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Galc
Gene Detail
Symbol

Name
ID
Galc
galactosylceramidase
MGI:95636
Synonyms
2310068B06Rik, A930008M05Rik, Gacy, galactocerebrosidase
Feature Type
protein coding gene
Genetic Map
Chromosome 12
49.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr12:98202304-98259459 bp, - strand
From Ensembl annotation of GRCm38

  57156 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:124  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GALC
Gene Tree: Galc

Human
homologs
GALC, galactosylceramidase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2581
neXtProt AC: NX_P54803

Human Chr (Location): 14q31; chr14:87933014-87993665 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GALC

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Spontaneous(4) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age.
 
Human Diseases Modeled in Mice Using Galc (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Galc interacts with 222 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process carbohydrate metabolic process, galactosylceramide catabolic process, ...
Component extracellular exosome, lysosome, ...
Function galactosylceramidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (101)    Tissues (100)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 7
cDNA source data(52)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase galc ; ZFIN galca, galcb    NEW 
Molecular
reagents
All nucleic(53) cDNA(52) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000021003 (Evidence)
Entrez Gene 14420 (Evidence)
UniGene 5120
DFCI TC1578738, TC1630567, TC1698553
DoTS DT.101198046, DT.101296694, DT.528189, DT.91332366, DT.91584981
NIA Mouse Gene Index U034246
EC 3.2.1.46
PDB 4CCC, 4CCD, 4CCE, 4UFH, 4UFI, 4UFJ, 4UFK, 4UFL, 4UFM, 3ZR5, 3ZR6
Consensus CDS Project CCDS36517.1
International Mouse Phenotyping Consortium Status Galc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021003 Ensembl Gene Model | MGI Sequence Detail 57156 C57BL/6J ±  kb
transcript ENSMUST00000021390 Ensembl | MGI Sequence Detail 3822 Not Applicable 
polypeptide ENSMUSP00000021390 Ensembl | MGI Sequence Detail 684 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(416 from dbSNP Build 137)    SNPs within 2kb including multiple locations(418)
Protein-related
information
ResourceIDDescription
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR001286 Glycoside hydrolase, family 59
InterPro IPR017853 Glycoside hydrolase, superfamily
Protein Ontology PR:000007811 galactocerebrosidase
References
(Earliest) J:6390 Duchen LW, et al., Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain. 1980 Sep;103(3):695-710
(Latest) J:221667 Hawkins-Salsbury JA, et al., Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy. J Neurosci. 2015 Apr 22;35(16):6495-505
All references(129)
Disease annotation references (13)
Other
accession IDs
MGD-MRK-15304, MGD-MRK-9951, MGD-MRK-9962, MGI:1916901, MGI:1925845, MGI:2145017, MGI:2145024

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory