LOCUS       NP_001013109             904 aa            linear   ROD 31-MAR-2024
DEFINITION  non-lysosomal glucosylceramidase [Rattus norvegicus].
ACCESSION   NP_001013109 XP_001069986 XP_216490
VERSION     NP_001013109.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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  (residues 1 to 904)
  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
            XP_216490.4, XP_001069986.1, NP_001013109.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Rattus norvegicus"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="5"
                     /map="5q22"
     Protein         1..904
                     /product="non-lysosomal glucosylceramidase"
                     /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"
                     /calculated_mol_wt=101692
     Region          157..446
                     /region_name="Glyco_hydr_116N"
                     /note="beta-glucosidase 2, glycosyl-hydrolase family 116
                     N-term; pfam12215"
                     /db_xref="CDD:463496"
     Region          512..875
                     /region_name="DUF608"
                     /note="Glycosyl-hydrolase family 116, catalytic region;
                     pfam04685"
                     /db_xref="CDD:461391"
     CDS             1..904
                     /gene="Gba2"
                     /coded_by="NM_001013091.2:1..2715"
                     /db_xref="GeneID:298399"
                     /db_xref="RGD:1305598"
ORIGIN      
        1 mvtcvpaseq igcaerdsqi ysedtggtea vrvtdcrspe dsgpqnepgy cnsedsgqlm
       61 asyegkargy qvppfgwric lahefaekrk pfqannvsls nlvkhfgmgl rylkwwyrkt
      121 qvekktpfid mfnsvplrqi ygcplggigg gtitrgwrgq fcrwqlnpgm yqhqtviadq
      181 fivclrrdgr tvyqqvlsle lpsvlrswnw glcgyfafyh alyprawtvy qlpgqnvtlt
      241 crqitpilph dyqdsslpvg vfvwdveneg detldvsimf smrnglgged daagglwnep
      301 frleqdgttv qglllhhptp pnpytmavaa rhtadttvty ttafdpdstg qqvwqdllqd
      361 gqldspagqs tptqrgegva gavcasskll prgrcclefs lawdmprimf gakgqvhyrr
      421 ytrffgsdgd vapalshyal cqyagwensi sawqnpvldd rslpawyksa lfnelyflad
      481 ggtvwlevpe dslpeelggs myqlrpilqd ygrfgylegq eyrmyntydv hfyasfalvm
      541 lwpklelslq ydmalatfke dltrrrylms gvvapvkrrn viphdigdpd depwlrvnay
      601 lihdtadwkd lnlkfvlqvy rdyyltgdqg flkdmwpvcl avmesemkfd kdqdglieng
      661 gyadqtydgw vttgpsaycg glwlaavavm vqmavlcgaq dvqdkfssil crgreayerl
      721 lwngryynyd sssqpqsrsv msdqcagqwf lracglgegd tevfptlhvv ralktifeln
      781 vqafaggamg avngmqphgv pdrssvqsde vwvgvvygla atmiqegltw egfrtaegcy
      841 rtvwerlgla fqtpeaycqq rvfrslaymr plsiwamqla lqqqqhkkns srpavtqgta
      901 psta
//
