LOCUS       NM_008079               3826 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus galactosylceramidase (Galc), mRNA.
ACCESSION   NM_008079
VERSION     NM_008079.4
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  (bases 1 to 3826)
  AUTHORS   Favret,J., Maulik,M., Masoom,R., Kushwaha,M., Thompson,D.,
            Browne,R. and Shin,D.
  TITLE     Ablation of lipocalin-2 reduces neuroinflammation in a mouse model
            of Krabbe disease
  JOURNAL   Sci Rep 14 (1), 31822 (2024)
   PUBMED   39738378
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3826)
  AUTHORS   Saldivia,N., Heller,G., Zelada,D., Whitehair,J., Venkat,N.,
            Konjeti,A., Savitzky,R., Samano,S., Simchuk,D., van Breemen,R.,
            Givogri,M.I. and Bongarzone,E.R.
  TITLE     Deficiency of galactosyl-ceramidase in adult oligodendrocytes
            worsens disease severity during chronic experimental allergic
            encephalomyelitis
  JOURNAL   Mol Ther 32 (9), 3163-3176 (2024)
   PUBMED   38937968
  REMARK    GeneRIF: Deficiency of galactosyl-ceramidase in adult
            oligodendrocytes worsens disease severity during chronic
            experimental allergic encephalomyelitis.
REFERENCE   3  (bases 1 to 3826)
  AUTHORS   Favret,J., Nawaz,M.H., Patel,M., Khaledi,H., Gelb,M. and Shin,D.
  TITLE     Perinatal loss of galactosylceramidase in both oligodendrocytes and
            microglia is crucial for the pathogenesis of Krabbe disease in mice
  JOURNAL   Mol Ther 32 (7), 2207-2222 (2024)
   PUBMED   38734898
  REMARK    GeneRIF: Perinatal loss of galactosylceramidase in both
            oligodendrocytes and microglia is crucial for the pathogenesis of
            Krabbe disease in mice.
REFERENCE   4  (bases 1 to 3826)
  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   5  (bases 1 to 3826)
  AUTHORS   Alabed,H.B.R., Del Grosso,A., Bellani,V., Urbanelli,L., Carpi,S.,
            De Sarlo,M., Bertocci,L., Colagiorgio,L., Buratta,S., Scaccini,L.,
            Frongia Mancini,D., Tonazzini,I., Cecchini,M., Emiliani,C. and
            Pellegrino,R.M.
  TITLE     Untargeted Lipidomic Approach for Studying Different Nervous System
            Tissues of the Murine Model of Krabbe Disease
  JOURNAL   Biomolecules 13 (10), 1562 (2023)
   PUBMED   37892244
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3826)
  AUTHORS   Komiyama,A. and Suzuki,K.
  TITLE     Progressive impairment of Schwann cell proliferation in vitro in
            murine globoid cell leukodystrophy (twitcher)
  JOURNAL   Brain Res 598 (1-2), 1-9 (1992)
   PUBMED   1486471
REFERENCE   7  (bases 1 to 3826)
  AUTHORS   LeVine,S.M. and Torres,M.V.
  TITLE     Morphological features of degenerating oligodendrocytes in twitcher
            mice
  JOURNAL   Brain Res 587 (2), 348-352 (1992)
   PUBMED   1525668
REFERENCE   8  (bases 1 to 3826)
  AUTHORS   Huppes,W., De Groot,C.J., Ostendorf,R.H., Bauman,J.G., Gossen,J.A.,
            Smit,V., Vijg,J. and Dijkstra,C.D.
  TITLE     Detection of migrated allogeneic oligodendrocytes throughout the
            central nervous system of the galactocerebrosidase-deficient
            twitcher mouse
  JOURNAL   J Neurocytol 21 (2), 129-136 (1992)
   PUBMED   1348528
REFERENCE   9  (bases 1 to 3826)
  AUTHORS   Higashi,Y., Komiyama,A. and Suzuki,K.
  TITLE     The twitcher mouse: immunocytochemical study of Ia expression in
            macrophages
  JOURNAL   J Neuropathol Exp Neurol 51 (1), 47-57 (1992)
   PUBMED   1740674
REFERENCE   10 (bases 1 to 3826)
  AUTHORS   Ruggeri,B., Caamano,J., Goodrow,T., DiRado,M., Bianchi,A.,
            Trono,D., Conti,C.J. and Klein-Szanto,A.J.
  TITLE     Alterations of the p53 tumor suppressor gene during mouse skin
            tumor progression
  JOURNAL   Cancer Res 51 (24), 6615-6621 (1991)
   PUBMED   1742735
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC122317.4, D38557.1,
            BC086671.1 and BC065140.1.
            
            On Dec 11, 2014 this sequence version replaced NM_008079.3.
            
            Summary: This gene encodes galactosylceramidase, the lysosomal
            hydryolase involved in the catabolism of galactosylceramide.
            Mutations in this gene result in slow growth, tremors and hind leg
            weakness, collectively termed as the 'twitcher' phenotype. In
            humans, deficiency of this gene product causes a lysosomal storage
            disorder known as Krabbe disease. [provided by RefSeq, Dec 2014].
            
            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 :: AK154760.1, BC086671.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AC122317.4         52660-52711         c
            53-122              D38557.1           1-70
            123-3388            BC086671.1         1-3266
            3389-3826           BC065140.1         3262-3699
FEATURES             Location/Qualifiers
     source          1..3826
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 49.83 cM"
     gene            1..3826
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /note="galactosylceramidase"
                     /db_xref="GeneID:14420"
                     /db_xref="MGI:MGI:95636"
     exon            1..325
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..2185
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /EC_number="3.2.1.46"
                     /note="GALCERase; galactocerebroside beta-galactosidase;
                     galactosylceramide beta-galactosidase;
                     galactocerebrosidase"
                     /codon_start=1
                     /product="galactocerebrosidase precursor"
                     /protein_id="NP_032105.2"
                     /db_xref="CCDS:CCDS36517.1"
                     /db_xref="GeneID:14420"
                     /db_xref="MGI:MGI:95636"
                     /translation="MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGAYV
                     LDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEI
                     GGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKG
                     FSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGL
                     QRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDF
                     STINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGH
                     YVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHS
                     MCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDG
                     SGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFA
                     DQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVY
                     IETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVT
                     AKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEA
                     AR"
     exon            326..394
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            395..458
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            459..572
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            573..712
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            713..751
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            752..882
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1038
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1163
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1291
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1381
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1468
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1619
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1797
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1798..1961
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2038
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
     exon            2039..3826
                     /gene="Galc"
                     /gene_synonym="2310068B06Rik; A930008M05Rik; Gacy; twi;
                     twitcher"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aacagcggct gcgcggacag cccgcagccc tcacttaaga tggcgaaagc ttcctcagcc
       61 gcccgctctt cttcctcagg gaggcgatcg ggcccgcctc cccgggcgcc acagtcgcgt
      121 gacccgcaca atggctaaca gccaacctaa ggcttcccag caacgccaag caaaagtcat
      181 gaccgccgcc gcgggctcgg cgagccgtgt tgcggtgccc ttattgttgt gtgcgctgct
      241 agtgcccggt ggcgcctacg tgctagacga ctccgacggg ctgggccggg agttcgatgg
      301 catcggcgca gtcagcggcg gcggggcaac ctcccggctt ctagtaaatt acccagagcc
      361 ctatcgttct gaaatactgg attatctatt taagccaaac tttggtgcct ctttgcatat
      421 tctaaaagtg gagataggtg gtgatggaca aacaacagat ggcactgaac cctcgcacat
      481 gcactatgag ctagatgaga attatttccg aggctatgag tggtggctaa tgaaggaagc
      541 taagaagcgg aacccagata ttatacttat ggggttgcca tggtcattcc ctggatggct
      601 gggcaaaggc ttcagctggc cttatgtaaa tcttcagctc actgcctact atgttgtaag
      661 atggattttg ggtgccaagc attatcatga cctggacatt gattatattg ggatttggaa
      721 tgaaaggccg tttgacgcca actatataaa ggaattaaga aaaatgctgg attatcaagg
      781 tctccagcga gtgagaatca tagcgagcga taatctctgg gagccgattt cctcttcctt
      841 gctgctggac caggaactct ggaaggtggt tgatgttata ggagctcact atcctggaac
      901 ctacacagtg tggaatgcaa agatgtcagg gaagaagctg tggtcatctg aagattttag
      961 cactatcaac agtaatgttg gcgcaggctg ttggagtcgc atattgaacc agaattacat
     1021 caatggcaat atgacctcca caattgcttg gaatttggtg gctagttact atgaagagtt
     1081 gccttatgga cgaagtgggt tgatgacggc ccaggagcca tggagtggac attatgtcgt
     1141 agcatctcct atctgggtat cagctcacac aacccagttt actcaaccag gctggtatta
     1201 cctgaagaca gtgggccatc tagagaaagg aggaagttat gttgctctga ctgatggctt
     1261 gggaaacctc accatcatca ttgaaactat gagtcatcaa cattctatgt gtatacggcc
     1321 atatctgcca tattataatg tctcacatca gctggctacc ttcactctaa agggatcttt
     1381 gagagaaata caagagctgc aggtgtggta taccaagctg ggaactccgc agcagagact
     1441 tcattttaaa caactggata ctctatggct ccttgacggc agcggcagtt tcacactgga
     1501 actggaggag gacgagatat ttacgctcac cactctgacc acaggtcgca aaggcagcta
     1561 ccctccccct cccagctcga agcccttccc aaccaactac aaggatgatt tcaatgttga
     1621 gtacccactt tttagtgaag ctccgaattt tgctgatcag actggcgtgt ttgagtacta
     1681 catgaataat gaagaccgtg agcaccgctt cacgctgcgc caagttctca accaacgacc
     1741 tattacctgg gctgcagacg cttccagcac aatcagtgtt ataggcgatc accactggac
     1801 caacatgact gtgcagtgcg atgtttatat agagacccct cggagcggcg gcgtattcat
     1861 tgctggaaga gtgaataaag gtggaatctt gattagaagt gctacaggag tctttttctg
     1921 gatttttgca aatggctctt acagagtcac agctgacctg ggtggatgga taacgtatgc
     1981 ttcaggacat gcggacgtta cagctaaacg atggtacaca ctcaccttag gcattaaggg
     2041 ttatttcgcc tttggtatgt tgaacggcac gatcctatgg aaaaacgtcc gtgtgaaata
     2101 cccagggcat ggctgggctg cgatcggaac acacaccttc gagtttgcgc agtttgacaa
     2161 ctttcgcgtg gaagctgctc gctagtccac acggggcgtc aagacatgat ttggattttc
     2221 tatttttgat tttggttcag ggcgaattct gattttgatg gatctatata tgagcctttg
     2281 aggctaacga taatgaggag taaatagggg acatggtgca tttttgctgg atcctgtgaa
     2341 aggtttattt agagccgatt ccagagggga tgcaggtagt ctttgacact ctctgtggta
     2401 gctctcaagg cccacggttg ttcagtccca tccttcaggg gtgcttgggc gggttctgcc
     2461 cttgcagcct tcgcactaat accaaggtag ctcattccac attgtttgta aatgatcgtg
     2521 caggcaactg gggccacaga ggagcttttg tgagcctagc cacacgcctc agtcaaggct
     2581 tccttagaag atggtgatgc tcaaggggaa actgatgagc actacagcga gtacttcact
     2641 gtgcagtcgt ctctccctct ccctccatct cccctcccct cacccatgcc ctcccccccc
     2701 cccccaggat gatacttttg gagttgtgtg agatgatggt gggatgattt gacaattacc
     2761 tcattaataa actaacactg aagccatttc tgcagtaata aaaaacaacc agattaactg
     2821 ggttgtttgt actttttaac gatcttacat ccaactttta gatgttatca cccttataac
     2881 cgccttgagc acatttcccc catataagct ggtgccgtag gcgaatctaa ctgcttccct
     2941 gttcatttct tgtgcctttt gcagtgagtc ctcacaaggg gctctgaacg cagcccagca
     3001 ccggtgaatg ccttcatctg tcaatgtgtg gcaggaggga ccgccgaggg tttaactagc
     3061 tcacagattt ggatcatctc ctgatgtttt tggatagatg cacttaatat attcccaggg
     3121 tttagattta aatgttgcta agcatgtttc tcattagtat gatttatgta acattaatgt
     3181 aactcttaga aacagaccag ttctccatgt gggtaaagtg aactctggaa ttctttataa
     3241 ggaaaactta ctcattgaca taacgctgct ccatgggaat tggtagtgct ccagcgaggc
     3301 agaagtacag tgaggtctgt attacttccg aaaacttgaa accaaggcta aatgatttac
     3361 tgtttagatt ttaaattatt tttgaaaaat aacatacaag tgtaatttat atgtcttaaa
     3421 atattctcat tttaagtgtc tagtttgttt taataatttt gtaaacattc cctgtaaccc
     3481 acactccaat gaagctactg aatatttgca tcactccaga aagttctctg ctatacctgt
     3541 gcaatccatt ccgctcactc ctaatttcaa gcaacagtga tgtctctgtt gccaaaatat
     3601 tgtttgtttt gaaagcatgg aagtgacagg atgcgctgtg gactcttctg gatgtgtgtt
     3661 ttccgtcagc gggatgctgt aagatttgtc cagtgtgtaa ggttttgcca aagtggtaca
     3721 ctgctcctta tttctgaagg gagcagcatt gaatggatgc accaccattg gttttccatc
     3781 tcctattttt atgagatgaa aaataaaagt catcacagca ctaaca
//
