Gene/Proteome Database (LMPD)

LMPD ID
LMP002458
Gene ID
14420
Species
Mus musculus (Mouse)
Gene Name
galactosylceramidase
Gene Symbol
Galc
Synonyms
2310068B06Rik; A930008M05Rik; AW212969; AW413532; Gacy; twi; twitcher
Alternate Names
galactocerebrosidase; GALCERase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase
Chromosome
12
Map Location
12 E|12 49.83 cM
EC Number
3.2.1.46

Proteins

galactocerebrosidase precursor
Refseq ID NP_032105
Protein GI 93102411
UniProt ID P54818
mRNA ID NM_008079
Length 684
RefSeq Status VALIDATED
MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKGFSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGLQRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGHYVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHSMCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDGSGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFADQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVYIETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEAAR
sig_peptide: 1..42 inference: non-experimental evidence, no additional details recorded note: By similarity; propagated from UniProtKB/Swiss-Prot (P54818.2) calculated_mol_wt: 4164 peptide sequence: MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGA mat_peptide: 43..684 product: Galactocerebrosidase experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P54818.2) calculated_mol_wt: 73111 peptide sequence: YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKGFSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGLQRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGHYVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHSMCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDGSGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFADQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVYIETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEAAR

Gene Information

Entrez Gene ID
14420
Gene Name
galactosylceramidase
Gene Symbol
Galc
Species
Mus musculus

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005764 TAS:MGI C lysosome
GO:0005739 IDA:MGI C mitochondrion
GO:0004336 IDA:UniProtKB F galactosylceramidase activity
GO:0005975 IEA:InterPro P carbohydrate metabolic process
GO:0006683 IMP:UniProtKB P galactosylceramide catabolic process

KEGG Pathway Links

KEGG Pathway ID Description
mmu04142 Lysosome
mmu01100 Metabolic pathways
mmu00600 Sphingolipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
5893995 Glycosphingolipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR017853 Glycoside hydrolase superfamily
IPR013781 Glycoside hydrolase, catalytic domain
IPR001286 Glycoside hydrolase, family 59

UniProt Annotations

Entry Information

Gene Name
galactosylceramidase
Protein Entry
GALC_MOUSE
UniProt ID
P54818
Species
Mouse

Comments

Comment Type Description
Catalytic Activity D-galactosyl-N-acylsphingosine + H(2)O = D- galactose + N-acylsphingosine. {ECO:0000269|PubMed:8769874}.
Caution It is uncertain whether Met-1 or Met-17 is the initiator. {ECO:0000305}.
Disease 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.
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:0000269|PubMed:8769874}.
Sequence Caution Sequence=AAB71823.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH86671.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA07560.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity Belongs to the glycosyl hydrolase 59 family. {ECO:0000305}.
Subcellular Location Lysosome {ECO:0000250}.
Tissue Specificity Detected in brain and kidney. {ECO:0000269|PubMed:8769874}.

Identical and Related Proteins

Unique RefSeq proteins for LMP002458 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
93102411 RefSeq NP_032105 684 galactocerebrosidase precursor

Identical Sequences to LMP002458 proteins

Reference Database Accession Length Protein Name
GI:93102411 DBBJ BAE32809.1 684 unnamed protein product [Mus musculus]
GI:93102411 GenBank EDL18937.1 684 galactosylceramidase [Mus musculus]
GI:93102411 SwissProt P54818.2 684 RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor [Mus musculus]

Related Sequences to LMP002458 proteins

Reference Database Accession Length Protein Name
GI:93102411 DBBJ BAA07560.1 668 murine galactocerebrosidase [Mus musculus domesticus]
GI:93102411 GenBank AAB71823.1 668 galactocerebrosidase [Mus musculus]
GI:93102411 GenBank AAH86671.1 668 Galactosylceramidase [Mus musculus]
GI:93102411 PDB 4CCD 654 Chain A, Structure Of Mouse Galactocerebrosidase With D-galactal: Enzyme-intermediate Complex
GI:93102411 PDB 4CCE 654 Chain A, Structure Of Mouse Galactocerebrosidase With Galactose: Enzyme-product Complex
GI:93102411 PRF - 668 galactocerebrosidase [Mus musculus]