• Gene id: 2581

Gene Summary

• Gene Symbol: GALC   Gene   UCSC   Ensembl
• Gene name: galactosylceramidase
• Alternate names: galactocerebrosidase, GALCERase, galactocerebroside beta-galactosidase, galactosylceramide beta-galactosidase, galactosylceraminidase, testis tissue sperm-binding protein Li 88E, testis tissue sperm-binding protein Li 89A,
• Gene location: 14q31.3 (87993664: 87933013)     Exons: 19     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 606890

Protein Summary

• Protein general information: P54803  
  • Name: Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta galactosidase) (Galactosylceramidase) (Galactosylceramide beta galactosidase)
  • Length: 685  
  • Mass: 77063
  • Tissue specificity: Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO
• Sequence:

  MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYP
  EPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLP
  WSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIA
  SDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
  MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTD
  GLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDS
  DGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGE
  HHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
  ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQ
  FDNFLVEATR

• Structural information:
  • Interpro: IPR013785  IPR001286  IPR035394  IPR017853  
  • STRING: ENSP00000261304
• Other Databases: GeneCards:  GALC  Malacards:  GALC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004336	galactosylceramidase activity	IBA	molecular function
GO:0005764	lysosome	IBA	cellular component
GO:0006683	galactosylceramide catabolic process	IBA	biological process
GO:0004336	galactosylceramidase activity	IDA	molecular function
GO:0004336	galactosylceramidase activity	IDA	molecular function
GO:0006683	galactosylceramide catabolic process	IDA	biological process
GO:0004336	galactosylceramidase activity	ISS	molecular function
GO:0006683	galactosylceramide catabolic process	ISS	biological process
GO:0004336	galactosylceramidase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006683	galactosylceramide catabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0004336	galactosylceramidase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0004336	galactosylceramidase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0042552	myelination	IEA	biological process
GO:0004336	galactosylceramidase activity	IEA	molecular function
GO:0006683	galactosylceramide catabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Sphingolipidosis	KEGG:H00423
Krabbe disease	KEGG:H00135
Sphingolipidosis	KEGG:H00423
Krabbe disease	KEGG:H00135
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)