Homo sapiens Gene: GALC
Summary
InnateDB Gene IDBG-14802.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GALC
Gene Name galactosylceramidase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000054983
Encoded Proteins
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
galactosylceramidase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:87837820-87993665
Strand Reverse strand
Band q31.3
Transcripts
ENST00000261304 ENSP00000261304
ENST00000393569 ENSP00000377199
ENST00000393568 ENSP00000377198
ENST00000477716
ENST00000474294
ENST00000555000 ENSP00000450472
ENST00000544807 ENSP00000437513
ENST00000555179 ENSP00000451480
ENST00000557316 ENSP00000452314
ENST00000557520
ENST00000554916
ENST00000556261
ENST00000554372 ENSP00000451884
ENST00000556879 ENSP00000452208
ENST00000555956
ENST00000622264 ENSP00000480649
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 2 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004336 galactosylceramidase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006683 galactosylceramide catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.513439
RefSeq NM_000153 NM_001201401 NM_001201402
HUGO
OMIM
CCDS CCDS55936 CCDS55937 CCDS9878
HPRD 06057
IMGT
EMBL
GenPept
RNA Seq Atlas