Gene/Proteome Database (LMPD)

LMPD ID
LMP002432
Gene ID
2581
Species
Homo sapiens (Human)
Gene Name
galactosylceramidase
Gene Symbol
GALC
Synonyms
-
Chromosome
14
Map Location
14q31
EC Number
3.2.1.46
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]
Orthologs
View orthologs and multiple alignments for GALC

Proteins

galactocerebrosidase isoform a precursor
Refseq ID NP_000144
Protein GI 83281450
UniProt ID P54803
mRNA ID NM_000153
Length 685
RefSeq Status REVIEWED
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
galactocerebrosidase isoform c precursor
Refseq ID NP_001188330
Protein GI 83281450
UniProt ID P54803
mRNA ID NM_001201401
Length 685
RefSeq Status REVIEWED
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
galactocerebrosidase isoform d
Refseq ID NP_001188331
Protein GI 83281450
UniProt ID P54803
mRNA ID NM_001201402
Length 685
RefSeq Status REVIEWED
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
sig_peptide: 1..42 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 4210 peptide sequence: MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGA mat_peptide: 43..685 product: Galactocerebrosidase experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P54803.2) calculated_mol_wt: 72872 peptide sequence: YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR sig_peptide: 1..42 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 4210 peptide sequence: MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGA mat_peptide: 43..662 product: galactocerebrosidase isoform c calculated_mol_wt: 70103 peptide sequence: YVLDDSDGLGREFDGIGAVSGGGPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR

Gene Information

Entrez Gene ID
2581
Gene Name
galactosylceramidase
Gene Symbol
GALC
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0043202 TAS:Reactome C lysosomal lumen
GO:0005764 TAS:ProtInc C lysosome
GO:0004336 ISS:UniProtKB F galactosylceramidase activity
GO:0005975 IEA:InterPro P carbohydrate metabolic process
GO:0006683 ISS:UniProtKB P galactosylceramide catabolic process
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome
hsa01100 Metabolic pathways
hsa00600 Sphingolipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116105 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_HUMAN
UniProt ID
P54803
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P54803-1; Sequence=Displayed; Name=3; IsoId=P54803-3; Sequence=VSP_036976; Note=No experimental confirmation available.; Name=4; IsoId=P54803-4; Sequence=VSP_036974; Note=Ref.3 (BAG64110) sequence is in conflict in position: 17:A->T. ; Name=5; IsoId=P54803-5; Sequence=VSP_036975, VSP_036977; Note=No experimental confirmation available.;
Biophysicochemical Properties pH dependence: Optimum pH is 4.0-4.4.; Temperature dependence: Activity is lost after heating at 52 degrees Celsius for five minutes.;
Catalytic Activity D-galactosyl-N-acylsphingosine + H(2)O = D- galactose + N-acylsphingosine. {ECO
Caution It is uncertain whether Met-1 or Met-17 is the initiator.
Disease Leukodystrophy, globoid cell (GLD) [MIM
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
Polymorphism Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.
Sequence Caution Sequence=AAA16645.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAA80975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAH36518.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04971.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04972.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence= ; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAG59160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Belongs to the glycosyl hydrolase 59 family.
Subcellular Location Lysosome.
Tissue Specificity Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.

Identical and Related Proteins

Unique RefSeq proteins for LMP002432 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
83281450 RefSeq NP_000144 685 galactocerebrosidase isoform a precursor
83281450 RefSeq NP_001188330 685 galactocerebrosidase isoform c precursor
83281450 RefSeq NP_001188331 685 galactocerebrosidase isoform d

Identical Sequences to LMP002432 proteins

Reference Database Accession Length Protein Name
GI:83281450 GenBank AFO05787.1 685 Sequence 425 from patent US 8216786
GI:83281450 GenBank AFO05787.1 685 Sequence 425 from patent US 8216786
GI:83281450 GenBank AFO05787.1 685 Sequence 425 from patent US 8216786

Related Sequences to LMP002432 proteins

Reference Database Accession Length Protein Name
GI:83281450 GenBank EAW81361.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank EAW81361.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank EAW81361.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank EAW81362.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank EAW81362.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank EAW81362.1 685 galactosylceramidase, isoform CRA_c [Homo sapiens]
GI:83281450 GenBank JAA24416.1 685 galactosylceramidase [Pan troglodytes]
GI:83281450 GenBank JAA24416.1 685 galactosylceramidase [Pan troglodytes]
GI:83281450 GenBank JAA24416.1 685 galactosylceramidase [Pan troglodytes]
GI:83281450 RefSeq XP_003832784.1 685 PREDICTED: galactocerebrosidase isoform X1 [Pan paniscus]
GI:83281450 RefSeq XP_003832784.1 685 PREDICTED: galactocerebrosidase isoform X1 [Pan paniscus]
GI:83281450 RefSeq XP_003832784.1 685 PREDICTED: galactocerebrosidase isoform X1 [Pan paniscus]
GI:83281450 RefSeq XP_001136291.2 685 PREDICTED: galactocerebrosidase [Pan troglodytes]
GI:83281450 RefSeq XP_001136291.2 685 PREDICTED: galactocerebrosidase [Pan troglodytes]
GI:83281450 RefSeq XP_001136291.2 685 PREDICTED: galactocerebrosidase [Pan troglodytes]
GI:83281450 SwissProt P54803.2 685 RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor [Homo sapiens]
GI:83281450 SwissProt P54803.2 685 RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor [Homo sapiens]
GI:83281450 SwissProt P54803.2 685 RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor [Homo sapiens]