LOCUS       NM_001127639            2159 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus glucosylceramidase beta 1 (Gba1), mRNA.
ACCESSION   NM_001127639 XM_001071921 XM_001071959
VERSION     NM_001127639.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2159)
  AUTHORS   Jian,J., Tian,Q.Y., Hettinghouse,A., Zhao,S., Liu,H., Wei,J.,
            Grunig,G., Zhang,W., Setchell,K.D.R., Sun,Y., Overkleeft,H.S.,
            Chan,G.L. and Liu,C.J.
  TITLE     Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is
            Therapeutic Against Gaucher Disease
  JOURNAL   EBioMedicine 13, 212-224 (2016)
   PUBMED   27789271
REFERENCE   2  (bases 1 to 2159)
  AUTHORS   Beilina,A. and Cookson,M.R.
  TITLE     Genes associated with Parkinson's disease: regulation of autophagy
            and beyond
  JOURNAL   J Neurochem 139 Suppl 1 (Suppl 1), 91-107 (2016)
   PUBMED   26223426
  REMARK    Review article
REFERENCE   3  (bases 1 to 2159)
  AUTHORS   Magalhaes,J., Gegg,M.E., Migdalska-Richards,A., Doherty,M.K.,
            Whitfield,P.D. and Schapira,A.H.
  TITLE     Autophagic lysosome reformation dysfunction in glucocerebrosidase
            deficient cells: relevance to Parkinson disease
  JOURNAL   Hum Mol Genet 25 (16), 3432-3445 (2016)
   PUBMED   27378698
REFERENCE   4  (bases 1 to 2159)
  AUTHORS   Marques,A.R., Mirzaian,M., Akiyama,H., Wisse,P., Ferraz,M.J.,
            Gaspar,P., Ghauharali-van der Vlugt,K., Meijer,R., Giraldo,P.,
            Alfonso,P., Irun,P., Dahl,M., Karlsson,S., Pavlova,E.V., Cox,T.M.,
            Scheij,S., Verhoek,M., Ottenhoff,R., van Roomen,C.P., Pannu,N.S.,
            van Eijk,M., Dekker,N., Boot,R.G., Overkleeft,H.S., Blommaart,E.,
            Hirabayashi,Y. and Aerts,J.M.
  TITLE     Glucosylated cholesterol in mammalian cells and tissues: formation
            and degradation by multiple cellular beta-glucosidases
  JOURNAL   J Lipid Res 57 (3), 451-463 (2016)
   PUBMED   26724485
REFERENCE   5  (bases 1 to 2159)
  AUTHORS   Rocha,E.M., Smith,G.A., Park,E., Cao,H., Brown,E., Hayes,M.A.,
            Beagan,J., McLean,J.R., Izen,S.C., Perez-Torres,E., Hallett,P.J.
            and Isacson,O.
  TITLE     Glucocerebrosidase gene therapy prevents alpha-synucleinopathy of
            midbrain dopamine neurons
  JOURNAL   Neurobiol Dis 82, 495-503 (2015)
   PUBMED   26392287
REFERENCE   6  (bases 1 to 2159)
  AUTHORS   Vaccaro,A.M., Tatti,M., Ciaffoni,F., Salvioli,R., Barca,A. and
            Scerch,C.
  TITLE     Effect of saposins A and C on the enzymatic hydrolysis of liposomal
            glucosylceramide
  JOURNAL   J Biol Chem 272 (27), 16862-16867 (1997)
   PUBMED   9201993
REFERENCE   7  (bases 1 to 2159)
  AUTHORS   Hanley,K., Jiang,Y., Holleran,W.M., Elias,P.M., Williams,M.L. and
            Feingold,K.R.
  TITLE     Glucosylceramide metabolism is regulated during normal and
            hormonally stimulated epidermal barrier development in the rat
  JOURNAL   J Lipid Res 38 (3), 576-584 (1997)
   PUBMED   9101438
REFERENCE   8  (bases 1 to 2159)
  AUTHORS   Schulze,E., Bohme,H.J. and Hofmann,E.
  TITLE     Developmental changes of glycosidase activities in rat renal cortex
  JOURNAL   Biomed Biochim Acta 45 (5), 601-609 (1986)
   PUBMED   3019325
REFERENCE   9  (bases 1 to 2159)
  AUTHORS   Basu,A. and Glew,R.H.
  TITLE     Characterization of the activation of rat liver beta-glucosidase by
            sialosylgangliotetraosylceramide
  JOURNAL   J Biol Chem 260 (24), 13067-13073 (1985)
   PUBMED   3932339
REFERENCE   10 (bases 1 to 2159)
  AUTHORS   Fabbro,D., Desnick,R.J. and Gatt,S.
  TITLE     Lysosomal beta-glucosidase of rat liver
  JOURNAL   Enzyme 31 (2), 122-127 (1984)
   PUBMED   6426948
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC166732.1.
            
            On or before May 25, 2008 this sequence version replaced
            XM_001071921.1, XM_001071959.1.
            
            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 :: BC166732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132263
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2159
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="2"
                     /map="2q34"
     gene            1..2159
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /note="glucosylceramidase beta 1"
                     /db_xref="GeneID:684536"
                     /db_xref="RGD:1589149"
     exon            1..129
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            130..199
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1692
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /EC_number="3.2.1.45"
                     /note="glucocerebrosidase; glucosidase, beta, acid;
                     lysosomal acid glucosylceramidase"
                     /codon_start=1
                     /product="lysosomal acid glucosylceramidase precursor"
                     /protein_id="NP_001121111.1"
                     /db_xref="GeneID:684536"
                     /db_xref="RGD:1589149"
                     /translation="MAARFIGLFLFQAISWAYGAQPCIPKSFGYSSVVCVCNATYCDS
                     LDPLTLPALGTFSRYESTRSGRRMELSTGSIQANRTGTGLLLTLQPEEKFQKVKGFGG
                     AMTDATALNILALSPPAQKLLLKSYFSSEGIEYNIIRVPMASCDFSIRIYTYADTPND
                     FQLSNFSLPEEDTKLKIPLIHRALKMSPRPISLFASPWTSPTWLKTNGAVNGKGSLKG
                     HPGDIYHEAWANYFVKFLDAYATHNIKFWAVTAENEPSAGLFTGYPFQCLGFTAEHQR
                     DFISHDLGPALANSSHDVKLLILDDQRLLLPRWAQVVLSDPEAAKYVHGIAVHWYMDF
                     LAPAKATLGETHRLFPNMMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYH
                     VTGWTDWNLALNPEGGPNWVRNFVDSPIIVDIPKDTFYKQPMFYHLGHFSKFIPEGSQ
                     RVGLVASEKTDLETVALIRPDGSAVVVVLNRSSKDVPLTISDPALGFMETISPGYSIH
                     TYLWRRQ"
     exon            200..391
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            392..538
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            539..672
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            673..845
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            846..1080
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1305
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1469
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1586
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..2145
                     /gene="Gba1"
                     /gene_synonym="Gba"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aatagatatg gtatctgtca atatacttgt tttatttggt agatcttcta actctccaag
       61 actctgaaac tgctacaatc ttcttatcca ctgatcctga ggagctcaag ttctcaagat
      121 cttccagaga agcgtcctgg tgtcatggct gccaggttca taggactctt cctatttcag
      181 gccatatctt gggcatatgg tgcccaaccc tgcatcccca aaagttttgg ctacagctca
      241 gtggtctgtg tctgcaatgc aacgtactgt gactctcttg accccctgac cttaccggct
      301 ctgggtacct tcagccgtta tgagagtact cgaagcggac gtcggatgga gctgagtacc
      361 gggtccatcc aggccaaccg cactggcaca gggctcctac taaccttgca gccagaagag
      421 aagttccaga aagtgaaagg atttggaggt gccatgacag atgccactgc gctcaacatc
      481 cttgccttgt cccccccggc tcagaaactg ctactcaagt cctacttctc tagcgaaggc
      541 attgagtata acatcatccg ggtacccatg gccagttgtg acttctccat ccgcatctac
      601 acctatgctg acacccctaa tgacttccag ttatccaact tcagcctccc ggaggaagac
      661 accaagctca agatacccct gattcaccga gccctgaaga tgtccccacg ccccatttca
      721 ctctttgcca gtccctggac atcacccact tggctcaaga ccaatggagc agtgaatggg
      781 aaagggtcac tcaagggtca cccaggggat atctatcacg aggcctgggc caattacttt
      841 gtcaagtttc tggatgctta tgctacacac aacatcaaat tctgggcagt gacagcggag
      901 aatgaaccct ctgcagggct cttcactggg taccccttcc aatgcctggg cttcactgct
      961 gaacatcaga gagactttat ttcccatgat ctagggccag cccttgccaa cagttctcat
     1021 gatgtgaagc tactcatact ggatgatcag cggctgctgc taccccgctg ggcacaggtg
     1081 gtgctctctg acccagaggc agccaagtac gttcatggca tcgctgtcca ctggtatatg
     1141 gatttcctgg ctccagccaa agctacttta ggagagacac accgcttgtt ccccaacatg
     1201 atgctctttg cttcagaggc ctgcgtgggc tccaagttct gggagcagag tgttcggtta
     1261 ggctcctggg atcgagggat gcagtacagt cacagcatca ttacgaacct cctttaccac
     1321 gtaactggat ggactgactg gaaccttgcc ctgaatcctg aaggagggcc caactgggtc
     1381 cgcaacttcg ttgatagccc catcattgtc gacatcccca aagacacatt ttacaagcag
     1441 cccatgttct accatcttgg ccacttcagc aagttcatcc ctgagggatc tcagcgagtg
     1501 ggcttggtgg ccagtgagaa gaccgacttg gaaacagtgg cactgatacg ccctgatggc
     1561 tctgcagttg tggtcgtgtt aaaccgatcg tctaaggatg tccctcttac catcagtgat
     1621 cctgccctgg gcttcatgga gaccatctca cctggctact ccattcacac ttacctatgg
     1681 cgtcgccagt gagggaggag accccgaagc aggcacctgg gcttagcacg gacatggaag
     1741 ggaaagttag ctctgtgact aaagaaggca tggcagggcc tgggtgacct gacagtgaca
     1801 caggggcagg ggcgagggtt tgggtgtctt attcgtcttt ccagtacgtg ctgtgcatgg
     1861 gtgggaggcc ctagagtccc tccatttccc acggttgtaa agtgtgtgcc gtgtactagt
     1921 tgcctgtgga ggctgagcca ggtccagggt gagttcatca tctatgaagc acaagatggg
     1981 gatgcctagg gaagatggac ctgtgcagag gagcgaggta agtcagtcta agggccgaag
     2041 cagctttaca acccgagtgc cagagggtag gcctgcacct ccacattctc attgtagcat
     2101 ctaagaatgg cagcagcccc ataaagaaga aaatatttga tcccaaaaaa aaaaaaaaa
//
