LOCUS       NM_000487               4294 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA.
ACCESSION   NM_000487
VERSION     NM_000487.6
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 4294)
  AUTHORS   Li,T., Huang,Y., Tao,C., Yin,X., Su,X., Shao,Y., Liang,C.,
            Jiang,M., Cai,Y., Lin,Y., Zeng,C., Zhao,X., Liu,L. and Zhang,W.
  TITLE     Biochemical and molecular analysis of pediatric patients with
            metachromatic leukodystrophy in South China: functional
            characterization of five novel ARSA variants
  JOURNAL   Metab Brain Dis 39 (5), 753-762 (2024)
   PUBMED   38775997
  REMARK    GeneRIF: Biochemical and molecular analysis of pediatric patients
            with metachromatic leukodystrophy in South China: functional
            characterization of five novel ARSA variants.
REFERENCE   2  (bases 1 to 4294)
  AUTHORS   Mir,Y.R., Agrahari,A.K., Hassan,A., Choudhary,A., Asthana,S.,
            Taneja,A.K., Nawaz,S., Ilyas,M., Scotti,C. and Kuchay,R.A.H.
  TITLE     Identification and structural characterization of a pathogenic ARSA
            missense variant in two consanguineous families from Jammu and
            Kashmir (India) with late infantile metachromatic leukodystrophy
  JOURNAL   Mol Biol Rep 51 (1), 30 (2023)
   PUBMED   38153581
  REMARK    GeneRIF: Identification and structural characterization of a
            pathogenic ARSA missense variant in two consanguineous families
            from Jammu and Kashmir (India) with late infantile metachromatic
            leukodystrophy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4294)
  AUTHORS   Senkevich,K., Beletskaia,M., Dworkind,A., Yu,E., Ahmad,J.,
            Ruskey,J.A., Asayesh,F., Spiegelman,D., Fahn,S., Waters,C.,
            Monchi,O., Dauvilliers,Y., Dupre,N., Greenbaum,L., Hassin-Baer,S.,
            Nagornov,I., Tyurin,A., Miliukhina,I., Timofeeva,A., Emelyanov,A.,
            Trempe,J.F., Zakharova,E., Alcalay,R.N., Pchelina,S. and Gan-Or,Z.
  TITLE     Association of Rare Variants in ARSA with Parkinson's Disease
  JOURNAL   Mov Disord 38 (10), 1806-1812 (2023)
   PUBMED   37381728
  REMARK    GeneRIF: Association of Rare Variants in ARSA with Parkinson's
            Disease.
REFERENCE   4  (bases 1 to 4294)
  AUTHORS   Abtahi,R., Karimzadeh,P., Rezayi,A., Salehpour,S., Akbarzadeh,D.,
            Tonekaboni,S.H., Emameh,R.Z. and Houshmand,M.
  TITLE     Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian
            Patients
  JOURNAL   J Mol Neurosci 72 (3), 555-564 (2022)
   PUBMED   34554397
  REMARK    GeneRIF: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68
            Iranian Patients.
REFERENCE   5  (bases 1 to 4294)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 4294)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 4294)
  AUTHORS   Gomez-Ospina,N.
  TITLE     Arylsulfatase A Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301309
REFERENCE   8  (bases 1 to 4294)
  AUTHORS   Fujii,T., Kobayashi,T., Honke,K., Gasa,S., Ishikawa,M., Shimizu,T.
            and Makita,A.
  TITLE     Proteolytic processing of human lysosomal arylsulfatase A
  JOURNAL   Biochim Biophys Acta 1122 (1), 93-98 (1992)
   PUBMED   1352993
REFERENCE   9  (bases 1 to 4294)
  AUTHORS   Narahara,K., Takahashi,Y., Murakami,M., Tsuji,K., Yokoyama,Y.,
            Murakami,R., Ninomiya,S. and Seino,Y.
  TITLE     Terminal 22q deletion associated with a partial deficiency of
            arylsulphatase A
  JOURNAL   J Med Genet 29 (6), 432-433 (1992)
   PUBMED   1352356
  REMARK    Review article
REFERENCE   10 (bases 1 to 4294)
  AUTHORS   DeLuca,C., Brown,J.A. and Shows,T.B.
  TITLE     Lysosomal arylsulfatase deficiencies in humans: chromosome
            assignments for arylsulfatase A and B
  JOURNAL   Proc Natl Acad Sci U S A 76 (4), 1957-1961 (1979)
   PUBMED   36611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301098.1, AB448736.1,
            U62317.2 and BQ184813.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000487.5.
            
            Summary: The protein encoded by this gene hydrolyzes cerebroside
            sulfate to cerebroside and sulfate. Defects in this gene lead to
            metachromatic leucodystrophy (MLD), a progressive demyelination
            disease which results in a variety of neurological symptoms and
            ultimately death. Alternatively spliced transcript variants have
            been described for this gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and it encodes the longer protein (isoform a). Variants
            1, 2, 3, and 4 encode the same isoform (a).
            
            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##
            Transcript exon combination :: SRR1803614.21861.1, AB448736.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216124.10/ ENSP00000216124.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AK301098.1         19-23
            6-2019              AB448736.1         1-2014
            2020-3862           U62317.2           15427-17269
            3863-4294           BQ184813.1         18-449              c
FEATURES             Location/Qualifiers
     source          1..4294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..4294
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="arylsulfatase A"
                     /db_xref="GeneID:410"
                     /db_xref="HGNC:HGNC:713"
                     /db_xref="MIM:607574"
     exon            1..597
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     CDS             374..1903
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /EC_number="3.1.6.8"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; cerebroside-sulfatase; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="arylsulfatase A isoform a precursor"
                     /protein_id="NP_000478.3"
                     /db_xref="CCDS:CCDS14100.2"
                     /db_xref="GeneID:410"
                     /db_xref="HGNC:HGNC:713"
                     /db_xref="MIM:607574"
                     /translation="MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHP
                     SSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGL
                     PLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
                     LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQD
                     RPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEET
                     LVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELAS
                     SLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVR
                     TGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGA
                     TPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPH
                     A"
     exon            598..838
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            839..1057
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1227
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..1352
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1480
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1583
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..4294
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2020
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="major polyA site"
     regulatory      3593..3598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      3612
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
     regulatory      4271..4276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      4294
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
ORIGIN      
        1 gaggcggaag cgcccgcagc ccggtaccgg ctcctcctgg gctccctcta gcgccttccc
       61 cccggcccga ctccgctggt cagcgccaag tgacttacgc ccccgaccct gagcccggac
      121 cgctaggcga ggaggatcag atctccgctc gagaatctga aggtgccctg gtcctggagg
      181 agttccgtcc cagcccgcgg tctcccggta ctgtcgggcc ccggccctct ggagcttcag
      241 gaggcggccg tcagggtcgg ggagtatttg ggtccggggt ctcagggaag ggcggcgcct
      301 gggtctgcgg tatcggaaag agcctgctgg agccaagtag ccctccctct cttgggacag
      361 acccctcggt cccatgtcca tgggggcacc gcggtccctc ctcctggccc tggctgctgg
      421 cctggccgtt gcccgtccgc ccaacatcgt gctgatcttt gccgacgacc tcggctatgg
      481 ggacctgggc tgctatgggc accccagctc taccactccc aacctggacc agctggcggc
      541 gggagggctg cggttcacag acttctacgt gcctgtgtct ctgtgcacac cctctagggc
      601 cgccctcctg accggccggc tcccggttcg gatgggcatg taccctggcg tcctggtgcc
      661 cagctcccgg gggggcctgc ccctggagga ggtgaccgtg gccgaagtcc tggctgcccg
      721 aggctacctc acaggaatgg ccggcaagtg gcaccttggg gtggggcctg agggggcctt
      781 cctgcccccc catcagggct tccatcgatt tctaggcatc ccgtactccc acgaccaggg
      841 cccctgccag aacctgacct gcttcccgcc ggccactcct tgcgacggtg gctgtgacca
      901 gggcctggtc cccatcccac tgttggccaa cctgtccgtg gaggcgcagc ccccctggct
      961 gcccggacta gaggcccgct acatggcttt cgcccatgac ctcatggccg acgcccagcg
     1021 ccaggatcgc cccttcttcc tgtactatgc ctctcaccac acccactacc ctcagttcag
     1081 tgggcagagc tttgcagagc gttcaggccg cgggccattt ggggactccc tgatggagct
     1141 ggatgcagct gtggggaccc tgatgacagc cataggggac ctggggctgc ttgaagagac
     1201 gctggtcatc ttcactgcag acaatggacc tgagaccatg cgtatgtccc gaggcggctg
     1261 ctccggtctc ttgcggtgtg gaaagggaac gacctacgag ggcggtgtcc gagagcctgc
     1321 cttggccttc tggccaggtc atatcgctcc cggcgtgacc cacgagctgg ccagctccct
     1381 ggacctgctg cctaccctgg cagccctggc tggggcccca ctgcccaatg tcaccttgga
     1441 tggctttgac ctcagccccc tgctgctggg cacaggcaag agccctcggc agtctctctt
     1501 cttctacccg tcctacccag acgaggtccg tggggttttt gctgtgcgga ctggaaagta
     1561 caaggctcac ttcttcaccc agggctctgc ccacagtgat accactgcag accctgcctg
     1621 ccacgcctcc agctctctga ctgctcatga gcccccgctg ctctatgacc tgtccaagga
     1681 ccctggtgag aactacaacc tgctgggggg tgtggccggg gccaccccag aggtgctgca
     1741 agccctgaaa cagcttcagc tgctcaaggc ccagttagac gcagctgtga ccttcggccc
     1801 cagccaggtg gcccggggcg aggaccccgc cctgcagatc tgctgtcatc ctggctgcac
     1861 cccccgccca gcttgctgcc attgcccaga tccccatgcc tgagggcccc tcggctggcc
     1921 tgggcatgtg atggctcctc actgggagcc tgtgggggag gctcaggtgt ctggaggggg
     1981 tttgtgcctg ataacgtaat aacaccagtg gagacttgca gatgtgacaa ttcgtccaat
     2041 cctggggtaa tgctgtgtgc tggtgccggt cccctgtggt acgaatgagg aaactgaggt
     2101 gcagagaggt tcaggacttg tacaagatca cccagccaga aagaggttgg gctgggattt
     2161 gaaccctggt gtcgtggctc tggaagctgc cctggcgcct tggtgatctg cgtgggtcag
     2221 tgcacacagg cacacgtcag cctcaaggac atgggcacat ctgttcacag gagcagcgcc
     2281 acgtgccttt gagtgccagg aacggggtgg gagggtggga gggtgtgagg gccagaagac
     2341 tcagaagatg caaagtgcct gagagagacg ggatattccc ccagaagaag cattcttaga
     2401 gacacaggca ctggacctcc ttggttctta taagaaacct gtctgaagct gggtgatgag
     2461 ttgcacactc caggtggggc taaggggcct ggagcccctg ctggctccta ggaaggcaca
     2521 gcagcaggcc ctgagacggc tcctctgggg cccctccacc ctcccaggcc tctgcatttc
     2581 acctgtgccc acacttctgt ctcctgcctt caccttttga cccactacta acgattctcc
     2641 acccagcaga caaagtgatc tcttaaaaat atctgttggc tgggcacggt ggctcacgcc
     2701 tgtaatccca gcactttagg aagccgaggc gggtggatca cctgaggtcg ggagttcgag
     2761 accagcctga ccaacatgga gaaaccccat ctctactaaa aatacaaaat tagccaggtg
     2821 tagtggtgca tccctgtaat cccagctact tgggagtctg aggctggaga atcacttgaa
     2881 cctgggaggc ggtggttgca gtgagccgag atcgcaccat tgcactccag cctgggcaac
     2941 aagagaaaaa ctctgtctca aaaaacaaaa aatctgttag gctgcacacg gcgattcact
     3001 cctgtattcc cagtgctttg ggaggctgag gtgagaggat gcctgaggcc aggaattcag
     3061 accagcctgg gcaacatagt gagaccccag ctctaaagat ttgtttttgt tttttttttt
     3121 tttttttttt tttttttttt tttttttttg agacggagtc tcgctctgtc gcccaggcta
     3181 gagtgcagtg gtaccatctc cgctcactgc aacctccgcc tcccgggttc cagggattct
     3241 cctgcctcag cctccctagt agctggaact acaggtgtgt gctgccatgc ccagctaatt
     3301 tttttttatt taatagagac aagatttcac catgttggcc aggctggtct caaactcctg
     3361 acctcaggtg atccacccgc ctcagcctcc caaagtgctg ggattacagg tgtgaaccac
     3421 cacacctggc caacaatatt tgttttaatt agccaggcgt ggtagcattt gtcctagcaa
     3481 tttgggaggt tgaggtggga gaatcacttc agcccactag gtcgaggctg tagtgagcta
     3541 taattgtacc actgcactcc agcctcgggg acagagtgag accctgtctg caaataaaca
     3601 aataaaacat caggctgggc ttgagcatct attcctgctc aaaatttcgc aggcttctca
     3661 gaagaaaatc caaacccctt acagtgaccc agtttgccct tgaggcctcc acccacaccc
     3721 ccttcccccc agtcttaggg ggtggcctgg ctgttccctt caacggcaac gctctgcctc
     3781 cattgttggc ctcctctgca gggagggact gtctgagcac ctgcccgtgt ctgtgcagca
     3841 tggcacactg acgtcaggcc cacgtgcatg cccaggtggc cagtcacacg ccaggtgctc
     3901 cctcagtgtt ggccaagtga gaggagcaca ccttccgggc gttcagacac ctccccgtgg
     3961 cagacaccgt tcgttgctac caaacagcca cctccttcct aatgggctcc catttttcag
     4021 tgctgggcaa aggtcccttg atcttggagt tgcagcctct ttctctccaa ggagggcggt
     4081 gaccagcctg agccagtcaa tccagtgatt ggttcaggag tagcctgtga ccaggagtcc
     4141 tggtagtgaa cgactggggc agccctgggg gtgaggacct tgcgcagccg tcacaggccc
     4201 tgattggaca ctgggcagct gctaacccag tgtctccagc tgcctacctg gagagctcca
     4261 agcgtaagaa aataaaccct gcctgttgaa gcca
//
