LOCUS       NM_000153               3794 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens galactosylceramidase (GALC), transcript variant 1,
            mRNA.
ACCESSION   NM_000153
VERSION     NM_000153.4
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 3794)
  AUTHORS   Jia,W., Luo,Y., Zhang,T., Yang,Y. and Zhang,X.
  TITLE     A novel mutation in the GALC gene causes Krabbe disease accompanied
            with extensive Mongolian spots in a consanguineous family
  JOURNAL   Neurol Sci 44 (7), 2605-2608 (2023)
   PUBMED   36920572
  REMARK    GeneRIF: A novel mutation in the GALC gene causes Krabbe disease
            accompanied with extensive Mongolian spots in a consanguineous
            family.
REFERENCE   2  (bases 1 to 3794)
  AUTHORS   Senkevich,K., Zorca,C.E., Dworkind,A., Rudakou,U., Somerville,E.,
            Yu,E., Ermolaev,A., Nikanorova,D., Ahmad,J., Ruskey,J.A.,
            Asayesh,F., Spiegelman,D., Fahn,S., Waters,C., Monchi,O.,
            Dauvilliers,Y., Dupre,N., Greenbaum,L., Hassin-Baer,S., Grenn,F.P.,
            Chiang,M.S.R., Sardi,S.P., Vanderperre,B., Blauwendraat,C.,
            Trempe,J.F., Fon,E.A., Durcan,T.M., Alcalay,R.N. and Gan-Or,Z.
  TITLE     GALC variants affect galactosylceramidase enzymatic activity and
            risk of Parkinson's disease
  JOURNAL   Brain 146 (5), 1859-1872 (2023)
   PUBMED   36370000
  REMARK    GeneRIF: GALC variants affect galactosylceramidase enzymatic
            activity and risk of Parkinson's disease.
REFERENCE   3  (bases 1 to 3794)
  AUTHORS   Iacono,D., Koga,S., Peng,H., Manavalan,A., Daiker,J.,
            Castanedes-Casey,M., Martin,N.B., Herdt,A.R., Gelb,M.H.,
            Dickson,D.W. and Lee,C.W.
  TITLE     Galactosylceramidase deficiency and pathological abnormalities in
            cerebral white matter of Krabbe disease
  JOURNAL   Neurobiol Dis 174, 105862 (2022)
   PUBMED   36113749
  REMARK    GeneRIF: Galactosylceramidase deficiency and pathological
            abnormalities in cerebral white matter of Krabbe disease.
REFERENCE   4  (bases 1 to 3794)
  AUTHORS   Kubo,H., Murayama,Y., Ogawa,S., Matsumoto,T., Yubakami,M.,
            Ohashi,T., Kubota,T., Okamoto,K., Kamiya,M., Urano,Y. and Otsuji,E.
  TITLE     beta-Galactosidase is a target enzyme for detecting peritoneal
            metastasis of gastric cancer
  JOURNAL   Sci Rep 11 (1), 10664 (2021)
   PUBMED   34021168
  REMARK    GeneRIF: beta-Galactosidase is a target enzyme for detecting
            peritoneal metastasis of gastric cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3794)
  AUTHORS   Luzi,P., Rafi,M.A. and Wenger,D.A.
  TITLE     Structure and organization of the human galactocerebrosidase (GALC)
            gene
  JOURNAL   Genomics 26 (2), 407-409 (1995)
   PUBMED   7601472
REFERENCE   6  (bases 1 to 3794)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 3794)
  AUTHORS   Orsini,J.J., Escolar,M.L., Wasserstein,M.P. and Caggana,M.
  TITLE     Krabbe Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301416
REFERENCE   8  (bases 1 to 3794)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   9  (bases 1 to 3794)
  AUTHORS   Kodama,S., Igisu,H., Siegel,D.A. and Suzuki,K.
  TITLE     Glycosylceramide synthesis in the developing spinal cord and kidney
            of the twitcher mouse, an enzymatically authentic model of human
            Krabbe disease
  JOURNAL   J Neurochem 39 (5), 1314-1318 (1982)
   PUBMED   6811701
REFERENCE   10 (bases 1 to 3794)
  AUTHORS   Duchen,L.W., Eicher,E.M., Jacobs,J.M., Scaravilli,F. and
            Teixeira,F.
  TITLE     Hereditary leucodystrophy in the mouse: the new mutant twitcher
  JOURNAL   Brain 103 (3), 695-710 (1980)
   PUBMED   7417782
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157955.5 and AL136501.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000153.3.
            
            Summary: This gene encodes a lysosomal protein which hydrolyzes the
            galactose ester bonds of galactosylceramide, galactosylsphingosine,
            lactosylceramide, and monogalactosyldiglyceride. Mutations in this
            gene have been associated with Krabbe disease, also known as
            globoid cell leukodystrophy. Alternate transcriptional splice
            variants, encoding different isoforms, have been characterized.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: HM005711.1, HM005712.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261304.7/ ENSP00000261304.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-213               AL157955.5         39601-39813         c
            214-282             AL157955.5         35086-35154         c
            283-346             AL157955.5         34775-34838         c
            347-460             AL157955.5         33120-33233         c
            461-600             AL157955.5         31025-31164         c
            601-639             AL157955.5         28836-28874         c
            640-770             AL157955.5         22989-23119         c
            771-926             AL136501.4         177520-177675       c
            927-1051            AL136501.4         174690-174814       c
            1052-1179           AL136501.4         172569-172696       c
            1180-1269           AL136501.4         159844-159933       c
            1270-1356           AL136501.4         159030-159116       c
            1357-1507           AL136501.4         156913-157063       c
            1508-1688           AL136501.4         154738-154918       c
            1689-1852           AL136501.4         150580-150743       c
            1853-1929           AL136501.4         149090-149166       c
            1930-3794           AL136501.4         142199-144063       c
FEATURES             Location/Qualifiers
     source          1..3794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     gene            1..3794
                     /gene="GALC"
                     /note="galactosylceramidase"
                     /db_xref="GeneID:2581"
                     /db_xref="HGNC:HGNC:4115"
                     /db_xref="MIM:606890"
     exon            1..213
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..2076
                     /gene="GALC"
                     /EC_number="3.2.1.46"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; galactocerebrosidase; GALCERase;
                     galactosylceramide beta-galactosidase; galactocerebroside
                     beta-galactosidase; galactosylceraminidase; testis tissue
                     sperm-binding protein Li 88E; testis tissue sperm-binding
                     protein Li 89A"
                     /codon_start=1
                     /product="galactocerebrosidase isoform a precursor"
                     /protein_id="NP_000144.2"
                     /db_xref="CCDS:CCDS9878.2"
                     /db_xref="GeneID:2581"
                     /db_xref="HGNC:HGNC:4115"
                     /db_xref="MIM:606890"
                     /translation="MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYV
                     LDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEI
                     GGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKG
                     FDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGL
                     QRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDF
                     STLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGH
                     YVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHS
                     KCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDS
                     DGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFA
                     DQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDV
                     YIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEV
                     TAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVE
                     ATR"
     exon            214..282
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            283..346
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            347..460
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            461..600
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            601..639
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            640..770
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            771..926
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1051
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1179
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1269
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1356
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1507
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1688
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1852
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1929
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     exon            1930..3794
                     /gene="GALC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3772..3777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALC"
                     /note="hexamer: ATTAAA"
     polyA_site      3794
                     /gene="GALC"
                     /note="major polyA site"
ORIGIN      
        1 agtcatgtga cccacacaat ggctgagtgg ctactctcgg cttcctggca acgccgagcg
       61 aaagctatga ctgcggccgc gggttcggcg ggccgcgccg cggtgccctt gctgctgtgt
      121 gcgctgctgg cgcccggcgg cgcgtacgtg ctcgacgact ccgacgggct gggccgggag
      181 ttcgacggca tcggcgcggt cagcggcggc ggggcaacct cccgacttct agtaaattac
      241 ccagagccct atcgttctca gatattggat tatctcttta agccgaattt tggtgcctct
      301 ttgcatattt taaaagtgga aataggtggt gatgggcaga caacagacgg cactgagccc
      361 tcccacatgc attatgcact agatgagaat tatttccgag gatacgagtg gtggttgatg
      421 aaagaagcta agaagaggaa tcccaatatt acactcattg ggttgccatg gtcattccct
      481 ggatggctgg gaaaaggttt cgactggcct tatgtcaatc ttcagctgac tgcctattat
      541 gtcgtgacct ggattgtggg cgccaagcgt taccatgatt tggacattga ttatattgga
      601 atttggaatg agaggtcata taatgccaat tatattaaga tattaagaaa aatgctgaat
      661 tatcaaggtc tccagcgagt gaaaatcata gcaagtgata atctctggga gtccatctct
      721 gcatccatgc tccttgatgc cgaactcttc aaggtggttg atgttatagg ggctcattat
      781 cctggaaccc attcagcaaa agatgcaaag ttgactggga agaagctttg gtcttctgaa
      841 gactttagca ctttaaatag tgacatgggt gcaggctgct ggggtcgcat tttaaatcag
      901 aattatatca atggctatat gacttccaca atcgcatgga atttagtggc tagttactat
      961 gaacagttgc cttatgggag atgcgggttg atgacggccc aggagccatg gagtgggcac
     1021 tacgtggtag aatctcctgt ctgggtatca gctcatacca ctcagtttac tcaacctggc
     1081 tggtattacc tgaagacagt tggccattta gagaaaggag gaagctacgt agctctgact
     1141 gatggcttag ggaacctcac catcatcatt gaaaccatga gtcataaaca ttctaagtgc
     1201 atacggccat ttcttcctta tttcaatgtg tcacaacaat ttgccacctt tgttcttaag
     1261 ggatctttta gtgaaatacc agagctacag gtatggtata ccaaacttgg aaaaacatcc
     1321 gaaagatttc tttttaagca gctggattct ctatggctcc ttgacagcga tggcagtttc
     1381 acactgagcc tgcatgaaga tgagctgttc acactcacca ctctcaccac tggtcgcaaa
     1441 ggcagctacc cgcttcctcc aaaatcccag cccttcccaa gtacctataa ggatgatttc
     1501 aatgttgatt acccattttt tagtgaagct ccaaactttg ctgatcaaac tggtgtattt
     1561 gaatatttta caaatattga agaccctggc gagcatcact tcacgctacg ccaagttctc
     1621 aaccagagac ccattacatg ggctgccgat gcatccaaca caatcagtat tataggagac
     1681 tacaactgga ccaatctgac tataaagtgt gatgtataca tagagacccc tgacacagga
     1741 ggtgtgttca ttgcaggaag agtaaataaa ggtggtattt tgattagaag tgccagagga
     1801 attttcttct ggatttttgc aaatggatct tacagggtta caggtgattt agctggatgg
     1861 attatatatg ctttaggacg tgttgaagtt acagcaaaaa aatggtatac actcacgtta
     1921 actattaagg gtcatttcac ctctggcatg ctgaatgaca agtctctgtg gacagacatc
     1981 cctgtgaatt ttccaaagaa tggctgggct gcaattggaa ctcactcctt tgaatttgca
     2041 cagtttgaca actttcttgt ggaagccaca cgctaatact taacagggca tcatagaata
     2101 ctctggattt tcttcccttc tttttggttt tggttcagag ccaattcttg tttcattgga
     2161 acagtatatg aggcttttga gactaaaaat aatgaagagt aaaaggggag agaaatttat
     2221 ttttaattta ccctgtggaa gattttatta gaattaattc caaggggaaa actggtgaat
     2281 ctttaacatt acctggtgtg ttccctaaca ttcaaactgt gcattggcca tacccttagg
     2341 agtggtttga gtagtacaga cctcgaagcc ttgctgctaa cactgaggta gctctcttca
     2401 tcttatttgc aagcggtcct gtagatggca gtaacttgat catcactgag atgtatttat
     2461 gcatgctgac cgtgtgtcca agtgagccag tgtcttcatc acaagatgat gctgccataa
     2521 tagaaagctg aagaacacta gaagtagctt tttgaaaacc acttcaacct gttatgcttt
     2581 atgctctaaa aagtattttt ttattttcct ttttaagatg atacttttga aatgcaggat
     2641 atgatgagtg ggatgatttt aaaaatgcct ctttaataaa ctacctctaa cactatttct
     2701 gcagtaatag atattagcag attaattggg ttatttgcat tatttaattt ttttgattcc
     2761 aagttttggt cttgtaacca ctataactct ctgtgaacgt ttttccaggt ggctggaaga
     2821 aggaagaaaa cctgatatag ccaatgctgt tgtagtcgtt tcctcagcct catctcactg
     2881 tgctgtggtc tgtcctcaca tgtgcactgg taacagactc acacagctga tgaatgcttt
     2941 tctctcctta tgtgtggaag gaggggagca cttagacatt tgctaactcc cagaattgga
     3001 tcatctccta agatgtactt actttttaaa gtccaaatat gtttatattt aaatatacgt
     3061 gagcgtgttc atcatgttgt atgatttata ctaagcatta atgtggctct atgtagcaaa
     3121 tcagttattc atgtaggtaa agtaaatcta gaattattta taagaattac tcattgaact
     3181 aattctacta tttaggaatt tgtaagagtc taacataggc ttagctacag tgaagttttg
     3241 cattgctttt gaagacaaga agataagtgc tagaataaat aagattacag agaaaatttt
     3301 ttgttaaaac caagtgattt ccagctgatg tatctaatat tttttaaaac gaacattata
     3361 gaggtgtaat ttatttacaa taaaatgttc ctactttaaa tatacaattc agtgagtttt
     3421 gataaattga tatacccatg taaccaacac tccagtcaag cttcagaata tttccatcac
     3481 cccagaaggt tctcttgtat acctgctcag tcagttcctt tcactcccaa ttgttggcag
     3541 ccattgatag gaattctatc actataggtt agttttcttt gttccagaac atcatgaaag
     3601 cggcgtcatg tactgtgtat tcttatgaat ggtttctttc catcagcata atgatttgag
     3661 atttgtccat gttgtgtgat tcagtggttt gttccttctt atttctgaag agttttccat
     3721 tgtatgaata taccacaatt tgtttcctcc ccaccagttt ctgatactac aattaaaact
     3781 gtctacattt acaa
//
