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Galc galactosylceramidase [ Mus musculus (house mouse) ]

Gene ID: 14420, updated on 12-May-2024

Summary

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
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Genomic context

See Galc in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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_008079.4NP_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:17684
    Glyco_hydro_59; Glycosyl hydrolase family 59
    cl23815
    Location:32313
    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_030246561.2XP_030102421.1  galactocerebrosidase isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VM63, Q3TTJ1
    Conserved Domains (2) summary
    pfam02057
    Location:1233
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:241357
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
  2. XM_017314960.3XP_017170449.1  galactocerebrosidase isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VM63, Q3TTJ1
    Related
    ENSMUSP00000152540.2, ENSMUST00000221063.2
    Conserved Domains (2) summary
    pfam02057
    Location:1233
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:241357
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
  3. XM_006515472.5XP_006515535.1  galactocerebrosidase isoform X2

    Conserved Domains (2) summary
    pfam02057
    Location:55349
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:357418
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain