LOCUS       NP_000037                533 aa            linear   PRI 15-JUL-2024
DEFINITION  arylsulfatase B isoform 1 precursor [Homo sapiens].
ACCESSION   NP_000037
VERSION     NP_000037.2
DBSOURCE    REFSEQ: accession NM_000046.5
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 533)
  AUTHORS   Bhattacharyya,S., O-Sullivan,I. and Tobacman,J.K.
  TITLE     N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1
            Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism
  JOURNAL   Int J Mol Sci 25 (11), 5851 (2024)
   PUBMED   38892038
  REMARK    GeneRIF: N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B)
            Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated
            Epigenetic Mechanism.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 533)
  AUTHORS   Tobacman,J.K. and Bhattacharyya,S.
  TITLE     Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase
            (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases
  JOURNAL   Int J Mol Sci 23 (21), 13146 (2022)
   PUBMED   36361933
  REMARK    GeneRIF: Profound Impact of Decline in
            N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular
            Pathophysiology and Human Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 533)
  AUTHORS   D'Avanzo,F., Zanetti,A., De Filippis,C. and Tomanin,R.
  TITLE     Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
  JOURNAL   Int J Mol Sci 22 (24), 13456 (2021)
   PUBMED   34948256
  REMARK    GeneRIF: Mucopolysaccharidosis Type VI, an Updated Overview of the
            Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 533)
  AUTHORS   Marek-Yagel,D., Eliyahu,A., Veber,A., Shalva,N., Philosoph,A.M.,
            Barel,O., Javasky,E., Pode-Shakked,B., Loewenthal,N., Anikster,Y.
            and Staretz-Chacham,O.
  TITLE     Deep intronic variant in the ARSB gene as the genetic cause for
            Maroteaux-Lamy syndrome (MPS VI)
  JOURNAL   Am J Med Genet A 185 (12), 3804-3809 (2021)
   PUBMED   34435740
  REMARK    GeneRIF: Deep intronic variant in the ARSB gene as the genetic
            cause for Maroteaux-Lamy syndrome (MPS VI).
REFERENCE   5  (residues 1 to 533)
  AUTHORS   He,M.F., Yang,J., Dong,M.J., Wang,Y.T. and Liu,H.
  TITLE     Compound heterozygous missense mutations in a Chinese
            mucopolysaccharidosis type VI patient: a case report
  JOURNAL   BMC Ophthalmol 21 (1), 214 (2021)
   PUBMED   33985463
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 533)
  AUTHORS   Kobayashi,T., Honke,K., Jin,T., Gasa,S., Miyazaki,T. and Makita,A.
  TITLE     Components and proteolytic processing sites of arylsulfatase B from
            human placenta
  JOURNAL   Biochim Biophys Acta 1159 (3), 243-247 (1992)
   PUBMED   1390929
REFERENCE   7  (residues 1 to 533)
  AUTHORS   Jin,W.D., Jackson,C.E., Desnick,R.J. and Schuchman,E.H.
  TITLE     Mucopolysaccharidosis type VI: identification of three mutations in
            the arylsulfatase B gene of patients with the severe and mild
            phenotypes provides molecular evidence for genetic heterogeneity
  JOURNAL   Am J Hum Genet 50 (4), 795-800 (1992)
   PUBMED   1550123
REFERENCE   8  (residues 1 to 533)
  AUTHORS   Litjens,T., Morris,C.P., Robertson,E.F., Peters,C., von Figura,K.
            and Hopwood,J.J.
  TITLE     An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results
            in a severe Maroteaux-Lamy phenotype
  JOURNAL   Hum Mutat 1 (5), 397-402 (1992)
   PUBMED   1301949
REFERENCE   9  (residues 1 to 533)
  AUTHORS   Wicker,G., Prill,V., Brooks,D., Gibson,G., Hopwood,J., von
            Figura,K. and Peters,C.
  TITLE     Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate
            clinical phenotype caused by substitution of valine for glycine at
            position 137 of arylsulfatase B
  JOURNAL   J Biol Chem 266 (32), 21386-21391 (1991)
   PUBMED   1718978
REFERENCE   10 (residues 1 to 533)
  AUTHORS   Litjens,T., Morris,C.P., Gibson,G.J., Beckmann,K.R. and
            Hopwood,J.J.
  TITLE     Human N-acetylgalactosamine-4-sulphatase: protein maturation and
            isolation of genomic clones
  JOURNAL   Biochem Int 24 (2), 209-215 (1991)
   PUBMED   1930244
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M32373.1, AC114963.2 and
            AC025755.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 1, 2003 this sequence version replaced NP_000037.1.
            
            Summary: Arylsulfatase B encoded by this gene belongs to the
            sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate
            groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and
            dermatan sulfate. The protein is targeted to the lysozyme.
            Mucopolysaccharidosis type VI is an autosomal recessive lysosomal
            storage disorder resulting from a deficiency of arylsulfatase B.
            Two alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by 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 :: SRR1803617.209764.1,
                                           SRR1803613.195264.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264914.10/ ENSP00000264914.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..533
                     /product="arylsulfatase B isoform 1 precursor"
                     /EC_number="3.1.6.12"
                     /note="N-acetylgalactosamine-4-sulfatase"
                     /calculated_mol_wt=56013
     sig_peptide     1..36
                     /note="Or 38. /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
                     /calculated_mol_wt=3693
     mat_peptide     37..533
                     /product="Arylsulfatase B. /id=PRO_0000033421"
                     /note="propagated from UniProtKB/Swiss-Prot (P15848.1)"
                     /calculated_mol_wt=56013
     Region          45..488
                     /region_name="4-S"
                     /note="N-acetylgalactosamine 4-sulfatase, also called
                     arylsulftase B; cd16029"
                     /db_xref="CDD:293753"
     Site            order(53..54,91,145,147,242,300..301)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293753"
     Site            order(53..54,91,145,147,242,301)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293753"
     Site            188
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     Site            279
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     Site            291
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     Site            366
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     Site            426
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     Site            458
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     CDS             1..533
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /coded_by="NM_000046.5:63..1664"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS4043.1"
                     /db_xref="GeneID:411"
                     /db_xref="HGNC:HGNC:714"
                     /db_xref="MIM:611542"
ORIGIN      
        1 mgprgaaslp rgpgprrlll pvvlplllll llappgsgag asrpphlvfl laddlgwndv
       61 gfhgsrirtp hldalaaggv lldnyytqpl ctpsrsqllt gryqirtglq hqiiwpcqps
      121 cvpldekllp qllkeagytt hmvgkwhlgm yrkeclptrr gfdtyfgyll gsedyysher
      181 ctlidalnvt rcaldfrdge evatgyknmy stniftkrai alitnhppek plflylalqs
      241 vheplqvpee ylkpydfiqd knrhhyagmv slmdeavgnv taalkssglw nntvfifstd
      301 nggqtlaggn nwplrgrkws lweggvrgvg fvaspllkqk gvknrelihi sdwlptlvkl
      361 arghtngtkp ldgfdvwkti segspsprie llhnidpnfv dsspcprnsm apakddsslp
      421 eysafntsvh aairhgnwkl ltgypgcgyw fpppsqynvs eipssdpptk tlwlfdidrd
      481 peerhdlsre yphivtklls rlqfyhkhsv pvyfpaqdpr cdpkatgvwg pwm
//
