Sequence Detail

ID/Version

P54818 O35151 Q3U3H7 (UniProt | EBI)

Last sequence update: 2009-05-05
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=Galactocerebrosidase {ECO:0000305}; Short=GALCERase; EC=3.2.1.46 {ECO:0000269|PubMed:8769874};AltName: Full=Galactocerebroside beta-galactosidase;AltName: Full=Galactosylceramidase {ECO:0000250|UniProtKB:P54803};AltName: Full

Provider

SWISS-PROT

Sequence

Polypeptide 684 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Galc	galactosylceramidase	13	99	4	19

Sequence references in MGI

J:31433 Sakai N, et al., Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J Neurochem. 1996 Mar;66(3):1118-24
J:63197 Tohyama J, et al., Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency). Hum Mol Genet. 2000 Jul 1;9(11):1699-707
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:176449 Deane JE, et al., Insights into Krabbe disease from structures of galactocerebrosidase. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15169-73
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89