UniProtKB - P54818 (GALC_MOUSE)
Protein
Galactocerebrosidase
Gene
Galc
Organism
Mus musculus (Mouse)
Status
Functioni
Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8769874, PubMed:10861297). 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 (By similarity).By similarity2 Publications
Caution
It is uncertain whether Met-1 or Met-17 is the initiator.Curated
Catalytic activityi
- a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose1 PublicationEC:3.2.1.461 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forwardBy similarity direction.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 109 | Substrate | 1 | |
Binding sitei | 151 | Substrate | 1 | |
Binding sitei | 197 | Substrate | 1 | |
Active sitei | 198 | Proton donor/acceptor1 Publication | 1 | |
Active sitei | 274 | Nucleophile1 Publication | 1 | |
Binding sitei | 396 | Substrate | 1 |
GO - Molecular functioni
- galactosylceramidase activity Source: UniProtKB
GO - Biological processi
- galactosylceramide catabolic process Source: MGI
- myelination Source: MGI
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Biological process | Lipid degradation, Lipid metabolism, Sphingolipid metabolism |
Enzyme and pathway databases
BRENDAi | 3.2.1.46, 3474 |
Reactomei | R-MMU-1660662, Glycosphingolipid metabolism |
Protein family/group databases
CAZyi | GH59, Glycoside Hydrolase Family 59 |
Chemistry databases
SwissLipidsi | SLP:000001418 |
Names & Taxonomyi
Protein namesi | Recommended name: GalactocerebrosidaseCurated (EC:3.2.1.461 Publication)Short name: GALCERase Alternative name(s): Galactocerebroside beta-galactosidase GalactosylceramidaseBy similarity Galactosylceramide beta-galactosidase |
Gene namesi | Name:GalcImported |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:95636, Galc |
Subcellular locationi
Lysosome
- Lysosome By similarity
Lysosome
- lysosome Source: GO_Central
Mitochondrion
- mitochondrion Source: MGI
Keywords - Cellular componenti
LysosomePathology & Biotechi
Involvement in diseasei
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.
Chemistry databases
ChEMBLi | CHEMBL2218 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 42 | By similarityAdd BLAST | 42 | |
ChainiPRO_0000012232 | 43 – 684 | GalactocerebrosidaseAdd BLAST | 642 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 287 ↔ 394 | 1 Publication | ||
Glycosylationi | 300 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 379 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 403 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 558 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 601 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 645 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | P54818 |
MaxQBi | P54818 |
PaxDbi | P54818 |
PeptideAtlasi | P54818 |
PRIDEi | P54818 |
PTM databases
GlyGeni | P54818, 6 sites |
iPTMneti | P54818 |
PhosphoSitePlusi | P54818 |
Expressioni
Tissue specificityi
Detected in brain and kidney.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000021003, Expressed in cortex of kidney and 265 other tissues |
ExpressionAtlasi | P54818, baseline and differential |
Genevisiblei | P54818, MM |
Interactioni
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000021390 |
Miscellaneous databases
RNActi | P54818, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P54818 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyl hydrolase 59 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502QQ1Q, Eukaryota |
GeneTreei | ENSGT00390000003303 |
HOGENOMi | CLU_015456_2_0_1 |
InParanoidi | P54818 |
OMAi | IWNERPF |
OrthoDBi | 364933at2759 |
PhylomeDBi | P54818 |
TreeFami | TF312985 |
Family and domain databases
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR001286, Glyco_hydro_59 IPR035394, Glyco_hydro_59_dom IPR017853, Glycoside_hydrolase_SF |
PANTHERi | PTHR15172, PTHR15172, 1 hit |
Pfami | View protein in Pfam PF02057, Glyco_hydro_59, 1 hit PF17387, Glyco_hydro_59M, 1 hit |
PRINTSi | PR00850, GLHYDRLASE59 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P54818-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MANSQPKASQ QRQAKVMTAA AGSASRVAVP LLLCALLVPG GAYVLDDSDG
60 70 80 90 100
LGREFDGIGA VSGGGATSRL LVNYPEPYRS EILDYLFKPN FGASLHILKV
110 120 130 140 150
EIGGDGQTTD GTEPSHMHYE LDENYFRGYE WWLMKEAKKR NPDIILMGLP
160 170 180 190 200
WSFPGWLGKG FSWPYVNLQL TAYYVVRWIL GAKHYHDLDI DYIGIWNERP
210 220 230 240 250
FDANYIKELR KMLDYQGLQR VRIIASDNLW EPISSSLLLD QELWKVVDVI
260 270 280 290 300
GAHYPGTYTV WNAKMSGKKL WSSEDFSTIN SNVGAGCWSR ILNQNYINGN
310 320 330 340 350
MTSTIAWNLV ASYYEELPYG RSGLMTAQEP WSGHYVVASP IWVSAHTTQF
360 370 380 390 400
TQPGWYYLKT VGHLEKGGSY VALTDGLGNL TIIIETMSHQ HSMCIRPYLP
410 420 430 440 450
YYNVSHQLAT FTLKGSLREI QELQVWYTKL GTPQQRLHFK QLDTLWLLDG
460 470 480 490 500
SGSFTLELEE DEIFTLTTLT TGRKGSYPPP PSSKPFPTNY KDDFNVEYPL
510 520 530 540 550
FSEAPNFADQ TGVFEYYMNN EDREHRFTLR QVLNQRPITW AADASSTISV
560 570 580 590 600
IGDHHWTNMT VQCDVYIETP RSGGVFIAGR VNKGGILIRS ATGVFFWIFA
610 620 630 640 650
NGSYRVTADL GGWITYASGH ADVTAKRWYT LTLGIKGYFA FGMLNGTILW
660 670 680
KNVRVKYPGH GWAAIGTHTF EFAQFDNFRV EAAR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A1Y7VM63 | A0A1Y7VM63_MOUSE | Galactocerebrosidase | Galc | 491 | Annotation score: |
Sequence cautioni
The sequence AAB71823 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH86671 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA07560 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 376 | G → A in AAB71823 (Ref. 2) Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D38557 mRNA Translation: BAA07560.1 Different initiation. AF003886 , AF003870, AF003871, AF003872, AF003873, AF003874, AF003875, AF003876, AF003877, AF003878, AF003879, AF003880, AF003881, AF003882, AF003883, AF003884, AF003885 Genomic DNA Translation: AAB71823.1 Different initiation. AK154760 mRNA Translation: BAE32809.1 CH466549 Genomic DNA Translation: EDL18937.1 BC086671 mRNA Translation: AAH86671.1 Different initiation. |
CCDSi | CCDS36517.1 |
RefSeqi | NP_032105.2, NM_008079.4 |
Genome annotation databases
Ensembli | ENSMUST00000021390; ENSMUSP00000021390; ENSMUSG00000021003 |
GeneIDi | 14420 |
KEGGi | mmu:14420 |
UCSCi | uc007olf.2, mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D38557 mRNA Translation: BAA07560.1 Different initiation. AF003886 , AF003870, AF003871, AF003872, AF003873, AF003874, AF003875, AF003876, AF003877, AF003878, AF003879, AF003880, AF003881, AF003882, AF003883, AF003884, AF003885 Genomic DNA Translation: AAB71823.1 Different initiation. AK154760 mRNA Translation: BAE32809.1 CH466549 Genomic DNA Translation: EDL18937.1 BC086671 mRNA Translation: AAH86671.1 Different initiation. |
CCDSi | CCDS36517.1 |
RefSeqi | NP_032105.2, NM_008079.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3ZR5 | X-ray | 2.10 | A | 40-684 | [»] | |
3ZR6 | X-ray | 2.44 | A | 40-684 | [»] | |
4CCC | X-ray | 2.09 | A | 41-684 | [»] | |
4CCD | X-ray | 1.97 | A | 41-684 | [»] | |
4CCE | X-ray | 2.06 | A | 41-684 | [»] | |
4UFH | X-ray | 2.16 | A | 41-684 | [»] | |
4UFI | X-ray | 2.40 | A | 41-684 | [»] | |
4UFJ | X-ray | 2.20 | A | 41-684 | [»] | |
4UFK | X-ray | 2.40 | A | 43-684 | [»] | |
4UFL | X-ray | 2.40 | A | 43-684 | [»] | |
4UFM | X-ray | 2.40 | A | 43-684 | [»] | |
5NXB | X-ray | 3.60 | A/B | 41-684 | [»] | |
SMRi | P54818 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000021390 |
Chemistry databases
ChEMBLi | CHEMBL2218 |
SwissLipidsi | SLP:000001418 |
Protein family/group databases
CAZyi | GH59, Glycoside Hydrolase Family 59 |
PTM databases
GlyGeni | P54818, 6 sites |
iPTMneti | P54818 |
PhosphoSitePlusi | P54818 |
Proteomic databases
EPDi | P54818 |
MaxQBi | P54818 |
PaxDbi | P54818 |
PeptideAtlasi | P54818 |
PRIDEi | P54818 |
Protocols and materials databases
Antibodypediai | 26266, 219 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000021390; ENSMUSP00000021390; ENSMUSG00000021003 |
GeneIDi | 14420 |
KEGGi | mmu:14420 |
UCSCi | uc007olf.2, mouse |
Organism-specific databases
CTDi | 2581 |
MGIi | MGI:95636, Galc |
Phylogenomic databases
eggNOGi | ENOG502QQ1Q, Eukaryota |
GeneTreei | ENSGT00390000003303 |
HOGENOMi | CLU_015456_2_0_1 |
InParanoidi | P54818 |
OMAi | IWNERPF |
OrthoDBi | 364933at2759 |
PhylomeDBi | P54818 |
TreeFami | TF312985 |
Enzyme and pathway databases
BRENDAi | 3.2.1.46, 3474 |
Reactomei | R-MMU-1660662, Glycosphingolipid metabolism |
Miscellaneous databases
BioGRID-ORCSi | 14420, 0 hits in 17 CRISPR screens |
ChiTaRSi | Galc, mouse |
PROi | PR:P54818 |
RNActi | P54818, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000021003, Expressed in cortex of kidney and 265 other tissues |
ExpressionAtlasi | P54818, baseline and differential |
Genevisiblei | P54818, MM |
Family and domain databases
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR001286, Glyco_hydro_59 IPR035394, Glyco_hydro_59_dom IPR017853, Glycoside_hydrolase_SF |
PANTHERi | PTHR15172, PTHR15172, 1 hit |
Pfami | View protein in Pfam PF02057, Glyco_hydro_59, 1 hit PF17387, Glyco_hydro_59M, 1 hit |
PRINTSi | PR00850, GLHYDRLASE59 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GALC_MOUSE | |
Accessioni | P54818Primary (citable) accession number: P54818 Secondary accession number(s): O35151, Q3U3H7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | May 5, 2009 | |
Last modified: | February 10, 2021 | |
This is version 148 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families