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    Galc galactosylceramidase [ Mus musculus (house mouse) ]

    Gene ID: 14420, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Galcprovided by MGI
    Official Full Name
    galactosylceramidaseprovided by MGI
    Primary source
    MGI:MGI:95636
    See related
    Ensembl:ENSMUSG00000021003 AllianceGenome:MGI:95636
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    twi; Gacy; twitcher; 2310068B06Rik; A930008M05Rik
    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]
    Expression
    Ubiquitous expression in kidney adult (RPKM 11.0), testis adult (RPKM 4.6) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 E; 12 49.83 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (98168543..98226565, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (98202287..98259459, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35326 Neighboring gene STARR-seq mESC enhancer starr_32988 Neighboring gene STARR-seq mESC enhancer starr_32989 Neighboring gene STARR-seq mESC enhancer starr_32990 Neighboring gene STARR-seq mESC enhancer starr_32991 Neighboring gene STARR-seq mESC enhancer starr_32992 Neighboring gene STARR-seq mESC enhancer starr_32993 Neighboring gene predicted gene, 47415 Neighboring gene STARR-seq mESC enhancer starr_32994 Neighboring gene heterogeneous nuclear ribonucleoprotein A/B-like Neighboring gene STARR-positive B cell enhancer ABC_E8497 Neighboring gene STARR-positive B cell enhancer ABC_E8498 Neighboring gene STARR-positive B cell enhancer ABC_E5347 Neighboring gene STARR-positive B cell enhancer ABC_E11519 Neighboring gene G-protein coupled receptor 65 Neighboring gene STARR-positive B cell enhancer mm9_chr12:99698044-99698344 Neighboring gene potassium channel, subfamily K, member 10 Neighboring gene predicted gene, 40893

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy. Lin DS, et al. Cells, 2023 Mar 24. PMID 37048066, Free PMC Article
    2. Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration. Kreher C, et al. PLoS Biol, 2022 Jul. PMID 35789331, Free PMC Article
    3. CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease. Rebiai R, et al. Front Mol Neurosci, 2022. PMID 35620447, Free PMC Article
    4. A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease. Zaccariotto E, et al. Biomed Pharmacother, 2022 May. PMID 35290889
    5. Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor. Babcock MC, et al. Sci Rep, 2021 Jul 14. PMID 34262084, Free PMC Article

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
      Title: Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
    2. Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
      Title: Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
    3. Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
      Title: Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
    4. Data show that transgenic galactocerebrosidase (GALC) activity was mainly localized at the Purkinje cells layer in the cerebellum of the AAV-treated twitcher mice.
      Title: Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.
    5. The results of this study indicated that the greater neurochemical pathology observed in the optic nerve than in the sciatic nerve of beta-gal -/- mice is likely due to the greater glycolipid storage in optic nerve.
      Title: Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.
    6. This study demonistrated that galactosylceramidase Deficiency also casue neuromuscular dysfunction.
      Title: Mechanism of neuromuscular dysfunction in Krabbe disease.
    7. results show that GALCtwi-5J, a spontaneous mutation in murine GALC precisely matches the E130K missense mutation in patients with infantile Krabbe disease
      Title: Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
    8. Insights into the mechanisms underlying galactosylceramidase regulation of early post-natal neurogenic niches improve our understanding of the multi-component pathology of globoid cell leukodystrophy .
      Title: The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
    9. The crystal structures of GALC and the GALC-product complex, revealing a novel domain architecture with a previously uncharacterized lectin domain not observed in other hydrolases, are presented.
      Title: Insights into Krabbe disease from structures of galactocerebrosidase.
    10. Data show that GALC and, possibly, other enzymes for the maintenance of niche functionality and health tightly control the concentration of these sphingolipids within HSPCs.
      Title: The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables galactosylceramidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactosylceramidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables galactosylceramidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables galactosylceramidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in galactosylceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within galactosylceramide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within galactosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in galactosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in galactosylceramide catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    galactocerebrosidase
    Names
    GALCERase
    galactocerebroside beta-galactosidase
    galactosylceramide beta-galactosidase
    NP_032105.2
    XP_006515535.1
    XP_017170449.1
    XP_030102421.1

    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_008079.4 → NP_032105.2  galactocerebrosidase precursor

      See identical proteins and their annotated locations for NP_032105.2

      Status: REVIEWED

      Source sequence(s)
      AC122317, BC065140, BC086671, D38557
      Consensus CDS
      CCDS36517.1
      UniProtKB/Swiss-Prot
      O35151, P54818, Q3U3H7
      Related
      ENSMUSP00000021390.8, ENSMUST00000021390.9
      Conserved Domains (2) summary
      pfam02057
      Location:17 → 684
      Glyco_hydro_59; Glycosyl hydrolase family 59
      cl23815
      Location:32 → 313
      Glyco_hydro_30; O-Glycosyl hydrolase family 30

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      98168543..98226565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246561.2 → XP_030102421.1  galactocerebrosidase isoform X1

      UniProtKB/TrEMBL
      A0A1Y7VM63, Q3TTJ1
      Conserved Domains (2) summary
      pfam02057
      Location:1 → 233
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:241 → 357
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

    2. XM_017314960.3 → XP_017170449.1  galactocerebrosidase isoform X1

      UniProtKB/TrEMBL
      A0A1Y7VM63, Q3TTJ1
      Related
      ENSMUSP00000152540.2, ENSMUST00000221063.2
      Conserved Domains (2) summary
      pfam02057
      Location:1 → 233
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:241 → 357
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

    3. XM_006515472.5 → XP_006515535.1  galactocerebrosidase isoform X2

      Conserved Domains (2) summary
      pfam02057
      Location:55 → 349
      Glyco_hydro_59; Glycosyl hydrolase family 59
      pfam17387
      Location:357 → 418
      Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54818.2 GenPept UniProtKB/Swiss-Prot:P54818

    Gene LinkOut

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

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