LOCUS       NM_001013091            3022 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus glucosylceramidase beta 2 (Gba2), mRNA.
ACCESSION   NM_001013091 XM_001069986 XM_216490
VERSION     NM_001013091.2
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 3022)
  AUTHORS   Malekkou,A., Samarani,M., Drousiotou,A., Votsi,C., Sonnino,S.,
            Pantzaris,M., Chiricozzi,E., Zamba-Papanicolaou,E., Aureli,M.,
            Loberto,N. and Christodoulou,K.
  TITLE     Biochemical Characterization of the GBA2 c.1780G>C Missense
            Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
  JOURNAL   Int J Mol Sci 19 (10), 3099 (2018)
   PUBMED   30308956
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3022)
  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   3  (bases 1 to 3022)
  AUTHORS   Raju,D., Schonauer,S., Hamzeh,H., Flynn,K.C., Bradke,F., Vom
            Dorp,K., Dormann,P., Yildiz,Y., Trotschel,C., Poetsch,A.,
            Breiden,B., Sandhoff,K., Korschen,H.G. and Wachten,D.
  TITLE     Accumulation of glucosylceramide in the absence of the
            beta-glucosidase GBA2 alters cytoskeletal dynamics
  JOURNAL   PLoS Genet 11 (3), e1005063 (2015)
   PUBMED   25803043
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3022)
  AUTHORS   Martin,E., Schule,R., Smets,K., Rastetter,A., Boukhris,A.,
            Loureiro,J.L., Gonzalez,M.A., Mundwiller,E., Deconinck,T.,
            Wessner,M., Jornea,L., Oteyza,A.C., Durr,A., Martin,J.J.,
            Schols,L., Mhiri,C., Lamari,F., Zuchner,S., De Jonghe,P.,
            Kabashi,E., Brice,A. and Stevanin,G.
  TITLE     Loss of function of glucocerebrosidase GBA2 is responsible for
            motor neuron defects in hereditary spastic paraplegia
  JOURNAL   Am J Hum Genet 92 (2), 238-244 (2013)
   PUBMED   23332916
REFERENCE   5  (bases 1 to 3022)
  AUTHORS   Korschen,H.G., Yildiz,Y., Raju,D.N., Schonauer,S., Bonigk,W.,
            Jansen,V., Kremmer,E., Kaupp,U.B. and Wachten,D.
  TITLE     The non-lysosomal beta-glucosidase GBA2 is a non-integral
            membrane-associated protein at the endoplasmic reticulum (ER) and
            Golgi
  JOURNAL   J Biol Chem 288 (5), 3381-3393 (2013)
   PUBMED   23250757
REFERENCE   6  (bases 1 to 3022)
  AUTHORS   Boot,R.G., Verhoek,M., Donker-Koopman,W., Strijland,A., van
            Marle,J., Overkleeft,H.S., Wennekes,T. and Aerts,J.M.
  TITLE     Identification of the non-lysosomal glucosylceramidase as
            beta-glucosidase 2
  JOURNAL   J Biol Chem 282 (2), 1305-1312 (2007)
   PUBMED   17105727
REFERENCE   7  (bases 1 to 3022)
  AUTHORS   Yildiz,Y., Matern,H., Thompson,B., Allegood,J.C., Warren,R.L.,
            Ramirez,D.M., Hammer,R.E., Hamra,F.K., Matern,S. and Russell,D.W.
  TITLE     Mutation of beta-glucosidase 2 causes glycolipid storage disease
            and impaired male fertility
  JOURNAL   J Clin Invest 116 (11), 2985-2994 (2006)
   PUBMED   17080196
REFERENCE   8  (bases 1 to 3022)
  AUTHORS   Matern,H., Boermans,H., Lottspeich,F. and Matern,S.
  TITLE     Molecular cloning and expression of human bile acid
            beta-glucosidase
  JOURNAL   J Biol Chem 276 (41), 37929-37933 (2001)
   PUBMED   11489889
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000005.1.
            
            On or before Jun 1, 2008 this sequence version replaced
            XM_216490.4, XM_001069986.1, NM_001013091.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR22582416.461277.1,
                                           SRR26360186.1231698.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760389,
                                           SAMEA5760434 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-332               JAXUCZ010000005.1  62629483-62629814   c
            333-424             JAXUCZ010000005.1  62625702-62625793   c
            425-540             JAXUCZ010000005.1  62625429-62625544   c
            541-759             JAXUCZ010000005.1  62622550-62622768   c
            760-999             JAXUCZ010000005.1  62622039-62622278   c
            1000-1102           JAXUCZ010000005.1  62621755-62621857   c
            1103-1256           JAXUCZ010000005.1  62621437-62621590   c
            1257-1382           JAXUCZ010000005.1  62621236-62621361   c
            1383-1555           JAXUCZ010000005.1  62620881-62621053   c
            1556-1660           JAXUCZ010000005.1  62620575-62620679   c
            1661-1768           JAXUCZ010000005.1  62620278-62620385   c
            1769-1920           JAXUCZ010000005.1  62620026-62620177   c
            1921-2027           JAXUCZ010000005.1  62619801-62619907   c
            2028-2170           JAXUCZ010000005.1  62619540-62619682   c
            2171-2286           JAXUCZ010000005.1  62619345-62619460   c
            2287-2478           JAXUCZ010000005.1  62619070-62619261   c
            2479-3022           JAXUCZ010000005.1  62618176-62618719   c
FEATURES             Location/Qualifiers
     source          1..3022
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="5"
                     /map="5q22"
     gene            1..3022
                     /gene="Gba2"
                     /note="glucosylceramidase beta 2"
                     /db_xref="GeneID:298399"
                     /db_xref="RGD:1305598"
     CDS             1..2715
                     /gene="Gba2"
                     /EC_number="3.2.1.45"
                     /EC_number="3.2.1.46"
                     /note="NLGase; beta-glucosidase 2; glucosylceramidase 2;
                     beta-glucocerebrosidase 2; glucosidase beta 2; bile acid
                     beta-glucosidase GBA2; cholesteryl-beta-glucosidase GBA2;
                     bile acid glucosyl transferase GBA2; cholesterol
                     glucosyltransferase GBA2; non-lysosomal
                     glycosylceramidase; non-lysosomal galactosylceramidase;
                     non-lysosomal cholesterol glycosyltransferase"
                     /codon_start=1
                     /product="non-lysosomal glucosylceramidase"
                     /protein_id="NP_001013109.2"
                     /db_xref="GeneID:298399"
                     /db_xref="RGD:1305598"
                     /translation="MVTCVPASEQIGCAERDSQIYSEDTGGTEAVRVTDCRSPEDSGP
                     QNEPGYCNSEDSGQLMASYEGKARGYQVPPFGWRICLAHEFAEKRKPFQANNVSLSNL
                     VKHFGMGLRYLKWWYRKTQVEKKTPFIDMFNSVPLRQIYGCPLGGIGGGTITRGWRGQ
                     FCRWQLNPGMYQHQTVIADQFIVCLRRDGRTVYQQVLSLELPSVLRSWNWGLCGYFAF
                     YHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDETLDV
                     SIMFSMRNGLGGEDDAAGGLWNEPFRLEQDGTTVQGLLLHHPTPPNPYTMAVAARHTA
                     DTTVTYTTAFDPDSTGQQVWQDLLQDGQLDSPAGQSTPTQRGEGVAGAVCASSKLLPR
                     GRCCLEFSLAWDMPRIMFGAKGQVHYRRYTRFFGSDGDVAPALSHYALCQYAGWENSI
                     SAWQNPVLDDRSLPAWYKSALFNELYFLADGGTVWLEVPEDSLPEELGGSMYQLRPIL
                     QDYGRFGYLEGQEYRMYNTYDVHFYASFALVMLWPKLELSLQYDMALATFKEDLTRRR
                     YLMSGVVAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYY
                     LTGDQGFLKDMWPVCLAVMESEMKFDKDQDGLIENGGYADQTYDGWVTTGPSAYCGGL
                     WLAAVAVMVQMAVLCGAQDVQDKFSSILCRGREAYERLLWNGRYYNYDSSSQPQSRSV
                     MSDQCAGQWFLRACGLGEGDTEVFPTLHVVRALKTIFELNVQAFAGGAMGAVNGMQPH
                     GVPDRSSVQSDEVWVGVVYGLAATMIQEGLTWEGFRTAEGCYRTVWERLGLAFQTPEA
                     YCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKNSSRPAVTQGTAPSTA"
     exon            1..332
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            333..424
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            425..540
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            541..759
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            760..999
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1102
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1256
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1382
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1555
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1556..1660
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1768
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1920
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2027
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2170
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2286
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            2287..2478
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
     exon            2479..3022
                     /gene="Gba2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggtaacct gcgtacctgc ctccgagcag atcggctgtg cggaaagaga ttcacaaatt
       61 tatagtgaag atactggagg cactgaggct gtgcgggtta cagactgccg gagcccggag
      121 gacagtggac cccagaatga gccaggctac tgcaattcag aggactctgg gcagctgatg
      181 gcctcctacg agggtaaagc taggggctac caggtgcctc cttttggctg gcggatttgc
      241 ttggctcacg agtttgcaga gaagaggaaa ccttttcagg ctaacaacgt ctctctcagt
      301 aatttggtaa agcatttcgg tatgggcttg aggtacttga agtggtggta ccggaagacg
      361 caggtggaaa agaagacccc tttcatcgac atgttcaatt ctgtacccct gagacagatc
      421 tacggttgcc ccttgggtgg cattggagga ggcaccatca cccggggctg gagaggccag
      481 ttctgtcgtt ggcagcttaa tcctggaatg taccagcacc agacagtcat tgcagaccaa
      541 tttatagtat gcttgcgtcg agatgggcgg actgtgtatc agcaagtcct gtccttggag
      601 cttccgagtg tcctgcgcag ctggaactgg ggcctgtgtg gttattttgc tttctaccac
      661 gccctctatc cccgagcctg gacagtctat cagcttcctg gccagaatgt caccctcacc
      721 tgtcgccaga tcacacctat cttgcctcat gattaccagg acagcagcct ccccgtagga
      781 gtgtttgtgt gggatgtaga gaatgaagga gatgagactc tggatgtgtc catcatgttc
      841 tccatgcgga atggactagg aggtgaagat gatgctgccg gaggtttgtg gaacgagccc
      901 ttccgtctgg aacaggatgg gacgactgta caggggctac tcctgcatca tccaacccct
      961 ccgaacccct acaccatggc tgtggctgcg cgacacacgg cagataccac agtaacctac
     1021 accacagcct ttgaccccga cagcactggg cagcaggtgt ggcaggacct acttcaagat
     1081 ggacagctgg actcccctgc tggccagagc accccgacac agagaggaga gggtgtcgct
     1141 ggggctgtat gtgcctccag caagctgctg ccacgaggcc ggtgctgctt ggagttctca
     1201 ctggcttggg atatgcctag gatcatgttt ggagccaaag gccaagtcca ctacaggcgg
     1261 tatacacggt tctttggttc agatggtgat gtggcgcctg ccctgagcca ctatgccctg
     1321 tgccagtatg caggttggga gaacagcatc tcagcgtggc agaacccagt actggacgac
     1381 agatccttgc ctgcctggta caaatctgca ctgttcaatg aactatactt cctggctgat
     1441 ggaggcacgg tgtggctgga agttcctgaa gactccctac cagaggagct gggagggagt
     1501 atgtaccagc tgcgccctat tctgcaggac tatgggcgat ttggctatct cgaaggccag
     1561 gagtaccgca tgtacaacac atacgatgtc cacttctacg cttcttttgc tctcgtcatg
     1621 ctgtggccca aacttgagct cagtcttcag tatgatatgg ctctggcaac tttcaaggag
     1681 gacctgacac ggcgacggta cctgatgagt ggagtagtgg cgcctgtgaa aaggaggaac
     1741 gttatccctc atgatattgg ggatccagat gatgagccat ggctccgggt caacgcatat
     1801 ttgatccatg atactgctga ctggaaggac ctgaacctga agtttgtgtt gcaagtttat
     1861 cgggactatt acctgacagg cgatcaaggc ttcctgaagg acatgtggcc tgtgtgtctg
     1921 gctgtgatgg agtccgaaat gaagtttgat aaggaccaag atggactcat tgagaatgga
     1981 ggctatgcag accagaccta cgatggatgg gtcaccacag gccccagtgc ttactgcgga
     2041 gggctgtggc tggcagctgt ggctgtgatg gtccagatgg ccgttctgtg tggggcccag
     2101 gatgtccagg ataagttttc ttccattctc tgccgaggcc gggaagctta tgagagattg
     2161 ctctggaacg gacgctatta caactacgac agcagctccc agccacagtc ccgcagcgtc
     2221 atgtctgacc agtgtgctgg gcagtggttc ctgagggcct gcggcctggg agaaggagac
     2281 actgaagtat tccctaccct gcatgttgtc cgtgctctca aaaccatctt tgagctcaat
     2341 gtccaagcct tcgcaggagg agccatgggg gctgtgaatg ggatgcagcc tcatggtgtc
     2401 cctgataggt ccagtgtgca gtctgatgaa gtttgggtgg gcgtggtcta tgggctggca
     2461 gccaccatga tccaagaggg cctgacttgg gaaggtttcc ggacagctga aggctgttac
     2521 cgcactgtat gggaacgcct gggcctggct ttccagaccc cagaggcata ctgccagcag
     2581 cgagtgttcc gctccctggc ctacatgcgg cccctgagca tctgggccat gcagctggcc
     2641 cttcaacagc agcagcataa aaagaacagc agccggccag cagtcacaca aggcacagca
     2701 cccagcacag cctgaatgcg gaccaaagag atcactgtaa acctacgtcc agagcgatcc
     2761 cactgagctg tggaggccca gcctccgcac ggggcttccc tgcctcttcc cacaagtcct
     2821 gcagccctga gccaatagga caatcatgcc cctcctcttc ctaccccgct gtgccagtaa
     2881 gaaggggctg aggaaccact tatttatttc ttatccttcc cattccttct gtggatgaag
     2941 tattcaaggc cagtaaattt ctccaaatct attcatggga caacagatac acatgggtat
     3001 aaataaaatg ctcatacaac ta
//
