LOCUS       NP_766280                918 aa            linear   ROD 02-MAY-2024
DEFINITION  non-lysosomal glucosylceramidase isoform 1 [Mus musculus].
ACCESSION   NP_766280
VERSION     NP_766280.2
DBSOURCE    REFSEQ: accession NM_172692.4
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  (residues 1 to 918)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (residues 1 to 918)
  AUTHORS   Akiyama,H., Ide,M., Nagatsuka,Y., Sayano,T., Nakanishi,E.,
            Uemura,N., Yuyama,K., Yamaguchi,Y., Kamiguchi,H., Takahashi,R.,
            Aerts,J.M.F.G., Greimel,P. and Hirabayashi,Y.
  TITLE     Glucocerebrosidases catalyze a transgalactosylation reaction that
            yields a newly-identified brain sterol metabolite, galactosylated
            cholesterol
  JOURNAL   J Biol Chem 295 (16), 5257-5277 (2020)
   PUBMED   32144204
REFERENCE   3  (residues 1 to 918)
  AUTHORS   Clarke,E., Jantrachotechatchawan,C., Buhidma,Y., Broadstock,M.,
            Yu,L., Howlett,D., Aarsland,D., Ballard,C. and Francis,P.T.
  TITLE     Age-related neurochemical and behavioural changes in D409V/WT GBA1
            mouse: Relevance to lewy body dementia
  JOURNAL   Neurochem Int 129, 104502 (2019)
   PUBMED   31299418
  REMARK    GeneRIF: In heterozygous GBA1 mutant mice, there was also
            significantly reduced GBA2 GCase enzyme activity specifically
            within the hippocampus.  Such reductions in GBA2 GCase enzyme could
            contribute to the pathological and behavioural effects seen.
REFERENCE   4  (residues 1 to 918)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 918)
  AUTHORS   Woeste,M.A., Stern,S., Raju,D.N., Grahn,E., Dittmann,D.,
            Gutbrod,K., Dormann,P., Hansen,J.N., Schonauer,S., Marx,C.E.,
            Hamzeh,H., Korschen,H.G., Aerts,J.M.F.G., Bonigk,W., Endepols,H.,
            Sandhoff,R., Geyer,M., Berger,T.K., Bradke,F. and Wachten,D.
  TITLE     Species-specific differences in nonlysosomal glucosylceramidase
            GBA2 function underlie locomotor dysfunction arising from
            loss-of-function mutations
  JOURNAL   J Biol Chem 294 (11), 3853-3871 (2019)
   PUBMED   30662006
  REMARK    GeneRIF: results shed light on the molecular mechanism underlying
            the pathogenesis of GBA2-related hereditary spastic paraplegia
            (HSP), autosomal-recessive cerebellar ataxia (ARCA) and reveal
            species-specific differences in GBA2 function in vivo
REFERENCE   6  (residues 1 to 918)
  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
  REMARK    GeneRIF: GBA2 is a glucosylceramidase whose loss causes
            accumulation of glycolipids and an endoplasmic reticulum storage
            disease
REFERENCE   7  (residues 1 to 918)
  AUTHORS   Lau,N.C., Seto,A.G., Kim,J., Kuramochi-Miyagawa,S., Nakano,T.,
            Bartel,D.P. and Kingston,R.E.
  TITLE     Characterization of the piRNA complex from rat testes
  JOURNAL   Science 313 (5785), 363-367 (2006)
   PUBMED   16778019
REFERENCE   8  (residues 1 to 918)
  AUTHORS   Blackshaw,S., Harpavat,S., Trimarchi,J., Cai,L., Huang,H.,
            Kuo,W.P., Weber,G., Lee,K., Fraioli,R.E., Cho,S.H., Yung,R.,
            Asch,E., Ohno-Machado,L., Wong,W.H. and Cepko,C.L.
  TITLE     Genomic analysis of mouse retinal development
  JOURNAL   PLoS Biol 2 (9), E247 (2004)
   PUBMED   15226823
REFERENCE   9  (residues 1 to 918)
  AUTHORS   Okazaki,N., F-Kikuno,R., Ohara,R., Inamoto,S., Koseki,H.,
            Hiraoka,S., Saga,Y., Seino,S., Nishimura,M., Kaisho,T., Hoshino,K.,
            Kitamura,H., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   10 (residues 1 to 918)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL732626.8.
            
            On Jun 18, 2009 this sequence version replaced NP_766280.1.
            
            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 :: BC056935.1, AK173213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164138, SAMN01164139
                                           [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..918
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 23.05 cM"
     Protein         1..918
                     /product="non-lysosomal glucosylceramidase isoform 1"
                     /EC_number="3.2.1.45"
                     /EC_number="3.2.1.46"
                     /note="glucosidase, beta (bile acid) 2; non-lysosomal
                     glucosylceramidase; NLGase; beta-glucosidase 2;
                     glucosylceramidase 2; beta-glucocerebrosidase 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=103163
     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"
     Region          886..918
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69ZF3.2)"
     Site            893
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q69ZF3.2)"
     CDS             1..918
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /coded_by="NM_172692.4:547..3303"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS18103.1"
                     /db_xref="GeneID:230101"
                     /db_xref="MGI:MGI:2654325"
ORIGIN      
        1 mvtcvpaseq vgcaerdsqv ycedtggtea vrvtdcgspe dsgpqdepsy cnsedsgqlm
       61 asyegkargy qvppfgwric lahefaekrr pfqannisls nlvkhlgmgl rylkwwyrkt
      121 hvekktpfid mlnslplrqi ygcplggigg gtitrgwrgq fcrwqlnpgm yqhqtviadq
      181 fivclrrdgr tvyqqvlsle lpnvlrswnw glcgyfafyh alyprawtvy qlpgqnvtlt
      241 crqvtpilph dyqdsslpvg vfvwdveneg detldvsitf smrnglgged daagslwnep
      301 frleqggttv qglllhhptp pnpytmavaa rctadttvth ttafdpngtg qqvwqdllqd
      361 gqldspagqs tptqkgegia gavcvsskll prsrcclefs lawdmpkimf gaksqvhyrr
      421 ytrffgsdgd vapalshyal chyadwedri sawqnpvldd rtlpawyksa lfnelyflad
      481 ggtvwlevpa dslpeglggs mrqlrstlqd ygrfgylegq eyrmyntydv hfyasfalvm
      541 lwpklelslq ydmalatlke dltrrrylms gvvapvkrrn viphdigdpd depwlrvnay
      601 lihdtadwkd lnlkfvlqiy rdyyltgdqg fledmwpvcl avmesemkfd kdqdglieng
      661 gyadqtydaw vttgpsaycg glwlaavavm vqmavlcgaq dvqerfasil crgreayerl
      721 lwngryynyd ssshpqsrsi msdqcagqwf lracglgegd tevfptlhvv ralqtifeln
      781 vqafaggamg avngmhphgv pdrssvqsde vwvgvvygla atmiqegltw egfrtaegcy
      841 rtvwerlgla fqtpeaycqq qvfrslaymr plsiwamqla lqqqqhkksr rpsvtqgtgl
      901 stqpecgpkr slanlnse
//
