LOCUS       NM_000047               2219 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens arylsulfatase L (ARSL), transcript variant 2, mRNA.
ACCESSION   NM_000047
VERSION     NM_000047.3
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 2219)
  AUTHORS   Capron,C., Januel,L., Vieville,G., Jaillard,S., Kuentz,P.,
            Salaun,G., Nadeau,G., Clement,P., Brechard,M.P., Herve,B.,
            Dupont,J.M., Gruchy,N., Chambon,P., Abdelhedi,F., Dahlen,E.,
            Vago,P., Harbuz,R., Plotton,I., Coutton,C., Belaud-Rotureau,M.A.,
            Schluth-Bolard,C. and Vialard,F.
  TITLE     Evidence for high breakpoint variability in 46, XX, SRY-positive
            testicular disorder and frequent ARSE deletion that may be
            associated with short stature
  JOURNAL   Andrology 10 (8), 1625-1631 (2022)
   PUBMED   36026611
  REMARK    GeneRIF: Evidence for high breakpoint variability in 46, XX,
            SRY-positive testicular disorder and frequent ARSE deletion that
            may be associated with short stature.
REFERENCE   2  (bases 1 to 2219)
  AUTHORS   Correa,S.C., Rocha,M.N., Richeti,F., Kochi,C., Silva E Lima,L.A.,
            Magalhaes,M. and Longui,C.A.
  TITLE     Neonatal detection of Turner syndrome by real-time PCR gene
            quantification of the ARSE and MAGEH1 genes
  JOURNAL   Genet Mol Res 13 (4), 9068-9076 (2014)
   PUBMED   25366798
  REMARK    GeneRIF: Data indicate that the neonatal detection test sensitivity
            obtained was 95% with a positive predictive value of 1 in the
            analyses for both the arylsulfatase E (ARSE) and melanoma antigen
            family H1 (MAGEH1) genes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2219)
  AUTHORS   Jeon,G.W., Kwon,M.J., Lee,S.J., Sin,J.B. and Ki,C.S.
  TITLE     Clinical and genetic analysis of a Korean patient with X-linked
            chondrodysplasia punctata: identification of a novel splicing
            mutation in the ARSE gene
  JOURNAL   Ann Clin Lab Sci 43 (1), 70-75 (2013)
   PUBMED   23462608
REFERENCE   4  (bases 1 to 2219)
  AUTHORS   Matos-Miranda,C., Nimmo,G., Williams,B., Tysoe,C., Owens,M.,
            Bale,S. and Braverman,N.
  TITLE     A prospective study of brachytelephalangic chondrodysplasia
            punctata: identification of arylsulfatase E mutations, functional
            analysis of novel missense alleles, and determination of potential
            phenocopies
  JOURNAL   Genet Med 15 (8), 650-657 (2013)
   PUBMED   23470839
  REMARK    GeneRIF: Results show that Around 40 perdcent of male patients with
            brachytelephalangic chondrodysplasia punctata do not have
            detectable ARSE mutations or known maternal etiological factors.
REFERENCE   5  (bases 1 to 2219)
  AUTHORS   Daniele,A., Parenti,G., d'Addio,M., Andria,G., Ballabio,A. and
            Meroni,G.
  TITLE     Biochemical characterization of arylsulfatase E and functional
            analysis of mutations found in patients with X-linked
            chondrodysplasia punctata
  JOURNAL   Am J Hum Genet 62 (3), 562-572 (1998)
   PUBMED   9497243
REFERENCE   6  (bases 1 to 2219)
  AUTHORS   Parenti,G., Buttitta,P., Meroni,G., Franco,B., Bernard,L.,
            Rizzolo,M.G., Brunetti-Pierri,N., Ballabio,A. and Andria,G.
  TITLE     X-linked recessive chondrodysplasia punctata due to a new point
            mutation of the ARSE gene
  JOURNAL   Am J Med Genet 73 (2), 139-143 (1997)
   PUBMED   9409863
REFERENCE   7  (bases 1 to 2219)
  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 2219)
  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   9  (bases 1 to 2219)
  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
REFERENCE   10 (bases 1 to 2219)
  AUTHORS   Braverman,N.E., Bober,M.B., Brunetti-Pierri,N. and Suchy,S.F.
  TITLE     Chondrodysplasia Punctata 1, X-Linked
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301713
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005295.1, AK223183.1,
            AK223199.1 and AW779826.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_000047.2.
            
            Summary: Arylsulfatase E is a member of the sulfatase family. It is
            glycosylated postranslationally and localized to the golgi
            apparatus. Sulfatases are essential for the correct composition of
            bone and cartilage matrix. X-linked chondrodysplasia punctata, a
            disease characterized by abnormalities in cartilage and bone
            development, has been linked to mutations in this gene. Alternative
            splicing results in multiple transcript variants. A pseudogene
            related to this gene is located on the Y chromosome. [provided by
            RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' coding region and initiates translation at an alternate start
            codon, compared to variant 1. The encoded isoform (2) has a
            distinct N-terminus and is shorter than isoform 1.
            
            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 :: X83573.1, AK223183.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381134.9/ ENSP00000370526.3
            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
            1-58                AC005295.1         87561-87618         c
            59-632              AK223183.1         1-574
            633-1924            AK223199.1         542-1833
            1925-2108           AW779826.1         1-184               c
            2109-2219           AC005295.1         57798-57908         c
FEATURES             Location/Qualifiers
     source          1..2219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..2219
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="arylsulfatase L"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
     exon            1..118
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            119..161
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..1908
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /EC_number="3.1.6.1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; arylsulfatase E (chondrodysplasia punctata 1)"
                     /codon_start=1
                     /product="arylsulfatase L isoform 2 precursor"
                     /protein_id="NP_000038.2"
                     /db_xref="CCDS:CCDS14122.1"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
                     /translation="MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLM
                     ADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRS
                     GMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCH
                     HPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTH
                     LIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLIL
                     QEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRIL
                     DTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGI
                     FRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDH
                     EFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHH
                     DPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIW
                     RPWLQPCCGPFPLCWCLREDDPQ"
     exon            162..323
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            324..445
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            446..568
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            569..992
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1129
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1264
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1427
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1549
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..2219
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="hexamer: AATAAA"
     polyA_site      1930
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="major polyA site"
ORIGIN      
        1 gttaatcatt cccagctcaa agccttgtgc aagtgctctc tgccttcacg cttgcttcct
       61 ttgggagaga accttcctct tcttgatcgg ggattcagga aggagcccag gagcagagga
      121 agtagagaga gagacaacat gttacatctg caccattctt gtttgtgttt caggagctgg
      181 ctgccagcga tgctcgctgt actgctaagt ttggcaccat cagcttccag cgacatttcc
      241 gcctcccgac cgaacatcct tcttctgatg gcggacgacc ttggcattgg ggacattggc
      301 tgctatggca acaacaccat gaggactccg aatattgacc gccttgcaga ggacggcgtg
      361 aagctgaccc aacacatctc tgccgcatct ttgtgcaccc caagcagagc cgccttcctc
      421 acgggcagat accctgtgcg atcagggatg gtttccagca ttggttaccg tgttcttcag
      481 tggaccggag catctggagg tcttccaaca aatgagacaa cttttgcaaa aatactgaaa
      541 gagaaaggct atgccactgg actcattgga aaatggcatc tgggtctcaa ctgtgagtca
      601 gccagtgatc attgccacca ccctctccat catggctttg accatttcta cggaatgcct
      661 ttctccttga tgggtgattg cgcccgctgg gaactctcag agaagcgtgt caacctggaa
      721 caaaaactca acttcctctt ccaagtcctg gccttggttg ccctcacact ggtagcaggg
      781 aagctcacac acctgatacc cgtctcgtgg atgccggtca tctggtcagc cctttcggcc
      841 gtcctcctcc tcgcaagctc ctattttgtg ggtgctctga ttgtccatgc cgattgcttt
      901 ctgatgagaa accacaccat cacggagcag cccatgtgct tccaaagaac gacacccctt
      961 attctgcagg aggttgcgtc ctttctcaaa aggaataagc atgggccttt cctcctcttt
     1021 gtttcctttc tacacgttca catccctctt atcactatgg agaacttcct cgggaagagt
     1081 ctccacgggc tgtatgggga caacgtagag gagatggact ggatggtagg acggatcctt
     1141 gacactttgg acgtggaggg tttgagcaac agcaccctca tttattttac gtcggatcac
     1201 ggcggttccc tagagaatca acttggaaac acccagtatg gtggctggaa tggaatttat
     1261 aaaggtggga agggcatggg aggatgggaa ggtgggatcc gcgtgcccgg gatcttccgc
     1321 tggcccgggg tgctcccggc cggccgagtg attggcgagc ccacgagtct gatggacgtg
     1381 ttccccaccg tggtccggct ggcgggcggc gaggtgcccc aggacagagt gattgacggc
     1441 caagaccttc tgcccttgct cctggggaca gcccaacact cagaccacga gttcctgatg
     1501 cattattgtg agaggtttct gcacgcagcc aggtggcatc aacgggacag aggaacaatg
     1561 tggaaagtcc actttgtgac gcctgtgttc cagccagagg gagccggtgc ctgctatgga
     1621 agaaaggtct gcccgtgctt tggggaaaaa gtagtccacc acgatccacc tttgctcttt
     1681 gacctctcaa gagacccttc tgagacccac atcctcacac cagcctcaga gcccgtgttc
     1741 tatcaggtga tggaacgagt ccagcaggcg gtgtgggaac accagcggac actcagccca
     1801 gttcctctgc agctggacag gctgggcaac atctggagac cgtggctgca gccctgctgt
     1861 ggcccgttcc ccctctgctg gtgccttagg gaagatgacc cacaataaat gtctgcagtg
     1921 aaaagctgga gccccgattc ctaaattttg tcactcaaat tgaaacaaac cagctggcca
     1981 tggtggttgt catcccagca ctttaggagg ccaccacagg aggatcactc ccgtgatcaa
     2041 aaccaacctg ggcaacatga tgaaactcta gctctacaaa acaaaaataa aaaaaaaatt
     2101 agcctgcatg gtggcacacg cctgtagttc tagcttctca ggaggctaag gcaggaggat
     2161 catttgagca ccggagttgg aggctgtact gagctatgat tgtaccactg caccccagc
//
