LOCUS       NM_000181               2199 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glucuronidase beta (GUSB), transcript variant 1, mRNA.
ACCESSION   NM_000181
VERSION     NM_000181.4
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 2199)
  AUTHORS   Yang,Y., Wang,Y., Wang,C., Wu,S. and Yao,D.
  TITLE     Macrophages and derived-TNF-alpha promote
            lipopolysaccharide-induced upregulation of endogenous
            beta-glucuronidase in the epithelial cells of the bile duct: A
            possible facilitator of hepatolithiasis formation
  JOURNAL   Clin Res Hepatol Gastroenterol 47 (1), 102062 (2023)
   PUBMED   36473630
  REMARK    GeneRIF: Macrophages and derived-TNF-alpha promote
            lipopolysaccharide-induced upregulation of endogenous
            beta-glucuronidase in the epithelial cells of the bile duct: A
            possible facilitator of hepatolithiasis formation.
REFERENCE   2  (bases 1 to 2199)
  AUTHORS   Kong,X., Zheng,Z., Song,G., Zhang,Z., Liu,H., Kang,J., Sun,G.,
            Sun,G., Huang,T., Li,X., Rong,D., Wang,K., Tang,W. and Xia,Y.
  TITLE     Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1
            Therapy in Hepatocellular Carcinoma
  JOURNAL   Front Immunol 13, 876048 (2022)
   PUBMED   35812439
  REMARK    GeneRIF: Over-Expression of GUSB Leads to Primary Resistance of
            Anti-PD1 Therapy in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2199)
  AUTHORS   Chojnowska,S., Ptaszynska-Sarosiek,I., Kepka,A., Szajda,S.D.,
            Waszkiewicz,N. and Zwierz,K.
  TITLE     Optimization of the method for alpha-l-fucosidase,
            beta-d-galactosidase and beta-d-glucuronidase determination in
            serum from hemolyzed blood
  JOURNAL   Adv Med Sci 63 (2), 306-311 (2018)
   PUBMED   29885630
  REMARK    GeneRIF: the beta-d-galactosidase, beta-d-glucuronidase and
            alpha-l-fucosidase activities in serums from hemolyzed blood, were
            determined.
REFERENCE   4  (bases 1 to 2199)
  AUTHORS   Fratz-Berilla,E.J., Ketcham,S.A., Parhiz,H., Ashraf,M. and
            Madhavarao,C.N.
  TITLE     An improved purification method for the lysosomal storage disease
            protein beta-glucuronidase produced in CHO cells
  JOURNAL   Protein Expr Purif 140, 28-35 (2017)
   PUBMED   28734840
  REMARK    GeneRIF: We produced GUS from a CHO cell line grown in suspension
            in a 15 L perfused bioreactor and developed a three step
            purification procedure that yields approximately 99% pure enzyme
            with a recovery of more than 40%.
REFERENCE   5  (bases 1 to 2199)
  AUTHORS   Tomatsu,S., Montano,A.M., Dung,V.C., Grubb,J.H. and Sly,W.S.
  TITLE     Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis
            VII (Sly Syndrome)
  JOURNAL   Hum Mutat 30 (4), 511-519 (2009)
   PUBMED   19224584
  REMARK    GeneRIF: Study summarized information on the 49 unique,
            disease-causing mutations determined so far in the GUS gene.
            Review article
REFERENCE   6  (bases 1 to 2199)
  AUTHORS   Sun,A. and Wang,R.
  TITLE     Mucopolysaccharidosis Type VII
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38190471
REFERENCE   7  (bases 1 to 2199)
  AUTHORS   Wolfe,J.H., Sands,M.S., Barker,J.E., Gwynn,B., Rowe,L.B.,
            Vogler,C.A. and Birkenmeier,E.H.
  TITLE     Reversal of pathology in murine mucopolysaccharidosis type VII by
            somatic cell gene transfer
  JOURNAL   Nature 360 (6406), 749-753 (1992)
   PUBMED   1465145
REFERENCE   8  (bases 1 to 2199)
  AUTHORS   Tanaka,J., Gasa,S., Sakurada,K., Miyazaki,T., Kasai,M. and
            Makita,A.
  TITLE     Characterization of the subunits and sugar moiety of human
            placental and leukemic beta-glucuronidase
  JOURNAL   Biol Chem Hoppe Seyler 373 (1), 57-62 (1992)
   PUBMED   1311180
REFERENCE   9  (bases 1 to 2199)
  AUTHORS   Shipley,J.M., Miller,R.D., Wu,B.M., Grubb,J.H., Christensen,S.G.,
            Kyle,J.W. and Sly,W.S.
  TITLE     Analysis of the 5' flanking region of the human beta-glucuronidase
            gene
  JOURNAL   Genomics 10 (4), 1009-1018 (1991)
   PUBMED   1916806
REFERENCE   10 (bases 1 to 2199)
  AUTHORS   Bell,C.E. Jr., Sly,W.S. and Brot,F.E.
  TITLE     Human beta-glucuronidase deficiency mucopolysaccharidosis:
            identification of cross-reactive antigen in cultured fibroblasts of
            deficient patients by enzyme immunoassay
  JOURNAL   J Clin Invest 59 (1), 97-105 (1977)
   PUBMED   401508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC346632.1, BC014142.2 and
            BM719712.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000181.3.
            
            Summary: This gene encodes a hydrolase that degrades
            glycosaminoglycans, including heparan sulfate, dermatan sulfate,
            and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that
            is localized to the lysosome. Mutations in this gene result in
            mucopolysaccharidosis type VII. Alternative splicing results in
            multiple transcript variants. There are many pseudogenes of this
            locus in the human genome.[provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AK223406.1, M15182.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304895.9/ ENSP00000302728.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                DC346632.1         102-130
            30-2192             BC014142.2         1-2163
            2193-2199           BM719712.1         547-553
FEATURES             Location/Qualifiers
     source          1..2199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..2199
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="glucuronidase beta"
                     /db_xref="GeneID:2990"
                     /db_xref="HGNC:HGNC:4696"
                     /db_xref="MIM:611499"
     exon            1..240
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1986
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /EC_number="3.2.1.31"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; beta-glucuronidase; beta-D-glucuronidase;
                     beta-G1"
                     /codon_start=1
                     /product="beta-glucuronidase isoform 1 precursor"
                     /protein_id="NP_000172.2"
                     /db_xref="CCDS:CCDS5530.1"
                     /db_xref="GeneID:2990"
                     /db_xref="HGNC:HGNC:4696"
                     /db_xref="MIM:611499"
                     /translation="MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGL
                     WSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYE
                     REVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVG
                     PLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSV
                     LLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGT
                     QGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKS
                     QFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEV
                     MQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVAN
                     EPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWY
                     HDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLL
                     EQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRE
                     RYWKIANETRYPHSVAKSQCLENSLFT"
     exon            241..426
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            427..611
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            612..754
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            755..942
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1095
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1274
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1421
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1506
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1683
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1819
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     exon            1820..2199
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2166..2171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="hexamer: AATAAA"
     polyA_site      2199
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="major polyA site"
ORIGIN      
        1 agacggtggc cgagcggggg accgggaagc atggcccggg ggtcggcggt tgcctgggcg
       61 gcgctcgggc cgttgttgtg gggctgcgcg ctggggctgc agggcgggat gctgtacccc
      121 caggagagcc cgtcgcggga gtgcaaggag ctggacggcc tctggagctt ccgcgccgac
      181 ttctctgaca accgacgccg gggcttcgag gagcagtggt accggcggcc gctgtgggag
      241 tcaggcccca ccgtggacat gccagttccc tccagcttca atgacatcag ccaggactgg
      301 cgtctgcggc attttgtcgg ctgggtgtgg tacgaacggg aggtgatcct gccggagcga
      361 tggacccagg acctgcgcac aagagtggtg ctgaggattg gcagtgccca ttcctatgcc
      421 atcgtgtggg tgaatggggt cgacacgcta gagcatgagg ggggctacct ccccttcgag
      481 gccgacatca gcaacctggt ccaggtgggg cccctgccct cccggctccg aatcactatc
      541 gccatcaaca acacactcac ccccaccacc ctgccaccag ggaccatcca atacctgact
      601 gacacctcca agtatcccaa gggttacttt gtccagaaca catattttga ctttttcaac
      661 tacgctggac tgcagcggtc tgtacttctg tacacgacac ccaccaccta catcgatgac
      721 atcaccgtca ccaccagcgt ggagcaagac agtgggctgg tgaattacca gatctctgtc
      781 aagggcagta acctgttcaa gttggaagtg cgtcttttgg atgcagaaaa caaagtcgtg
      841 gcgaatggga ctgggaccca gggccaactt aaggtgccag gtgtcagcct ctggtggccg
      901 tacctgatgc acgaacgccc tgcctatctg tattcattgg aggtgcagct gactgcacag
      961 acgtcactgg ggcctgtgtc tgacttctac acactccctg tggggatccg cactgtggct
     1021 gtcaccaaga gccagttcct catcaatggg aaacctttct atttccacgg tgtcaacaag
     1081 catgaggatg cggacatccg agggaagggc ttcgactggc cgctgctggt gaaggacttc
     1141 aacctgcttc gctggcttgg tgccaacgct ttccgtacca gccactaccc ctatgcagag
     1201 gaagtgatgc agatgtgtga ccgctatggg attgtggtca tcgatgagtg tcccggcgtg
     1261 ggcctggcgc tgccgcagtt cttcaacaac gtttctctgc atcaccacat gcaggtgatg
     1321 gaagaagtgg tgcgtaggga caagaaccac cccgcggtcg tgatgtggtc tgtggccaac
     1381 gagcctgcgt cccacctaga atctgctggc tactacttga agatggtgat cgctcacacc
     1441 aaatccttgg acccctcccg gcctgtgacc tttgtgagca actctaacta tgcagcagac
     1501 aagggggctc cgtatgtgga tgtgatctgt ttgaacagct actactcttg gtatcacgac
     1561 tacgggcacc tggagttgat tcagctgcag ctggccaccc agtttgagaa ctggtataag
     1621 aagtatcaga agcccattat tcagagcgag tatggagcag aaacgattgc agggtttcac
     1681 caggatccac ctctgatgtt cactgaagag taccagaaaa gtctgctaga gcagtaccat
     1741 ctgggtctgg atcaaaaacg cagaaaatac gtggttggag agctcatttg gaattttgcc
     1801 gatttcatga ctgaacagtc accgacgaga gtgctgggga ataaaaaggg gatcttcact
     1861 cggcagagac aaccaaaaag tgcagcgttc cttttgcgag agagatactg gaagattgcc
     1921 aatgaaacca ggtatcccca ctcagtagcc aagtcacaat gtttggaaaa cagcctgttt
     1981 acttgagcaa gactgatacc acctgcgtgt cccttcctcc ccgagtcagg gcgacttcca
     2041 cagcagcaga acaagtgcct cctggactgt tcacggcaga ccagaacgtt tctggcctgg
     2101 gttttgtggt catctattct agcagggaac actaaaggtg gaaataaaag attttctatt
     2161 atggaaataa agagttggca tgaaagtggc tactgaaaa
//
