Version 5.4
Mus musculus Protein: Galc
Summary
InnateDB Protein IDBP-162138.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Galc
Protein Name galactosylceramidase
Synonyms 2310068B06Rik; A930008M05Rik; AW212969; AW413532; Gacy; twi; twitcher;
Species Mus musculus
Ensembl Protein ENSMUSP00000021390
InnateDB Gene IDBG-162136 (Galc)
Protein Structure
UniProt Annotation
Function Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. {ECO:0000269PubMed:8769874}.
Subcellular Localization Lysosome {ECO:0000250}.
Disease Associations Note=Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin.
Tissue Specificity Detected in brain and kidney. {ECO:0000269PubMed:8769874}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004336 galactosylceramidase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006683 galactosylceramide catabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005764 lysosome
Protein Structure and Domains
PDB ID MGI:95636
InterPro IPR001286 Glycoside hydrolase, family 59
IPR017853 Glycoside hydrolase, superfamily
PFAM PF02057
PRINTS PR00850
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P54818
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 14420
UniGene
RefSeq NP_032105
MGI ID 4CCE
MGI Symbol Galc
OMIM
CCDS CCDS36517
HPRD
IMGT
EMBL AF003870 AF003871 AF003872 AF003873 AF003874 AF003875 AF003876 AF003877 AF003878 AF003879 AF003880 AF003881 AF003882 AF003883 AF003884 AF003885 AF003886 AK154760 BC086671 CH466549 D38557
GenPept AAB71823 AAH86671 BAA07560 BAE32809 EDL18937

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca