LOCUS       NM_009752               2396 bp    mRNA    linear   ROD 31-JUL-2024
DEFINITION  Mus musculus galactosidase, beta 1 (Glb1), transcript variant 1,
            mRNA.
ACCESSION   NM_009752
VERSION     NM_009752.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2396)
  AUTHORS   Weesner,J.A., Annunziata,I., van de Vlekkert,D., Robinson,C.G.,
            Campos,Y., Mishra,A., Fremuth,L.E., Gomero,E., Hu,H. and d'Azzo,A.
  TITLE     Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at
            ER-PM junctions and increases synaptic spine formation in a
            GM1-gangliosidosis model
  JOURNAL   Cell Rep 43 (5), 114117 (2024)
   PUBMED   38630590
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   Maduro,A.T., Pinto,A., Ferreira-Gomesb,J., Costa,R., Soares,R. and
            Luis,C.
  TITLE     Increased Galactosidase Beta 1 Expression as a Senescent Key Factor
            in beta-Cells Function Modulation at the Early Steps of Type 2
            Diabetes
  JOURNAL   Exp Clin Endocrinol Diabetes 131 (5), 282-289 (2023)
   PUBMED   37072027
  REMARK    GeneRIF: Increased Galactosidase Beta 1 Expression as a Senescent
            Key Factor in beta-Cells Function Modulation at the Early Steps of
            Type 2 Diabetes.
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Weesner,J.A., Annunziata,I., Yang,T., Acosta,W., Gomero,E., Hu,H.,
            van de Vlekkert,D., Ayala,J., Qiu,X., Fremuth,L.E., Radin,D.N.,
            Cramer,C.L. and d'Azzo,A.
  TITLE     Preclinical Enzyme Replacement Therapy with a Recombinant
            beta-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of
            GM1-Gangliosidosis
  JOURNAL   Cells 11 (16), 2579 (2022)
   PUBMED   36010656
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   de Mera-Rodriguez,J.A., Alvarez-Hernan,G., Ganan,Y.,
            Santos-Almeida,A., Martin-Partido,G., Rodriguez-Leon,J. and
            Francisco-Morcillo,J.
  TITLE     Endogenous pH 6.0 beta-Galactosidase Activity Is Linked to Neuronal
            Differentiation in the Olfactory Epithelium
  JOURNAL   Cells 11 (2), 298 (2022)
   PUBMED   35053414
  REMARK    GeneRIF: Endogenous pH 6.0 beta-Galactosidase Activity Is Linked to
            Neuronal Differentiation in the Olfactory Epithelium.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2396)
  AUTHORS   Nanba,E. and Suzuki,K.
  TITLE     Organization of the mouse acid beta-galactosidase gene
  JOURNAL   Biochem Biophys Res Commun 178 (1), 158-164 (1991)
   PUBMED   1906271
REFERENCE   6  (bases 1 to 2396)
  AUTHORS   Nanba,E. and Suzuki,K.
  TITLE     Molecular cloning of mouse acid beta-galactosidase cDNA: sequence,
            expression of catalytic activity and comparison with the human
            enzyme
  JOURNAL   Biochem Biophys Res Commun 173 (1), 141-148 (1990)
   PUBMED   2124109
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Berger,F.G. and Paigen,K.
  TITLE     Cis-active control of mouse beta-galactosidase biosynthesis by a
            systemic regulatory locus
  JOURNAL   Nature 282 (5736), 314-316 (1979)
   PUBMED   116134
REFERENCE   8  (bases 1 to 2396)
  AUTHORS   Berger,F.G. and Lusis,A.J.
  TITLE     Relationship between genetic variation in thermal stability and
            electrophoretic mobility of mouse beta-galactosidase
  JOURNAL   Biochem Genet 16 (9-10), 1007-1014 (1978)
   PUBMED   105715
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   Dewey,M.J. and Mintz,B.
  TITLE     Genetic control of cell-type-specific levels of mouse
            beta-galactosidase
  JOURNAL   Dev Biol 66 (2), 560-563 (1978)
   PUBMED   100360
REFERENCE   10 (bases 1 to 2396)
  AUTHORS   Berger,F.G. and Paigen,K.
  TITLE     Regulation of the rate of beta-galactosidase synthese by the Bgs
            and Bgt loci in the mouse
  JOURNAL   J Biol Chem 253 (15), 5280-5282 (1978)
   PUBMED   97289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK171593.1, AC156499.2 and
            AK153218.1.
            
            On Dec 7, 2013 this sequence version replaced NM_009752.1.
            
            Summary: This gene encodes a preproprotein that is proteolytically
            cleaved to yield a signal peptide and a proproptein that is
            subsequently processed to generate the active mature peptide. The
            encoded protein is a lysosomal enzyme that catalyzes the hydrolysis
            of terminal beta-D-galactose residues in various substrates like
            lactose, ganglioside GM1 and other glycoproteins. Mutations in the
            human gene are associated with GM1-gangliosidosis and Morquio B
            syndrome. Disruption of the mouse gene mirrors the symptoms of
            human gangliosidosis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the functional protein.
            
            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 :: AK171593.1, BC028875.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2101              AK171593.1         4-2104
            2102-2102           AC156499.2         2379-2379           c
            2103-2393           AK171593.1         2106-2396
            2394-2396           AK153218.1         2376-2378
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 64.4 cM"
     gene            1..2396
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /note="galactosidase, beta 1"
                     /db_xref="GeneID:12091"
                     /db_xref="MGI:MGI:88151"
     exon            1..192
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            193..362
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            363..513
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            514..574
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            575..669
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            670..850
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            851..909
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1031
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1072
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1185
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1260
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1350
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1467
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1599
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1854
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..2396
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2375..2380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2395
                     /gene="Glb1"
                     /gene_synonym="Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt;
                     C130097A14Rik"
                     /note="major polyA site"
ORIGIN      
        1 ggcggggcgg agctgggggc gggtcctggc atagggtcct caacaacccc cggaggtgca
       61 gcggctggcc agagcgccca ctgcctaacg gagagacccc atcgtggcgc gatcatgctc
      121 cgggtccccc tgtgtacgcc gctcccgctc ctggcactgc tgcaactgct gggcgctgcg
      181 cacggcatct ataatgtcac ccagaggaca tttaagctcg actacagccg ggaccgcttc
      241 ctcaaggatg gacagccatt ccgatacatc tcgggaagca ttcattactt ccggataccc
      301 cgcttctact gggaggaccg gctgctgaag atgaagatgg ctgggctgaa tgctatccag
      361 atgtacgtgc cctggaactt ccatgaaccc caaccaggac aatatgagtt ttctggggac
      421 cgtgatgtgg agcatttcat ccagctggct catgagctgg gactcctggt gatcctgagg
      481 cctgggccct acatctgtgc agagtgggac atggggggct tacctgcttg gctactagag
      541 aaacaatcta tcgttctccg gtcttctgac ccagactacc ttgtagctgt ggataaatgg
      601 ctggcagtcc ttctgcccaa gatgaagccc ctgctctacc agaacggagg accgatcata
      661 accgtgcagg ttgagaatga gtacgggtcc tactttgcct gcgattacga ctacctacgc
      721 ttcctggtgc accgcttccg ctaccatctg ggtaatgacg tcattctctt caccaccgac
      781 ggagcaagtg aaaaaatgct gaagtgtggg accctgcagg acctgtacgc cacagtggat
      841 tttggaacag gcaacaatat cacacaagct ttcctggtcc agaggaagtt tgaacctaaa
      901 ggacctttga tcaattctga gttctatact ggctggctag accactgggg taaaccccat
      961 tccacggtga aaactaaaac actggctacc tccctctata acctgcttgc ccgtggggcc
     1021 aacgtgaact tgtacatgtt tataggtggg accaattttg cctattggaa tggtgccaac
     1081 acgccctatg agccacagcc caccagctat gactacgacg ccccactgag cgaggctggg
     1141 gacctcacta agaagtattt tgctcttcga gaagtcattc agatgtttaa agaagtccca
     1201 gaaggcccta tccctccgtc tacacccaaa tttgcatatg gaaaagttgc tctgagaaag
     1261 ttcaagacag tggctgaagc tctgggtatc ctgtgtccca atgggccagt gaaaagcctc
     1321 tatcccctga cattcactca ggtaaaacag tattttgggt atgtgctgta ccgaacaacg
     1381 cttcctcaag attgcagtaa cccgaaaccc attttctctt cacccttcaa tggtgtccgt
     1441 gatcgggctt acgtctctgt ggacggggtc ccccaaggaa tccttgatcg aaacctcatg
     1501 acagctctga acatacgggg gaaggctgga gccacgctgg acatcctggt ggagaacatg
     1561 gggcgtgtga actatggcag attcatcaat gacttcaagg gtttgatttc caacatgact
     1621 atcaactcca ctgtcctcac caactggacg gtcttcccac tgaacactga ggccatggta
     1681 cgcaaccatc tctggggccg ggaggccagt gatgagggtc accttgacgg acggtcgacc
     1741 tccaattctt cggacctcat actccccacc ttttacgtgg gcaacttctc catcccctcg
     1801 ggcatcccag acctgccaca ggacaccttc atccagtttc ctgggtggtc caagggtcaa
     1861 gtatggatca atggctttaa cctcggccga tactggccca caatgggccc acaaaagacc
     1921 ttgttcgtgc caaggaacat cctgaccact tcagccccaa acaacatcac agtgttggag
     1981 ctagagtttg caccctgcag cgaggggacc ccagagctgt gtacagtaga gtttgttgac
     2041 actccggtca tttcctgacc tgacttgacc atcggtggcc attttccaag ccagtctggt
     2101 caagactcat ggctgaacct ctgagactga gccttgggga gcacagctct actctggtta
     2161 cacggatcac ctttgttgtg ctagaatgga agctacattt ctggaatgtg tgtaccctgc
     2221 tggtgacttt gcagccccgc cttgcctgac ctcccaccct agtggccacc gggaaggctg
     2281 aagggagtgg acaccacagg aagacacagg ttggagcaaa acttgaataa tgtcctttat
     2341 cctgatttga aataatcacg tcatctttct gctgaataaa attggtttgc aagttg
//
