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Protein

Galactocerebrosidase

Gene

Galc

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei109Substrate1
Binding sitei151Substrate1
Binding sitei197Substrate1
Active sitei198Proton donor/acceptor1 Publication1
Active sitei274Nucleophile1 Publication1
Binding sitei396Substrate1

GO - Molecular functioni

  • galactosylceramidase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: InterPro
  • galactosylceramide catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi3.2.1.46. 3474.
ReactomeiR-MMU-1660662. Glycosphingolipid metabolism.

Protein family/group databases

CAZyiGH59. Glycoside Hydrolase Family 59.

Chemistry databases

SwissLipidsiSLP:000001418.

Names & Taxonomyi

Protein namesi
Recommended name:
Galactocerebrosidase (EC:3.2.1.46)
Short name:
GALCERase
Alternative name(s):
Galactocerebroside beta-galactosidase
Galactosylceramidase
Galactosylceramide beta-galactosidase
Gene namesi
Name:Galc
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 12

Organism-specific databases

MGIiMGI:95636. Galc.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: MGI
  • lysosome Source: MGI
  • mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & 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

ChEMBLiCHEMBL2218.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 42By similarityAdd BLAST42
ChainiPRO_000001223243 – 684GalactocerebrosidaseAdd BLAST642

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi287 ↔ 3941 Publication
Glycosylationi300N-linked (GlcNAc...)1 Publication1
Glycosylationi379N-linked (GlcNAc...)1 Publication1
Glycosylationi403N-linked (GlcNAc...)1 Publication1
Glycosylationi558N-linked (GlcNAc...)1 Publication1
Glycosylationi601N-linked (GlcNAc...)Sequence analysis1
Glycosylationi645N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP54818.
PaxDbiP54818.
PeptideAtlasiP54818.
PRIDEiP54818.

PTM databases

PhosphoSitePlusiP54818.

Expressioni

Tissue specificityi

Detected in brain and kidney.1 Publication

Gene expression databases

BgeeiENSMUSG00000021003.
CleanExiMM_GALC.
GenevisibleiP54818. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000021390.

Structurei

Secondary structure

1684
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi42 – 45Combined sources4
Beta strandi51 – 54Combined sources4
Beta strandi57 – 62Combined sources6
Turni67 – 73Combined sources7
Helixi78 – 87Combined sources10
Turni89 – 91Combined sources3
Beta strandi96 – 102Combined sources7
Beta strandi105 – 107Combined sources3
Beta strandi109 – 112Combined sources4
Beta strandi127 – 129Combined sources3
Helixi130 – 140Combined sources11
Beta strandi145 – 151Combined sources7
Helixi155 – 158Combined sources4
Helixi168 – 186Combined sources19
Helixi203 – 215Combined sources13
Beta strandi222 – 228Combined sources7
Helixi233 – 239Combined sources7
Helixi241 – 246Combined sources6
Beta strandi249 – 254Combined sources6
Helixi261 – 266Combined sources6
Beta strandi269 – 276Combined sources8
Helixi282 – 299Combined sources18
Beta strandi303 – 307Combined sources5
Beta strandi309 – 311Combined sources3
Turni318 – 321Combined sources4
Beta strandi323 – 326Combined sources4
Turni330 – 332Combined sources3
Helixi340 – 348Combined sources9
Beta strandi356 – 359Combined sources4
Beta strandi369 – 374Combined sources6
Beta strandi376 – 378Combined sources3
Beta strandi380 – 385Combined sources6
Helixi389 – 391Combined sources3
Beta strandi395 – 397Combined sources3
Beta strandi407 – 413Combined sources7
Helixi415 – 417Combined sources3
Beta strandi422 – 429Combined sources8
Beta strandi437 – 446Combined sources10
Beta strandi449 – 451Combined sources3
Beta strandi453 – 458Combined sources6
Beta strandi460 – 468Combined sources9
Beta strandi488 – 492Combined sources5
Beta strandi500 – 503Combined sources4
Beta strandi508 – 512Combined sources5
Beta strandi514 – 518Combined sources5
Beta strandi526 – 531Combined sources6
Beta strandi545 – 552Combined sources8
Beta strandi558 – 567Combined sources10
Turni570 – 572Combined sources3
Beta strandi574 – 581Combined sources8
Helixi585 – 590Combined sources6
Beta strandi592 – 599Combined sources8
Turni600 – 602Combined sources3
Beta strandi603 – 609Combined sources7
Beta strandi614 – 620Combined sources7
Beta strandi628 – 636Combined sources9
Beta strandi639 – 644Combined sources6
Beta strandi647 – 654Combined sources8
Beta strandi662 – 670Combined sources9
Beta strandi673 – 683Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ZR5X-ray2.10A40-684[»]
3ZR6X-ray2.44A40-684[»]
4CCCX-ray2.09A41-684[»]
4CCDX-ray1.97A41-684[»]
4CCEX-ray2.06A41-684[»]
4UFHX-ray2.16A41-684[»]
4UFIX-ray2.40A41-684[»]
4UFJX-ray2.20A41-684[»]
4UFKX-ray2.40A43-684[»]
4UFLX-ray2.40A43-684[»]
4UFMX-ray2.40A43-684[»]
ProteinModelPortaliP54818.
SMRiP54818.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 59 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IITE. Eukaryota.
ENOG410XTIS. LUCA.
GeneTreeiENSGT00390000003303.
HOGENOMiHOG000068033.
HOVERGENiHBG005800.
InParanoidiP54818.
KOiK01202.
OMAiKHSKCIR.
OrthoDBiEOG091G04GY.
PhylomeDBiP54818.
TreeFamiTF312985.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR001286. Glyco_hydro_59.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR15172. PTHR15172. 1 hit.
PfamiPF02057. Glyco_hydro_59. 1 hit.
[Graphical view]
PRINTSiPR00850. GLHYDRLASE59.
SUPFAMiSSF51445. SSF51445. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P54818-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:684
Mass (Da):77,256
Last modified:May 5, 2009 - v2
Checksum:iDD4BD45AE898C524
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti376G → A in AAB71823 (Ref. 2) Curated1

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.
CCDSiCCDS36517.1.
RefSeqiNP_032105.2. NM_008079.4.
UniGeneiMm.5120.

Genome annotation databases

EnsembliENSMUST00000021390; ENSMUSP00000021390; ENSMUSG00000021003.
GeneIDi14420.
KEGGimmu:14420.
UCSCiuc007olf.2. mouse.

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.
CCDSiCCDS36517.1.
RefSeqiNP_032105.2. NM_008079.4.
UniGeneiMm.5120.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ZR5X-ray2.10A40-684[»]
3ZR6X-ray2.44A40-684[»]
4CCCX-ray2.09A41-684[»]
4CCDX-ray1.97A41-684[»]
4CCEX-ray2.06A41-684[»]
4UFHX-ray2.16A41-684[»]
4UFIX-ray2.40A41-684[»]
4UFJX-ray2.20A41-684[»]
4UFKX-ray2.40A43-684[»]
4UFLX-ray2.40A43-684[»]
4UFMX-ray2.40A43-684[»]
ProteinModelPortaliP54818.
SMRiP54818.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000021390.

Chemistry databases

ChEMBLiCHEMBL2218.
SwissLipidsiSLP:000001418.

Protein family/group databases

CAZyiGH59. Glycoside Hydrolase Family 59.

PTM databases

PhosphoSitePlusiP54818.

Proteomic databases

MaxQBiP54818.
PaxDbiP54818.
PeptideAtlasiP54818.
PRIDEiP54818.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000021390; ENSMUSP00000021390; ENSMUSG00000021003.
GeneIDi14420.
KEGGimmu:14420.
UCSCiuc007olf.2. mouse.

Organism-specific databases

CTDi2581.
MGIiMGI:95636. Galc.

Phylogenomic databases

eggNOGiENOG410IITE. Eukaryota.
ENOG410XTIS. LUCA.
GeneTreeiENSGT00390000003303.
HOGENOMiHOG000068033.
HOVERGENiHBG005800.
InParanoidiP54818.
KOiK01202.
OMAiKHSKCIR.
OrthoDBiEOG091G04GY.
PhylomeDBiP54818.
TreeFamiTF312985.

Enzyme and pathway databases

BRENDAi3.2.1.46. 3474.
ReactomeiR-MMU-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

ChiTaRSiGalc. mouse.
PROiP54818.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000021003.
CleanExiMM_GALC.
GenevisibleiP54818. MM.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR001286. Glyco_hydro_59.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR15172. PTHR15172. 1 hit.
PfamiPF02057. Glyco_hydro_59. 1 hit.
[Graphical view]
PRINTSiPR00850. GLHYDRLASE59.
SUPFAMiSSF51445. SSF51445. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiGALC_MOUSE
AccessioniPrimary (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: November 2, 2016
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-17 is the initiator.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.