Identification |
HMDB Protein ID
| CDBP00309 |
Secondary Accession Numbers
| Not Available |
Name
| Galactocerebrosidase |
Description
| Not Available |
Synonyms
|
- GALCERase
- Galactocerebroside beta-galactosidase
- Galactosylceramidase
- Galactosylceramide beta-galactosidase
|
Gene Name
| GALC |
Protein Type
| Enzyme |
Biological Properties |
General Function
| Involved in galactosylceramidase activity |
Specific 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.
|
GO Classification
|
Biological Process |
glycosphingolipid metabolic process |
small molecule metabolic process |
phospholipid metabolic process |
galactosylceramide catabolic process |
carbohydrate metabolic process |
Cellular Component |
mitochondrion |
lysosomal lumen |
Function |
ion binding |
cation binding |
binding |
catalytic activity |
hydrolase activity |
hydrolase activity, acting on glycosyl bonds |
hydrolase activity, hydrolyzing o-glycosyl compounds |
galactosylceramidase activity |
Molecular Function |
cation binding |
galactosylceramidase activity |
Process |
glycosylceramide metabolic process |
galactosylceramide metabolic process |
galactosylceramide catabolic process |
primary metabolic process |
carbohydrate metabolic process |
lipid metabolic process |
cellular lipid metabolic process |
metabolic process |
membrane lipid metabolic process |
glycolipid metabolic process |
|
Cellular Location
|
- Lysosome
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | Lysosome | Not Available | | Sphingolipid Metabolism | | | Gaucher Disease | | Not Available | Globoid Cell Leukodystrophy | | Not Available | Metachromatic Leukodystrophy (MLD) | | Not Available |
|
Gene Properties |
Chromosome Location
| 14 |
Locus
| 14q31 |
SNPs
| GALC |
Gene Sequence
|
>2058 bp
ATGGCTGAGTGGCTACTCTCGGCTTCCTGGCAACGCCGAGCGAAAGCTATGACTGCGGCC
GCGGGTTCGGCGGGCCGCGCCGCGGTGCCCTTGCTGCTGTGTGCGCTGCTGGCGCCCGGC
GGCGCGTACGTGCTCGACGACTCCGACGGGCTGGGCCGGGAGTTCGACGGCATCGGCGCG
GTCAGCGGCGGCGGGGCAACCTCCCGACTTCTAGTAAATTACCCAGAGCCCTATCGTTCT
CAGATATTGGATTATCTCTTTAAGCCGAATTTTGGTGCCTCTTTGCATATTTTAAAAGTG
GAAATAGGTGGTGATGGGCAGACAACAGACGGCACTGAGCCCTCCCACATGCATTATGCA
CTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAGCTAAGAAGAGG
AATCCCAATATTACACTCATTGGGTTGCCATGGTCATTCCCTGGATGGCTGGGAAAAGGT
TTCGACTGGCCTTATGTCAATCTTCAGCTGACTGCCTATTATGTCGTGACCTGGATTGTG
GGCGCCAAGCGTTACCATGATTTGGACATTGATTATATTGGAATTTGGAATGAGAGGTCA
TATAATGCCAATTATATTAAGATATTAAGAAAAATGCTGAATTATCAAGGTCTCCAGCGA
GTGAAAATCATAGCAAGTGATAATCTCTGGGAGTCCATCTCTGCATCCATGCTCCTTGAT
GCCGAACTCTTCAAGGTGGTTGATGTTATAGGGGCTCATTATCCTGGAACCCATTCAGCA
AAAGATGCAAAGTTGACTGGGAAGAAGCTTTGGTCTTCTGAAGACTTTAGCACTTTAAAT
AGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTATATCAATGGCTAT
ATGACTTCCACAATCGCATGGAATTTAGTGGCTAGTTACTATGAACAGTTGCCTTATGGG
AGATGCGGGTTGATGACGGCCCAGGAGCCATGGAGTGGGCACTACGTGGTAGAATCTCCT
GTCTGGGTATCAGCTCATACCACTCAGTTTACTCAACCTGGCTGGTATTACCTGAAGACA
GTTGGCCATTTAGAGAAAGGAGGAAGCTACGTAGCTCTGACTGATGGCTTAGGGAACCTC
ACCATCATCATTGAAACCATGAGTCATAAACATTCTAAGTGCATACGGCCATTTCTTCCT
TATTTCAATGTGTCACAACAATTTGCCACCTTTGTTCTTAAGGGATCTTTTAGTGAAATA
CCAGAGCTACAGGTATGGTATACCAAACTTGGAAAAACATCCGAAAGATTTCTTTTTAAG
CAGCTGGATTCTCTATGGCTCCTTGACAGCGATGGCAGTTTCACACTGAGCCTGCATGAA
GATGAGCTGTTCACACTCACCACTCTCACCACTGGTCGCAAAGGCAGCTACCCGCTTCCT
CCAAAATCCCAGCCCTTCCCAAGTACCTATAAGGATGATTTCAATGTTGATTACCCATTT
TTTAGTGAAGCTCCAAACTTTGCTGATCAAACTGGTGTATTTGAATATTTTACAAATATT
GAAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCATTACG
TGGGCTGCCGATGCATCCAACACAATCAGTATTATAGGAGACTACAACTGGACCAATCTG
ACTATAAAGTGTGATGTATACATAGAGACCCCTGACACAGGAGGTGTGTTCATTGCAGGA
AGAGTAAATAAAGGTGGTATTTTGATTAGAAGTGCCAGAGGAATTTTCTTCTGGATTTTT
GCAAATGGATCTTACAGGGTTACAGGTGATTTAGCTGGATGGATTATATATGCTTTAGGA
CGTGTTGAAGTTACAGCAAAAAAATGGTATACACTCACGTTAACTATTAAGGGTCATTTC
ACCTCTGGCATGCTGAATGACAAGTCTCTGTGGACAGACATCCCTGTGAATTTTCCAAAG
AATGGCTGGGCTGCAATTGGAACTCACTCCTTTGAATTTGCACAGTTTGACAACTTTCTT
GTGGAAGCCACACGCTAA
|
Protein Properties |
Number of Residues
| 685 |
Molecular Weight
| 77062.86 |
Theoretical pI
| 6.636 |
Pfam Domain Function
|
|
Signals
|
Not Available
|
Transmembrane Regions
|
Not Available
|
Protein Sequence
|
>Galactocerebrosidase
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV
GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT
VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT
WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFASGMLNDKSLWTDIPVNFPK
NGWAAIGTHSFEFAQFDNFLVEATR
|
External Links |
GenBank ID Protein
| 83281450 |
UniProtKB/Swiss-Prot ID
| P54803 |
UniProtKB/Swiss-Prot Entry Name
| GALC_HUMAN |
PDB IDs
|
Not Available |
GenBank Gene ID
| NM_000153.2 |
GeneCard ID
| GALC |
GenAtlas ID
| GALC |
HGNC ID
| HGNC:4115 |
References |
General References
| Not Available |