LOCUS       NM_001669               5145 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens arylsulfatase D (ARSD), transcript variant 1, mRNA.
ACCESSION   NM_001669
VERSION     NM_001669.4
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 5145)
  AUTHORS   Lin,Y., Li,C., Xiong,W., Fan,L., Pan,H. and Li,Y.
  TITLE     ARSD, a novel ERalpha downstream target gene, inhibits
            proliferation and migration of breast cancer cells via activating
            Hippo/YAP pathway
  JOURNAL   Cell Death Dis 12 (11), 1042 (2021)
   PUBMED   34725332
  REMARK    GeneRIF: ARSD, a novel ERalpha downstream target gene, inhibits
            proliferation and migration of breast cancer cells via activating
            Hippo/YAP pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5145)
  AUTHORS   Bahramian,S., T Shamsabadi,F., Fazel,A., Delshad,E., Amini,A.,
            Memari,F. and Shafiee,M.
  TITLE     Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA
            ARSD-AS1 gene expression in breast cancer patients and their
            association with oncogenic transcription factors
  JOURNAL   J BUON 25 (4), 1805-1813 (2020)
   PUBMED   33099917
  REMARK    GeneRIF: Evaluation of Arylsulfatase D (ARSD) and long noncoding
            RNA ARSD-AS1 gene expression in breast cancer patients and their
            association with oncogenic transcription factors.
REFERENCE   3  (bases 1 to 5145)
  AUTHORS   Trojani,A., Di Camillo,B., Tedeschi,A., Lodola,M., Montesano,S.,
            Ricci,F., Vismara,E., Greco,A., Veronese,S., Orlacchio,A.,
            Martino,S., Colombo,C., Mura,M., Nichelatti,M., Colosimo,A.,
            Scarpati,B., Montillo,M. and Morra,E.
  TITLE     Gene expression profiling identifies ARSD as a new marker of
            disease progression and the sphingolipid metabolism as a potential
            novel metabolism in chronic lymphocytic leukemia
  JOURNAL   Cancer Biomark 11 (1), 15-28 (2011)
   PUBMED   22820137
  REMARK    GeneRIF: ARSD protein level and IGVH were independently associated
            with the need for therapy of chronic lymphocytic leukemia patients.
REFERENCE   4  (bases 1 to 5145)
  AUTHORS   Savarirayan,R., Boyle,R.J., Masel,J., Rogers,J.G. and
            Sheffield,L.J.
  TITLE     Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal
            type, demonstrating natural history
  JOURNAL   Am J Med Genet A 124A (2), 148-157 (2004)
   PUBMED   14699613
  REMARK    Review article
REFERENCE   5  (bases 1 to 5145)
  AUTHORS   Urbitsch,P., Salzer,M.J., Hirschmann,P. and Vogt,P.H.
  TITLE     Arylsulfatase D gene in Xp22.3 encodes two protein isoforms
  JOURNAL   DNA Cell Biol 19 (12), 765-773 (2000)
   PUBMED   11177574
REFERENCE   6  (bases 1 to 5145)
  AUTHORS   Dooley,T.P., Haldeman-Cahill,R., Joiner,J. and Wilborn,T.W.
  TITLE     Expression profiling of human sulfotransferase and sulfatase gene
            superfamilies in epithelial tissues and cultured cells
  JOURNAL   Biochem Biophys Res Commun 277 (1), 236-245 (2000)
   PUBMED   11027669
REFERENCE   7  (bases 1 to 5145)
  AUTHORS   Puca,A.A., Zollo,M., Repetto,M., Andolfi,G., Guffanti,A., Simon,G.,
            Ballabio,A. and Franco,B.
  TITLE     Identification by shotgun sequencing, genomic organization, and
            functional analysis of a fourth arylsulfatase gene (ARSF) from the
            Xp22.3 region
  JOURNAL   Genomics 42 (2), 192-199 (1997)
   PUBMED   9192838
REFERENCE   8  (bases 1 to 5145)
  AUTHORS   Glaser,B., Grutzner,F., Taylor,K., Schiebel,K., Meroni,G.,
            Tsioupra,K., Pasantes,J., Rietschel,W., Toder,R., Willmann,U.,
            Zeitler,S., Yen,P., Ballabio,A., Rappold,G. and Schempp,W.
  TITLE     Comparative mapping of Xp22 genes in hominoids--evolutionary linear
            instability of their Y homologues
  JOURNAL   Chromosome Res 5 (3), 167-176 (1997)
   PUBMED   9246409
REFERENCE   9  (bases 1 to 5145)
  AUTHORS   Meroni,G., Franco,B., Archidiacono,N., Messali,S., Andolfi,G.,
            Rocchi,M. and Ballabio,A.
  TITLE     Characterization of a cluster of sulfatase genes on Xp22.3 suggests
            gene duplications in an ancestral pseudoautosomal region
  JOURNAL   Hum Mol Genet 5 (4), 423-431 (1996)
   PUBMED   8845834
REFERENCE   10 (bases 1 to 5145)
  AUTHORS   Franco,B., Meroni,G., Parenti,G., Levilliers,J., Bernard,L.,
            Gebbia,M., Cox,L., Maroteaux,P., Sheffield,L., Rappold,G.A.,
            Andria,G., Petit,C. and Ballabio,A.
  TITLE     A cluster of sulfatase genes on Xp22.3: mutations in
            chondrodysplasia punctata (CDPX) and implications for warfarin
            embryopathy
  JOURNAL   Cell 81 (1), 15-25 (1995)
   PUBMED   7720070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA869167.1, BC020229.1,
            AK314479.1, AC005295.1 and AI289224.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001669.3.
            
            Summary: The protein encoded by this gene is a member of the
            sulfatase family. Sulfatases are essential for the correct
            composition of bone and cartilage matrix. The encoded protein is
            postranslationally glycosylated and localized to the lysosome. This
            gene is located within a cluster of similar arylsulfatase genes on
            chromosome X. A related pseudogene has been identified in the
            pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul
            2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (alpha).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK314479.1, HM005546.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381154.6/ ENSP00000370546.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DA869167.1         37-72
            37-834              BC020229.1         1-798
            835-1653            AK314479.1         835-1653
            1654-4780           AC005295.1         27614-30740         c
            4781-5145           AI289224.1         19-383              c
FEATURES             Location/Qualifiers
     source          1..5145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..5145
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /note="arylsulfatase D"
                     /db_xref="GeneID:414"
                     /db_xref="HGNC:HGNC:717"
                     /db_xref="MIM:300002"
     exon            1..108
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1846
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /EC_number="3.1.6.1"
                     /note="isoform alpha precursor is encoded by transcript
                     variant 1; testis tissue sperm-binding protein Li 39a"
                     /codon_start=1
                     /product="arylsulfatase D isoform alpha precursor"
                     /protein_id="NP_001660.2"
                     /db_xref="CCDS:CCDS35196.1"
                     /db_xref="GeneID:414"
                     /db_xref="HGNC:HGNC:717"
                     /db_xref="MIM:300002"
                     /translation="MRSAARRGRAAPAARDSLPVLLFLCLLLKTCEPKTANAFKPNIL
                     LIMADDLGTGDLGCYGNNTLRTPNIDQLAEEGVRLTQHLAAAPLCTPSRAAFLTGRHS
                     FRSGMDASNGYRALQWNAGSGGLPENETTFARILQQHGYATGLIGKWHQGVNCASRGD
                     HCHHPLNHGFDYFYGMPFTLTNDCDPGRPPEVDAALRAQLWGYTQFLALGILTLAAGQ
                     TCGFFSVSARAVTGMAGVGCLFFISWYSSFGFVRRWNCILMRNHDVTEQPMVLEKTAS
                     LMLKEAVSYIERHKHGPFLLFLSLLHVHIPLVTTSAFLGKSQHGLYGDNVEEMDWLIG
                     KVLNAIEDNGLKNSTFTYFTSDHGGHLEARDGHSQLGGWNGIYKGGKGMGGWEGGIRV
                     PGIFHWPGVLPAGRVIGEPTSLMDVFPTVVQLVGGEVPQDRVIDGHSLVPLLQGAEAR
                     SAHEFLFHYCGQHLHAARWHQKDSGSVWKVHYTTPQFHPEGAGACYGRGVCPCSGEGV
                     THHRPPLLFDLSRDPSEARPLTPDSEPLYHAVIARVGAAVSEHRQTLSPVPQQFSMSN
                     ILWKPWLQPCCGHFPFCSCHEDGDGTP"
     exon            109..258
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            259..380
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            381..503
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            504..927
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1064
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1199
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1362
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1484
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..5145
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5122..5127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /note="hexamer: AATAAA"
     polyA_site      5145
                     /gene="ARSD"
                     /gene_synonym="ASD"
                     /note="major polyA site"
ORIGIN      
        1 actagcggcg cccgggcgcg gagtgcgcag ggcaaggtcc tgcgctctgg gccagcgctc
       61 ggccatgcga tccgccgcgc ggaggggacg cgccgcgccc gccgccaggg actctttgcc
      121 ggtgctactg tttttatgct tgcttctgaa gacgtgtgaa cctaaaactg caaatgcctt
      181 taaaccaaat atcctactga tcatggcgga tgatctaggc actggggatc tcggttgcta
      241 cgggaacaat acactgagaa cgccgaatat tgaccagctt gcagaggaag gtgtgaggct
      301 cactcagcac ctggcggccg ccccgctctg caccccaagc cgagctgcat tcctcacagg
      361 gagacattcc ttcagatcag gcatggacgc cagcaatgga taccgggccc ttcagtggaa
      421 cgcaggctca ggtggactcc ctgagaacga aaccactttt gcaagaatct tgcagcagca
      481 tggctatgca accggcctca taggaaaatg gcaccagggt gtgaattgtg catcccgcgg
      541 ggatcactgc caccaccccc tgaaccacgg atttgactat ttctacggca tgcccttcac
      601 gctcacaaac gactgtgacc caggcaggcc ccccgaagtg gacgccgccc tgagggcgca
      661 gctctggggt tacacccagt tcctggcgct ggggattctc accctggctg ccggccagac
      721 ctgcggtttc ttctctgtct ccgcgagagc agtcaccggc atggccggcg tgggctgcct
      781 gtttttcatc tcttggtact cctccttcgg gtttgtgcga cgctggaact gtatcctgat
      841 gagaaaccat gacgtcacgg agcaacccat ggttctggag aaaacagcga gtcttatgct
      901 aaaggaagct gtttcctata ttgaaagaca caagcatggg ccatttctcc tcttcctttc
      961 tttgctgcat gtgcacattc cccttgtgac cacgagtgca ttcctgggga aaagtcagca
     1021 tggcttatat ggtgataatg tggaggagat ggactggctc ataggtaagg ttcttaatgc
     1081 catcgaagac aatggtttaa agaactcaac attcacgtat ttcacctctg accatggagg
     1141 acatttagag gcaagagatg gacacagcca gttaggggga tggaacggaa tttacaaagg
     1201 tgggaagggc atgggaggat gggaaggtgg gatccgcgtg cccgggatct tccactggcc
     1261 gggggtgctc ccggccggcc gagtgattgg agagcccacg agcctgatgg acgtgttccc
     1321 tactgtggtc cagctggtgg gtggcgaggt gccccaggac agggtgattg atggccacag
     1381 cctggtaccc ttgctgcagg gagctgaggc acgctcggca catgagttcc tgtttcatta
     1441 ctgtgggcag catcttcacg cagcacgctg gcaccagaag gacagtggaa gcgtctggaa
     1501 ggttcattac acgaccccgc agttccaccc cgagggagcg ggggcctgct acggccgagg
     1561 cgtctgccca tgctccgggg agggcgtgac ccatcacaga ccccctttgc tctttgacct
     1621 ctccagggac ccctccgagg cacggcccct gacccccgac tccgagcccc tgtaccacgc
     1681 cgtgatagca agggtaggtg ccgcggtgtc ggagcatcgg cagaccctga gtcctgtgcc
     1741 ccagcagttt tccatgagca acatcctgtg gaagccgtgg ctgcagccgt gctgcggaca
     1801 tttcccgttc tgttcatgcc acgaggatgg ggatggcacc ccctgaatgc caggactgtg
     1861 agagaggatc caggagagcc tgactgcgtt gcaaacaaaa ttctccaagc ttggttctat
     1921 cttcagcttc cctttttgca aggaacatgc cctggactga gagtgggtcc ccactttctt
     1981 tctttctttc tttctttttt gagacagagt gtcgctctgt ccctcaggct ggaatgcaat
     2041 ggcacgatct ctgctcactg caacctccgc ctcccgggtt caagcgattt tcctgcctca
     2101 gcctcctgag tacccaggat tacaggcacc aggcacctgc caccatgcct agctaatttt
     2161 tgtagtttta gtagagacag ggtttcacca tgttgcccag gctggtctcg cactcctgac
     2221 ctcaagtcat ccacctgcct cagcctccca aagtgctggg attacaggca cgagccactg
     2281 cgcccatgta gggtttccct ttcctgattt gtgaaataag actgtcccag taggcaccca
     2341 ctgatgcctc ctcttcctct tctaaatctc agggttcgtc attgtgccaa tgcccgatgt
     2401 tttcacccct ccgtcttaaa gcattgttgc aatttcatca cctagatgac ataacagcct
     2461 tacaaaagga cagggaggag tgtctgttcc tactctcaca tagcggagga aagttagagc
     2521 ctctcagtct ctgtttatga ggactcatta atctcaaata attgatgcat ttttcataca
     2581 ttagggtctc tgtccatgtg tcttcctgat attgttatag aaatggcttc aggctgctgg
     2641 taacagatgc tgcggaaaaa gaatgcctta aacaaagcca ggcacggtga ctcacacctg
     2701 taatcccagc actttgggag gctaaggtgg gaggatcact tgagcctagg agttagacac
     2761 ctacccagcc tgagcaacac agtgagacct catctctaca aaaaacaaat aattagctag
     2821 atgtcgtggc gcacagctgt agtctcagct acttaggagg ctgaggcggg aggattattt
     2881 gagcctggga ggtcaaaact gcaatgagct aagattgcac tactgcactc cgggctggga
     2941 gacagagtaa gaccctgcct taaaaaaaaa aaaaaaaaaa tgccttaaag aaaataataa
     3001 gagaagggtg tgttctcttc caagtaatga gccgatcaag gggaagcaac ccaaggctag
     3061 caggctcttt tcaattccca gctctgccac tcttagcatg gcagagagtt ggcctcatta
     3121 tgccagtatg gctgccacag tgtcagacat cacattccag gcagtggaaa ggagaaagaa
     3181 ccaaagggca tccctttctc ttgaagcagt ccctgtgagg ggggattatc tggaagcccc
     3241 aacccaattt ctgcttccaa ccattatcca tagaaacaac tggaagttga gaagtgcagt
     3301 cttttaggtg ggcacctggc tgccctgtat gaaaccagaa ttaggttggt cagcaggaaa
     3361 acaagaaaac acttactgtg ttgactgagg tttttgacgc atcgctttat tgtcaaatta
     3421 aacaactcta tctcattctg cactgaaaca cgtactacca ttgcctataa ttggaaaatg
     3481 atcctcagag gcacagaaga tgccctgatg gaaagtttgc cccttgggca aagagacagc
     3541 catgggaacc ttcagacata gagagagaag gtggcttttc tccctacatt cctcaaatag
     3601 ctaagatttg gccagtgtgt tttctaagtc aattctagtg tgtttcatcc tcacctcttc
     3661 cctctgtggc tttgatgatg gaagtgtagt cctaacctac tgcacagctg ggaccccctg
     3721 cccctagatc ccaatactgg ggatgggagg accttgcact attcccctca gtccatctat
     3781 cgaggtcttt gcaggaagca tactgggaat tgaaacgaga gcctaaatga catctaagaa
     3841 aggcagtgtt caataccagg tattaggtga ggatgggatt ctaaggacat cagtgggagg
     3901 cagggagcca ccttcagacc tcagcatgga agcttccaag atccagagga agaggcaaca
     3961 gcactgagag tcataggtag aagaatcatc acagccctgc taaccaggca gctgatgccc
     4021 ctctcccctg gctccctgtg tccaaatcct acaggggcat ctgttggctg aactcaacct
     4081 gaagccaaag agaagatgag tggagagagg caacatttat agagctcagg tttctagggc
     4141 tggagaggga tctggaggga cacacaggag acacctggca taaccaaaaa atgattaaaa
     4201 aaaaaaaaaa aaagaaacat ctatggagca tgggacacgg ggagtggagg cagctaaaag
     4261 ccatctcatc tttcaccgta ttcaacaagc ccattataac aagtctttca cgctcaacca
     4321 ttcaaacaat cccaacaatc ccagcctaag aatttcctgg catttgatga aaatggctgt
     4381 gggttttgct atctttaagc tccctgggaa gcaggatata agcccagggc tggcaggctc
     4441 tttctagcta cctgctcttg cacatagagt ttgcctcatg gttgcaagaa ggctgccata
     4501 gctccagatg gcacatagac attccaggca gcaggaaaaa ggaaggagca cttaaccgaa
     4561 ggaggtcagg gagttggtta gtctccacct gaagaagaga gccatgaacc agcttcagtt
     4621 gactaacggg ctcctgtgag tgcatctttg gacttttctg gaggttgaaa tctagatgtg
     4681 gtatgtgtct taaagcagcc accaactcct cccattacct tccaagtgag cccaactaca
     4741 cgatggagcc tcttccctgc ccttggatct gggctgagcc tctgacttgc gttgaccaac
     4801 agaatgcagt gaaagtgatg ccgatactac cctccctgcc ctagacttgg gatacctggc
     4861 agctatattc ttccattcct caggacttgc aaaaacgggt ctcagcatgc cttcccagag
     4921 ccatgaggtg tttctttgcc cattcattga tctgagaagt gagtgtaagg agtttaaatc
     4981 aacctctgtt ctgtgctagt taaggtaata aagttgctgc agtccagggg gtaggtacct
     5041 gtggacggct ctgcgaatag gacagttgca tttcttggga atcaagtgca tccctaggct
     5101 ggcagtgcag cagaaatact gaataaaatg tgacaaatct ccctg
//
