LOCUS       NM_000157               2291 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens glucosylceramidase beta 1 (GBA1), transcript variant
            1, mRNA.
ACCESSION   NM_000157
VERSION     NM_000157.4
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 2291)
  AUTHORS   Onal,G., Yalcin-Cakmakli,G., Ozcelik,C.E., Boussaad,I.,
            Seker,U.O.S., Fernandes,H.J.R., Demir,H., Kruger,R., Elibol,B.,
            Dokmeci,S. and Salman,M.M.
  TITLE     Variant-specific effects of GBA1 mutations on dopaminergic neuron
            proteostasis
  JOURNAL   J Neurochem 168 (9), 2543-2560 (2024)
   PUBMED   38641924
  REMARK    GeneRIF: Variant-specific effects of GBA1 mutations on dopaminergic
            neuron proteostasis.
REFERENCE   2  (bases 1 to 2291)
  AUTHORS   Gustavsson,E.K., Sethi,S., Gao,Y., Brenton,J.W., Garcia-Ruiz,S.,
            Zhang,D., Garza,R., Reynolds,R.H., Evans,J.R., Chen,Z.,
            Grant-Peters,M., Macpherson,H., Montgomery,K., Dore,R.,
            Wernick,A.I., Arber,C., Wray,S., Gandhi,S., Esselborn,J.,
            Blauwendraat,C., Douse,C.H., Adami,A., Atacho,D.A.M., Kouli,A.,
            Quaegebeur,A., Barker,R.A., Englund,E., Platt,F., Jakobsson,J.,
            Wood,N.W., Houlden,H., Saini,H., Bento,C.F., Hardy,J. and Ryten,M.
  TITLE     The annotation of GBA1 has been concealed by its protein-coding
            pseudogene GBAP1
  JOURNAL   Sci Adv 10 (26), eadk1296 (2024)
   PUBMED   38924406
  REMARK    GeneRIF: The annotation of GBA1 has been concealed by its
            protein-coding pseudogene GBAP1.
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Moors,T.E., Morella,M.L., Bertran-Cobo,C., Geut,H., Udayar,V.,
            Timmermans-Huisman,E., Ingrassia,A.M.T., Breve,J.J.P.,
            Bol,J.G.J.M., Bonifati,V., Jagasia,R. and van de Berg,W.D.J.
  TITLE     Altered TFEB subcellular localization in nigral neurons of subjects
            with incidental, sporadic and GBA-related Lewy body diseases
  JOURNAL   Acta Neuropathol 147 (1), 67 (2024)
   PUBMED   38581586
  REMARK    GeneRIF: Altered TFEB subcellular localization in nigral neurons of
            subjects with incidental, sporadic and GBA-related Lewy body
            diseases.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2291)
  AUTHORS   Brown,E.G., Goldman,S.M., Coffey,C.S., Siderowf,A., Simuni,T.,
            Meng,C., Brumm,M.C., Caspell-Garcia,C., Marek,K. and Tanner,C.M.
  CONSRTM   Parkinson's Progression Markers Initiative
  TITLE     Occupational Pesticide Exposure in Parkinson's Disease Related to
            GBA and LRRK2 Variants
  JOURNAL   J Parkinsons Dis 14 (4), 737-746 (2024)
   PUBMED   38820021
  REMARK    GeneRIF: Occupational Pesticide Exposure in Parkinson's Disease
            Related to GBA and LRRK2 Variants.
REFERENCE   5  (bases 1 to 2291)
  AUTHORS   Hughes,D.A. and Pastores,G.M.
  TITLE     Gaucher Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301446
REFERENCE   6  (bases 1 to 2291)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
REFERENCE   7  (bases 1 to 2291)
  AUTHORS   Tybulewicz,V.L., Tremblay,M.L., LaMarca,M.E., Willemsen,R.,
            Stubblefield,B.K., Winfield,S., Zablocka,B., Sidransky,E.,
            Martin,B.M., Huang,S.P. et al.
  TITLE     Animal model of Gaucher's disease from targeted disruption of the
            mouse glucocerebrosidase gene
  JOURNAL   Nature 357 (6377), 407-410 (1992)
   PUBMED   1594045
REFERENCE   8  (bases 1 to 2291)
  AUTHORS   Beutler,E., West,C. and Gelbart,T.
  TITLE     Polymorphisms in the human glucocerebrosidase gene
  JOURNAL   Genomics 12 (4), 795-800 (1992)
   PUBMED   1572652
REFERENCE   9  (bases 1 to 2291)
  AUTHORS   Latham,T.E., Theophilus,B.D., Grabowski,G.A. and Smith,F.I.
  TITLE     Heterogeneity of mutations in the acid beta-glucosidase gene of
            Gaucher disease patients
  JOURNAL   DNA Cell Biol 10 (1), 15-21 (1991)
   PUBMED   1899336
REFERENCE   10 (bases 1 to 2291)
  AUTHORS   Sorge,J., Gross,E., West,C. and Beutler,E.
  TITLE     High level transcription of the glucocerebrosidase pseudogene in
            normal subjects and patients with Gaucher disease
  JOURNAL   J Clin Invest 86 (4), 1137-1141 (1990)
   PUBMED   1698821
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC297079.1 and BC003356.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000157.3.
            
            Summary: This gene encodes a lysosomal membrane protein that
            cleaves the beta-glucosidic linkage of glycosylceramide, an
            intermediate in glycolipid metabolism. Mutations in this gene cause
            Gaucher disease, a lysosomal storage disease characterized by an
            accumulation of glucocerebrosides. A related pseudogene is
            approximately 12 kb downstream of this gene on chromosome 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: BC003356.1, M19285.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368373.8/ ENSP00000357357.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DC297079.1         30-61
            33-2291             BC003356.1         1-2259
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2291
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="glucosylceramidase beta 1"
                     /db_xref="GeneID:2629"
                     /db_xref="HGNC:HGNC:4177"
                     /db_xref="MIM:606463"
     exon            1..164
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1748
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /EC_number="3.2.1.45"
                     /EC_number="3.2.1.46"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; D-glucosyl-N-acylsphingosine glucohydrolase;
                     glucosidase, beta, acid; lysosomal glucocerebrosidase;
                     imiglucerase; alglucerase; beta-glucocerebrosidase;
                     beta-GC; acid beta-glucosidase; glucosylceramidase-like
                     protein; SGTase; lysosomal acid GCase;
                     cholesteryl-beta-glucosidase; cholesterol
                     glucosyltransferase; lysosomal acid glucosylceramidase;
                     lysosomal glycosylceramidase; lysosomal
                     galactosylceramidase; lysosomal cholesterol
                     glycosyltransferase; beta-glucosylceramidase 1"
                     /codon_start=1
                     /product="lysosomal acid glucosylceramidase isoform 1
                     precursor"
                     /protein_id="NP_000148.2"
                     /db_xref="CCDS:CCDS1102.1"
                     /db_xref="GeneID:2629"
                     /db_xref="HGNC:HGNC:4177"
                     /db_xref="MIM:606463"
                     /translation="MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCI
                     PKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGT
                     GLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
                     PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPW
                     TSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPS
                     AGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVV
                     LTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVR
                     LGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
                     YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVP
                     LTIKDPAVGFLETISPGYSIHTYLWRRQ"
     exon            165..252
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            253..444
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            445..591
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            592..725
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            726..898
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1136
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1361
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1525
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1642
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..2291
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2291
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="major polyA site"
ORIGIN      
        1 ggaattactt gcagggctaa cctagtgcct atagctaagg caggtacctg catccttgtt
       61 tttgtttagt ggatcctcta tccttcagag actctggaac ccctgtggtc ttctcttcat
      121 ctaatgaccc tgaggggatg gagttttcaa gtccttccag agaggaatgt cccaagcctt
      181 tgagtagggt aagcatcatg gctggcagcc tcacaggatt gcttctactt caggcagtgt
      241 cgtgggcatc aggtgcccgc ccctgcatcc ctaaaagctt cggctacagc tcggtggtgt
      301 gtgtctgcaa tgccacatac tgtgactcct ttgacccccc gacctttcct gcccttggta
      361 ccttcagccg ctatgagagt acacgcagtg ggcgacggat ggagctgagt atggggccca
      421 tccaggctaa tcacacgggc acaggcctgc tactgaccct gcagccagaa cagaagttcc
      481 agaaagtgaa gggatttgga ggggccatga cagatgctgc tgctctcaac atccttgccc
      541 tgtcaccccc tgcccaaaat ttgctactta aatcgtactt ctctgaagaa ggaatcggat
      601 ataacatcat ccgggtaccc atggccagct gtgacttctc catccgcacc tacacctatg
      661 cagacacccc tgatgatttc cagttgcaca acttcagcct cccagaggaa gataccaagc
      721 tcaagatacc cctgattcac cgagccctgc agttggccca gcgtcccgtt tcactccttg
      781 ccagcccctg gacatcaccc acttggctca agaccaatgg agcggtgaat gggaaggggt
      841 cactcaaggg acagcccgga gacatctacc accagacctg ggccagatac tttgtgaagt
      901 tcctggatgc ctatgctgag cacaagttac agttctgggc agtgacagct gaaaatgagc
      961 cttctgctgg gctgttgagt ggatacccct tccagtgcct gggcttcacc cctgaacatc
     1021 agcgagactt cattgcccgt gacctaggtc ctaccctcgc caacagtact caccacaatg
     1081 tccgcctact catgctggat gaccaacgct tgctgctgcc ccactgggca aaggtggtac
     1141 tgacagaccc agaagcagct aaatatgttc atggcattgc tgtacattgg tacctggact
     1201 ttctggctcc agccaaagcc accctagggg agacacaccg cctgttcccc aacaccatgc
     1261 tctttgcctc agaggcctgt gtgggctcca agttctggga gcagagtgtg cggctaggct
     1321 cctgggatcg agggatgcag tacagccaca gcatcatcac gaacctcctg taccatgtgg
     1381 tcggctggac cgactggaac cttgccctga accccgaagg aggacccaat tgggtgcgta
     1441 actttgtcga cagtcccatc attgtagaca tcaccaagga cacgttttac aaacagccca
     1501 tgttctacca ccttggccac ttcagcaagt tcattcctga gggctcccag agagtggggc
     1561 tggttgccag tcagaagaac gacctggacg cagtggcact gatgcatccc gatggctctg
     1621 ctgttgtggt cgtgctaaac cgctcctcta aggatgtgcc tcttaccatc aaggatcctg
     1681 ctgtgggctt cctggagaca atctcacctg gctactccat tcacacctac ctgtggcgtc
     1741 gccagtgatg gagcagatac tcaaggaggc actgggctca gcctgggcat taaagggaca
     1801 gagtcagctc acacgctgtc tgtgactaaa gagggcacag cagggccagt gtgagcttac
     1861 agcgacgtaa gcccaggggc aatggtttgg gtgactcact ttcccctcta ggtggtgcca
     1921 ggggctggag gcccctagaa aaagatcagt aagccccagt gtccccccag cccccatgct
     1981 tatgtgaaca tgcgctgtgt gctgcttgct ttggaaactg ggcctgggtc caggcctagg
     2041 gtgagctcac tgtccgtaca aacacaagat cagggctgag ggtaaggaaa agaagagact
     2101 aggaaagctg ggcccaaaac tggagactgt ttgtctttcc tggagatgca gaactgggcc
     2161 cgtggagcag cagtgtcagc atcagggcgg aagccttaaa gcagcagcgg gtgtgcccag
     2221 gcacccagat gattcctatg gcaccagcca ggaaaaatgg cagctcttaa aggagaaaat
     2281 gtttgagccc a
//
