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    GALC galactosylceramidase [ Canis lupus familiaris (dog) ]

    Gene ID: 403916, updated on 17-Aug-2024

    Summary

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    Official Symbol
    GALCprovided by VGNC
    Official Full Name
    galactosylceramidaseprovided by VGNC
    Primary source
    VGNC:VGNC:41079
    See related
    Ensembl:ENSCAFG00845009690
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Orthologs
    human mouse all
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    Genomic context

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    See GALC in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 8 NC_051812.1 (59531522..59589663, complement)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 8 NC_006590.4 (58846151..58903131, complement)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 8 NC_049229.1 (59594667..59651690, complement)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 8 NC_049268.1 (59214260..59271257, complement)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 8 NC_049749.1 (59260650..59317658, complement)

    Chromosome 8 - NC_051812.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC111097239 Neighboring gene uncharacterized LOC119873017 Neighboring gene chromosome 9 open reading frame 78 ortholog pseudogene Neighboring gene uncharacterized LOC102154577 Neighboring gene uncharacterized LOC111097131

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease). Bradbury AM, et al. J Neurosci Res, 2016 Nov. PMID 27638585, Free PMC Article
    2. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Victoria T, et al. Genomics, 1996 May 1. PMID 8661004
    3. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    4. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonistrated that CNS and PNS disease progression can be quantified over time in the canine model of GLD with tools identical to those used to assess human patients.
      Title: Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease).
    Submit: New GeneRIF Correction

    General gene information

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    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables galactosylceramidase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in galactosylceramide catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    galactocerebrosidase
    Names
    GALCERase
    casein kinase 2, beta polypeptide pseudogene
    galactocerebroside beta-galactosidase
    galactosylceramidase (Krabbe disease)
    galactosylceramide beta-galactosidase
    NP_001003238.1
    XP_038528772.1
    XP_038528773.1
    XP_038528774.1
    XP_038528775.1
    XP_038528776.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001003238.1 → NP_001003238.1  galactocerebrosidase precursor

      See identical proteins and their annotated locations for NP_001003238.1

      Status: PROVISIONAL

      Source sequence(s)
      L76184
      UniProtKB/Swiss-Prot
      P54804
      UniProtKB/TrEMBL
      A0A8C0Q4R5
      Related
      ENSCAFP00845013315.1, ENSCAFT00845017098.1
      Conserved Domains (2) summary
      pfam02057
      Location:51 → 333
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:341 → 456
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051812.1 Reference ROS_Cfam_1.0

      Range
      59531522..59589663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038672845.1 → XP_038528773.1  galactocerebrosidase isoform X1

      UniProtKB/TrEMBL
      A0A8I3NF27, A0A8P0NLV4
      Conserved Domains (3) summary
      pfam02057
      Location:70 → 353
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:361 → 476
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
      cl02099
      Location:3 → 32
      CK_II_beta; Casein kinase II regulatory subunit

    2. XM_038672847.1 → XP_038528775.1  galactocerebrosidase isoform X2

      UniProtKB/TrEMBL
      A0A8I3N8Q2
      Related
      ENSCAFP00845013402.1, ENSCAFT00845017197.1
      Conserved Domains (2) summary
      pfam02057
      Location:1 → 233
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:241 → 356
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

    3. XM_038672846.1 → XP_038528774.1  galactocerebrosidase isoform X1

      UniProtKB/TrEMBL
      A0A8I3NF27, A0A8P0NLV4
      Conserved Domains (3) summary
      pfam02057
      Location:70 → 353
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:361 → 476
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
      cl02099
      Location:3 → 32
      CK_II_beta; Casein kinase II regulatory subunit

    4. XM_038672848.1 → XP_038528776.1  galactocerebrosidase isoform X2

      UniProtKB/TrEMBL
      A0A8I3N8Q2
      Conserved Domains (2) summary
      pfam02057
      Location:1 → 233
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:241 → 356
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

    5. XM_038672844.1 → XP_038528772.1  galactocerebrosidase isoform X1

      UniProtKB/TrEMBL
      A0A8I3NF27, A0A8P0NLV4
      Related
      ENSCAFP00845013453.1, ENSCAFT00845017262.1
      Conserved Domains (3) summary
      pfam02057
      Location:70 → 353
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:361 → 476
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
      cl02099
      Location:3 → 32
      CK_II_beta; Casein kinase II regulatory subunit

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049268.1 Alternate UMICH_Zoey_3.1

      Range
      59214260..59271257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049749.1 Alternate UNSW_CanFamBas_1.0

      Range
      59260650..59317658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049229.1 Alternate UU_Cfam_GSD_1.0

      Range
      59594667..59651690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006590.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      58846151..58903131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54804.1 GenPept UniProtKB/Swiss-Prot:P54804

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials