttagttt tggagttagc cttgcatatc
     2341 ccttctgtat cctgtccctc ctccacgccg acccgagagc agctgagctg cgctggctct
     2401 gggcagggag tgtgccttaa tgggaagcac acgggctttg gagtcaggca caggtgccag
     2461 ctccagcttt tgaacttggg caattgttta acctaacctg caagttgatt ttgagggtta
     2521 aataaaggca tacatgaaaa tgcctggcaa atta
//
