LOCUS       NM_001012301            3113 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens arylsulfatase family member I (ARSI), mRNA.
ACCESSION   NM_001012301 XM_291139
VERSION     NM_001012301.4
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 3113)
  AUTHORS   Novarino,G., Fenstermaker,A.G., Zaki,M.S., Hofree,M., Silhavy,J.L.,
            Heiberg,A.D., Abdellateef,M., Rosti,B., Scott,E., Mansour,L.,
            Masri,A., Kayserili,H., Al-Aama,J.Y., Abdel-Salam,G.M.H.,
            Karminejad,A., Kara,M., Kara,B., Bozorgmehri,B., Ben-Omran,T.,
            Mojahedi,F., El Din Mahmoud,I.G., Bouslam,N., Bouhouche,A.,
            Benomar,A., Hanein,S., Raymond,L., Forlani,S., Mascaro,M.,
            Selim,L., Shehata,N., Al-Allawi,N., Bindu,P.S., Azam,M., Gunel,M.,
            Caglayan,A., Bilguvar,K., Tolun,A., Issa,M.Y., Schroth,J.,
            Spencer,E.G., Rosti,R.O., Akizu,N., Vaux,K.K., Johansen,A.,
            Koh,A.A., Megahed,H., Durr,A., Brice,A., Stevanin,G., Gabriel,S.B.,
            Ideker,T. and Gleeson,J.G.
  TITLE     Exome sequencing links corticospinal motor neuron disease to common
            neurodegenerative disorders
  JOURNAL   Science 343 (6170), 506-511 (2014)
   PUBMED   24482476
REFERENCE   2  (bases 1 to 3113)
  AUTHORS   Oshikawa,M., Usami,R. and Kato,S.
  TITLE     Characterization of the arylsulfatase I (ARSI) gene preferentially
            expressed in the human retinal pigment epithelium cell line ARPE-19
  JOURNAL   Mol Vis 15, 482-494 (2009)
   PUBMED   19262745
  REMARK    GeneRIF: No mutation was found in the ARSI gene locus of the
            retinitis pigmentosa patients examined.
REFERENCE   3  (bases 1 to 3113)
  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   4  (bases 1 to 3113)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA759270.1, BC111002.1,
            AC011372.7 and BM670894.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001012301.3.
            
            Summary: This gene encodes a protein that belongs to a large family
            of sulfatases that hydrolyze sulfate esters and sulfamates. Members
            of this family play a role in several cellular processes, including
            hormone synthesis, cell signaling in development and degradation of
            macromolecules. The protein encoded by this gene is thought to be
            secreted, and to function in extracellular space. [provided by
            RefSeq, Jul 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB448735.1, BC111002.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328668.8/ ENSP00000333395.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-325               DA759270.1         58-382
            326-1167            BC111002.1         306-1147
            1168-1168           AC011372.7         79920-79920         c
            1169-3110           BC111002.1         1149-3090
            3111-3113           BM670894.1         22-24               c
FEATURES             Location/Qualifiers
     source          1..3113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..3113
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="arylsulfatase family member I"
                     /db_xref="GeneID:340075"
                     /db_xref="HGNC:HGNC:32521"
                     /db_xref="MIM:610009"
     exon            1..843
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /inference="alignment:Splign:2.1.0"
     CDS             533..2242
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /EC_number="3.1.6.-"
                     /note="arylsulfatase I"
                     /codon_start=1
                     /product="arylsulfatase I precursor"
                     /protein_id="NP_001012301.1"
                     /db_xref="CCDS:CCDS34275.1"
                     /db_xref="GeneID:340075"
                     /db_xref="HGNC:HGNC:32521"
                     /db_xref="MIM:610009"
                     /translation="MHTLTGFSLVSLLSFGYLSWDWAKPSFVADGPGEAGEQPSAAPP
                     QPPHIIFILTDDQGYHDVGYHGSDIETPTLDRLAAKGVKLENYYIQPICTPSRSQLLT
                     GRYQIHTGLQHSIIRPQQPNCLPLDQVTLPQKLQEAGYSTHMVGKWHLGFYRKECLPT
                     RRGFDTFLGSLTGNVDYYTYDNCDGPGVCGFDLHEGENVAWGLSGQYSTMLYAQRASH
                     ILASHSPQRPLFLYVAFQAVHTPLQSPREYLYRYRTMGNVARRKYAAMVTCMDEAVRN
                     ITWALKRYGFYNNSVIIFSSDNGGQTFSGGSNWPLRGRKGTYWEGGVRGLGFVHSPLL
                     KRKQRTSRALMHITDWYPTLVGLAGGTTSAADGLDGYDVWPAISEGRASPRTEILHNI
                     DPLYNHAQHGSLEGGFGIWNTAVQAAIRVGEWKLLTGDPGYGDWIPPQTLATFPGSWW
                     NLERMASVRQAVWLFNISADPYEREDLAGQRPDVVRTLLARLAEYNRTAIPVRYPAEN
                     PRAHPDFNGGAWGPWASDEEEEEEEGRARSFSRGRRKKKCKICKLRSFFRKLNTRLMS
                     QRI"
     exon            844..3113
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="hexamer: ATTAAA"
     polyA_site      3113
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="major polyA site"
ORIGIN      
        1 gaattctctc ccgccgtgtc ccctcgaccc gcccaacttg tgcctccctc cccttcccct
       61 ctggggtcct gcccacctcc ctgcagggag ctgggctgtt ttaaggactc cgggtggggc
      121 gagaggccgg gaaagcagag gagagagaaa ttaggaggcg ggagaaatcc agggcaagaa
      181 ggaagagggg agtcagagga tggtagagag cactttttgg aagctgccac gccgcgtctc
      241 aggctggccg ggctgagctg gggaagaggg agcaaaggcg gcgcagggcc tgcgcttagg
      301 cagcgggagg cagctcggcg cgggcctgac ctccccagag cgccccgctg cggccgagca
      361 gatccggccc agccgtccgg cagccagtcc cggaccagac actggaccgt ccccgggggg
      421 cgctgaactc cctcgcagca tccgagccgg cgggccggtg gtgcgccctg ggcgcgcgag
      481 gtggtgaggc cccaggagcc cggcgcgccg ggacgcgcgg gccggcttgg cgatgcacac
      541 cctcactggc ttctccctgg tcagcctgct cagcttcggc tacctgtcct gggactgggc
      601 caagccgagc ttcgtggccg acgggcccgg ggaggctggc gagcagccct cggccgctcc
      661 gccccagcct ccccacatca tcttcatcct cacggacgac caaggctacc acgacgtggg
      721 ctaccatggt tcagatatcg agacccctac gctggacagg ctggcggcca agggggtcaa
      781 gttggagaat tattacatcc agcccatctg cacgccttcg cggagccagc tcctcactgg
      841 caggtaccag atccacacag gactccagca ttccatcatc cgcccacagc agcccaactg
      901 cctgcccctg gaccaggtga cactgccaca gaagctgcag gaggcaggtt attccaccca
      961 tatggtgggc aagtggcacc tgggcttcta ccggaaggag tgtctgccca cccgtcgggg
     1021 cttcgacacc ttcctgggct cgctcacggg caatgtggac tattacacct atgacaactg
     1081 tgatggccca ggcgtgtgcg gcttcgacct gcacgagggt gagaatgtgg cctgggggct
     1141 cagcggccag tactccacta tgctttatgc ccagcgcgcc agccatatcc tggccagcca
     1201 cagccctcag cgtcccctct tcctctatgt ggccttccag gcagtacaca cacccctgca
     1261 gtcccctcgt gagtacctgt accgctaccg caccatgggc aatgtggccc ggcggaagta
     1321 cgcggccatg gtgacctgca tggatgaggc tgtgcgcaac atcacctggg ccctcaagcg
     1381 ctacggtttc tacaacaaca gtgtcatcat cttctccagt gacaatggtg gccagacttt
     1441 ctcggggggc agcaactggc cgctccgagg acgcaagggc acttattggg aaggtggcgt
     1501 gcggggccta ggctttgtcc acagtcccct gctcaagcga aagcaacgga caagccgggc
     1561 actgatgcac atcactgact ggtacccgac cctggtgggt ctggcaggtg gtaccacctc
     1621 agcagccgat gggctagatg gctacgacgt gtggccggcc atcagcgagg gccgggcctc
     1681 accacgcacg gagatcctgc acaacattga cccactctac aaccatgccc agcatggctc
     1741 cctggagggc ggctttggca tctggaacac cgccgtgcag gctgccatcc gcgtgggtga
     1801 gtggaagctg ctgacaggag accccggcta tggcgattgg atcccaccgc agacactggc
     1861 caccttcccg ggtagctggt ggaacctgga acgaatggcc agtgtccgcc aggccgtgtg
     1921 gctcttcaac atcagtgctg acccttatga acgggaggac ctggctggcc agcggcctga
     1981 tgtggtccgc accctgctgg ctcgcctggc cgaatataac cgcacagcca tcccggtacg
     2041 ctacccagct gagaaccccc gggctcatcc tgactttaat gggggtgctt gggggccctg
     2101 ggccagtgat gaggaagagg aggaagagga agggagggct cgaagcttct cccggggtcg
     2161 tcgcaagaaa aaatgcaaga tttgcaagct tcgatccttt ttccgtaaac tcaacaccag
     2221 gctaatgtcc caacggatct gatggtgggg agggagaaaa ctgtccttta gaggatcttc
     2281 cccactccgg cttggccctg ctgtttctca gggagaagcc tgtcacatct ccatctacag
     2341 ggagttggag ggtgtagagt cccttggttg aacagggtag ggagcctgga taggagtggg
     2401 tgggaataaa ccagactggg atgcctgtgt ctcagtcctg cctcctcacg gacttgctct
     2461 gtgacctcag gtgacccaca tgagctttta gcctcagttt cctcatctgt aaaatgagct
     2521 ctaatgactt tgtgactctt tggtgtggcc ctggagcctg gggccacggt ggagttcctg
     2581 gccggccttg ccacttgaca actcctttaa ggcttccccc ttaacacggg atccctgtgg
     2641 tggtgtttgg gagttgcctg gaggcaactc caagcctggc ccccagctga agcatggcaa
     2701 tctggctgct ctctacaggg acccccaagc gctgtgggtg gagggcaggg gtcggggggg
     2761 ttgaccttct tgggtcttca catggcctag gccagtcctc cggtcagact ggtgtcaggc
     2821 accgtggtgc aaaattcctc ttctggcccc tccagtaccc agagaaactg gctgggccat
     2881 taactgctgc agcaccaagg gtggtagaaa gagctgtgaa gagcccccaa accagtacca
     2941 ggacacctgg gttctcctgt gacctggggc acagttcttg ccctctaggc cttgatttcc
     3001 ccacctgcaa gtggggatgc cagccctggc tctgcctcct tcatgaggct ctggaagact
     3061 ggccaaggtt gtggaggagc ttgtgaactt gattaaagtg tcgtaacatg gaa
//
