LOCUS       NM_198150               3365 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens arylsulfatase family member K (ARSK), mRNA.
ACCESSION   NM_198150 XM_087728
VERSION     NM_198150.3
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 3365)
  AUTHORS   Uludag Alkaya,D., Taner,H.E., Yildirim,T., Akpinar,E. and Tuysuz,B.
  TITLE     Further characterization of ARSK-related mucopolysaccharidosis type
            10
  JOURNAL   Am J Med Genet A 194 (8), e63635 (2024)
   PUBMED   38634625
  REMARK    GeneRIF: Further characterization of ARSK-related
            mucopolysaccharidosis type 10.
REFERENCE   2  (bases 1 to 3365)
  AUTHORS   Verheyen,S., Blatterer,J., Speicher,M.R., Bhavani,G.S., Boons,G.J.,
            Ilse,M.B., Andrae,D., Spross,J., Vaz,F.M., Kircher,S.G.,
            Posch-Pertl,L., Baumgartner,D., Lubke,T., Shah,H., Al Kaissi,A.,
            Girisha,K.M. and Plecko,B.
  TITLE     Novel subtype of mucopolysaccharidosis caused by arylsulfatase K
            (ARSK) deficiency
  JOURNAL   J Med Genet 59 (10), 957-964 (2022)
   PUBMED   34916232
REFERENCE   3  (bases 1 to 3365)
  AUTHORS   Dhamale,O.P., Lawrence,R., Wiegmann,E.M., Shah,B.A., Al-Mafraji,K.,
            Lamanna,W.C., Lubke,T., Dierks,T., Boons,G.J. and Esko,J.D.
  TITLE     Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase
  JOURNAL   ACS Chem Biol 12 (2), 367-373 (2017)
   PUBMED   28055182
REFERENCE   4  (bases 1 to 3365)
  AUTHORS   Wiegmann,E.M., Westendorf,E., Kalus,I., Pringle,T.H., Lubke,T. and
            Dierks,T.
  TITLE     Arylsulfatase K, a novel lysosomal sulfatase
  JOURNAL   J Biol Chem 288 (42), 30019-30028 (2013)
   PUBMED   23986440
  REMARK    GeneRIF: Arylsulfatase K, a novel lysosomal sulfatase.
REFERENCE   5  (bases 1 to 3365)
  AUTHORS   Obaya,A.J.
  TITLE     Molecular cloning and initial characterization of three novel human
            sulfatases
  JOURNAL   Gene 372, 110-117 (2006)
   PUBMED   16500042
  REMARK    GeneRIF: The identification, molecular cloning and initial
            characterization of three new members of this human gene family is
            reported.
REFERENCE   6  (bases 1 to 3365)
  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   7  (bases 1 to 3365)
  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]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090071.3, AY875939.1 and AC008547.6.
            
            On May 17, 2019 this sequence version replaced NM_198150.2.
            
            Summary: Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate
            esters from sulfated steroids, carbohydrates, proteoglycans, and
            glycolipids. They are involved in hormone biosynthesis, modulation
            of cell signaling, and degradation of macromolecules (Sardiello et
            al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.82021.1,
                                           SRR1803616.11421.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380009.9/ ENSP00000369346.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC090071.3         177274-177293
            21-178              AC090071.3         177294-177451
            179-1789            AY875939.1         1-1611
            1790-3365           AC008547.6         48351-49926
FEATURES             Location/Qualifiers
     source          1..3365
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q15"
     gene            1..3365
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /note="arylsulfatase family member K"
                     /db_xref="GeneID:153642"
                     /db_xref="HGNC:HGNC:25239"
                     /db_xref="MIM:610011"
     exon            1..304
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..1789
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /EC_number="3.1.6.1"
                     /EC_number="3.1.6.18"
                     /note="arylsulfatase K; telethon sulfatase; ASK;
                     glucuronate-2-sulfatase"
                     /codon_start=1
                     /product="arylsulfatase K precursor"
                     /protein_id="NP_937793.1"
                     /db_xref="CCDS:CCDS4073.1"
                     /db_xref="GeneID:153642"
                     /db_xref="HGNC:HGNC:25239"
                     /db_xref="MIM:610011"
                     /translation="MLLLWVSVVAALALAVLAPGAGEQRRRAAKAPNVVLVVSDSFDG
                     RLTFHPGSQVVKLPFINFMKTRGTSFLNAYTNSPICCPSRAAMWSGLFTHLTESWNNF
                     KGLDPNYTTWMDVMERHGYRTQKFGKLDYTSGHHSISNRVEAWTRDVAFLLRQEGRPM
                     VNLIRNRTKVRVMERDWQNTDKAVNWLRKEAINYTEPFVIYLGLNLPHPYPSPSSGEN
                     FGSSTFHTSLYWLEKVSHDAIKIPKWSPLSEMHPVDYYSSYTKNCTGRFTKKEIKNIR
                     AFYYAMCAETDAMLGEIILALHQLDLLQKTIVIYSSDHGELAMEHRQFYKMSMYEASA
                     HVPLLMMGPGIKAGLQVSNVVSLVDIYPTMLDIAGIPLPQNLSGYSLLPLSSETFKNE
                     HKVKNLHPPWILSEFHGCNVNASTYMLRTNHWKYIAYSDGASILPQLFDLSSDPDELT
                     NVAVKFPEITYSLDQKLHSIINYPKVSASVHQYNKEQFIKWKQSIGQNYSNVIANLRW
                     HQDWQKEPRKYENAIDQWLKTHMNPRAV"
     exon            305..434
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            435..594
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            595..877
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1049
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1274
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1499
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..3365
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3303..3308
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /note="hexamer: ATTAAA"
     polyA_site      3323
                     /gene="ARSK"
                     /gene_synonym="MPS10; TSULF"
                     /note="major polyA site"
ORIGIN      
        1 gtgcgcgctc tccgcctgat aggagttgta gttctgcggg tgaagctcgg cgttactatc
       61 aagcaaccaa actgcaagct ttgggagttg ttcgctgtcc ctgccctgct ctgctaggga
      121 gagaacgcca gagggaggcg gctggcccgg cggcaggctc tcagaaccgc taccggcgat
      181 gctactgctg tgggtgtcgg tggtcgcagc cttggcgctg gcggtactgg cccccggagc
      241 aggggagcag aggcggagag cagccaaagc gcccaatgtg gtgctggtcg tgagcgactc
      301 cttcgatgga aggttaacat ttcatccagg aagtcaggta gtgaaacttc cttttatcaa
      361 ctttatgaag acacgtggga cttcctttct gaatgcctac acaaactctc caatttgttg
      421 cccatcacgc gcagcaatgt ggagtggcct cttcactcac ttaacagaat cttggaataa
      481 ttttaagggt ctagatccaa attatacaac atggatggat gtcatggaga ggcatggcta
      541 ccgaacacag aaatttggga aactggacta tacttcagga catcactcca ttagtaatcg
      601 tgtggaagcg tggacaagag atgttgcttt cttactcaga caagaaggca ggcccatggt
      661 taatcttatc cgtaacagga ctaaagtcag agtgatggaa agggattggc agaatacaga
      721 caaagcagta aactggttaa gaaaggaagc aattaattac actgaaccat ttgttattta
      781 cttgggatta aatttaccac acccttaccc ttcaccatct tctggagaaa attttggatc
      841 ttcaacattt cacacatctc tttattggct tgaaaaagtg tctcatgatg ccatcaaaat
      901 cccaaagtgg tcacctttgt cagaaatgca ccctgtagat tattactctt cttatacaaa
      961 aaactgcact ggaagattta caaaaaaaga aattaagaat attagagcat tttattatgc
     1021 tatgtgtgct gagacagatg ccatgcttgg tgaaattatt ttggcccttc atcaattaga
     1081 tcttcttcag aaaactattg tcatatactc ctcagaccat ggagagctgg ccatggaaca
     1141 tcgacagttt tataaaatga gcatgtacga ggctagtgca catgttccgc ttttgatgat
     1201 gggaccagga attaaagccg gcctacaagt atcaaatgtg gtttctcttg tggatattta
     1261 ccctaccatg cttgatattg ctggaattcc tctgcctcag aacctgagtg gatactcttt
     1321 gttgccgtta tcatcagaaa catttaagaa tgaacataaa gtcaaaaacc tgcatccacc
     1381 ctggattctg agtgaattcc atggatgtaa tgtgaatgcc tccacctaca tgcttcgaac
     1441 taaccactgg aaatatatag cctattcgga tggtgcatca atattgcctc aactctttga
     1501 tctttcctcg gatccagatg aattaacaaa tgttgctgta aaatttccag aaattactta
     1561 ttctttggat cagaagcttc attccattat aaactaccct aaagtttctg cttctgtcca
     1621 ccagtataat aaagagcagt ttatcaagtg gaaacaaagt ataggacaga attattcaaa
     1681 cgttatagca aatcttaggt ggcaccaaga ctggcagaag gaaccaagga agtatgaaaa
     1741 tgcaattgat cagtggctta aaacccatat gaatccaaga gcagtttgaa caaaaagttt
     1801 aaaaatagtg ttctagagat acatataaat atattacaag atcataatta tgtattttaa
     1861 atgaaacagt tttaataatt accaagtttt ggccgggcac agtggctcac acctgtaatc
     1921 ccaggacttt gggaggctga ggaaagcaga tcacaaggtc aagagattga gaccatcctg
     1981 gccaacatgg tgaaaccctg tctctactaa aaatacaaaa attagctggg cgcggtggtg
     2041 cacacctata gtctcagcta ctcagaggct gaggcaggag gatcgcttga acccgggagg
     2101 cagcagttgc agtgagctga gattgcgcca ctgtactcca gcctggcaac agagtgagac
     2161 tgtgtcgcaa aaaaataaaa ataaaataat aataattacc aatttttcat tattttgtaa
     2221 gaatgtagtg tattttaaga taaaatgcca atgattataa aatcacatat tttcaaaaat
     2281 ggttattatt taggcctttg tacaatttct aacaatttag tggaagtatc aaaagaattg
     2341 aagcaaatac tgtaacagtt atgttccttt aaataataga gaatataaaa tattgtaata
     2401 atatgtatca taaaatagtt gtatgtgagc atttgatggt gctcgatgag ttacttgtat
     2461 ttgatgggat tgtttggatg tatttaatgg gagtatttgg agtatttaac gggatgtaaa
     2521 ccctggatgt acctgatttt gttactgttt tattttaata ggtaatatat atacagggta
     2581 aaagcttcaa atggtacaaa agggttaaca gtgatcgtga agtctctgtc ctttccctct
     2641 tccctgccat ccagttcccc ctccaagaag caagtaccga aaccacctgc ttacgcattt
     2701 ttagagattg gccacaaatt tataaacaaa tgtatatatt cctttccccc tacacaaacg
     2761 gtaacatact gcacacattg ttctgcatgt tgcttctttt tccttttttt tttcacttaa
     2821 cagtagatat ctagaggtga aattactgag tcaagactat atttagcaaa attacactag
     2881 atactacaaa ttacctctaa agaaggtata ctaactgata atctcaccat caatgcatgt
     2941 cttcttatcc tttgccaacc taacagataa aaatgttcta tttttatttt tctttttatg
     3001 agtaacgtag agcatatttt catgtattta acagccactg gaatctgctt taccatggcc
     3061 tttcctattt ctattctttg cctatttttc tgttggttgt tggtctttgt tttgtattac
     3121 aggtgtgctt tagatattag ctttttgtaa gagatcctgc aaatatcttc tttccagttt
     3181 gtcattgtca tttgtctttt gactttgttc tggtattttt tgatatgtag aaatttttat
     3241 tttcatgtaa gcaaatttat gaatctttgt acaccataag tatatacaat tatgatttgt
     3301 caattaaaaa tattagtaca aaatttacag atctttgctt ttgtggcttt tgggattttg
     3361 tatca
//
