Gene/Proteome Database (LMPD)
LMPD ID
LMP002432
Gene ID
Species
Homo sapiens (Human)
Gene Name
galactosylceramidase
Gene Symbol
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
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
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
UniProt Annotations
Entry Information
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] |