LOCUS       NP_001012301             569 aa            linear   PRI 06-JUN-2024
DEFINITION  arylsulfatase I precursor [Homo sapiens].
ACCESSION   NP_001012301 XP_291139
VERSION     NP_001012301.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 569)
  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  (residues 1 to 569)
  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  (residues 1 to 569)
  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  (residues 1 to 569)
  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 Feb 16, 2005 this sequence version replaced XP_291139.3.
            
            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##
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     Protein         1..569
                     /product="arylsulfatase I precursor"
                     /EC_number="3.1.6.-"
                     /note="arylsulfatase I"
                     /calculated_mol_wt=61417
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2632
     mat_peptide     24..569
                     /product="Arylsulfatase I. /id=PRO_0000042216"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYB1.1)"
                     /calculated_mol_wt=61417
     Region          48..478
                     /region_name="4-S"
                     /note="N-acetylgalactosamine 4-sulfatase, also called
                     arylsulftase B; cd16029"
                     /db_xref="CDD:293753"
     Site            order(55..56,93,147,149,239,297..298)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293753"
     Site            order(55..56,93,147,149,239,298)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293753"
     Site            276
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB1.1)"
     Site            288
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB1.1)"
     Site            466
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB1.1)"
     Site            496
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB1.1)"
     Region          510..539
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYB1.1)"
     CDS             1..569
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /coded_by="NM_001012301.4:533..2242"
                     /db_xref="CCDS:CCDS34275.1"
                     /db_xref="GeneID:340075"
                     /db_xref="HGNC:HGNC:32521"
                     /db_xref="MIM:610009"
ORIGIN      
        1 mhtltgfslv sllsfgylsw dwakpsfvad gpgeageqps aappqpphii filtddqgyh
       61 dvgyhgsdie tptldrlaak gvklenyyiq pictpsrsql ltgryqihtg lqhsiirpqq
      121 pnclpldqvt lpqklqeagy sthmvgkwhl gfyrkeclpt rrgfdtflgs ltgnvdyyty
      181 dncdgpgvcg fdlhegenva wglsgqystm lyaqrashil ashspqrplf lyvafqavht
      241 plqspreyly ryrtmgnvar rkyaamvtcm deavrnitwa lkrygfynns viifssdngg
      301 qtfsggsnwp lrgrkgtywe ggvrglgfvh spllkrkqrt sralmhitdw yptlvglagg
      361 ttsaadgldg ydvwpaiseg rasprteilh nidplynhaq hgsleggfgi wntavqaair
      421 vgewklltgd pgygdwippq tlatfpgsww nlermasvrq avwlfnisad pyeredlagq
      481 rpdvvrtlla rlaeynrtai pvrypaenpr ahpdfnggaw gpwasdeeee eeegrarsfs
      541 rgrrkkkcki cklrsffrkl ntrlmsqri
//
