Reviewed, UniProtKB/Swiss-Prot P54804 (GALC_CANFA)

Names and origin

Protein names

Recommended name:
    Galactocerebrosidase
      Short name=GALCERase
    EC=3.2.1.46
Alternative name(s):
    Galactosylceramidase
    Galactosylceramide beta-galactosidase
    Galactocerebroside beta-galactosidase

Gene names

Name:

GALC

Organism

Canis familiaris (Dog)

Taxonomic identifier

9615 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Laurasiatheria › Carnivora › Caniformia › Canidae › Canis

Protein attributes

Sequence length	669 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

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 By similarity.
Catalytic activity	D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.
Subcellular location	Lysosome By similarity.
Involvement in disease	Defects in GALC are the cause of globoid cell leukodystrophy (GLD). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Ref.1
Sequence similarities	Belongs to the glycosyl hydrolase 59 family.

Ontologies

Keywords
Cellular component	Lysosome
Disease	Disease mutation
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro galactosylceramide catabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro galactosylceramidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	By similarity
	Chain	27 – 669	643	Galactocerebrosidase		PRO_0000012229
Amino acid modifications
	Glycosylation	363	1	N-linked (GlcNAc...) Potential
	Glycosylation	387	1	N-linked (GlcNAc...) Potential
	Glycosylation	543	1	N-linked (GlcNAc...) Potential
	Glycosylation	586	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	158	1	Y → S in GLD. Ref.1
	Natural variant	639	1	P → S in GLD. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P54804-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 60E298B024EE154C	FASTA	669	75,317
	10 20 30 40 50 60 MTAAAGSAGH AAVPLLLCAL LVPGGAYVLD DSDGLGREFD GVGAVSGGGA TSRLLVNYPE 70 80 90 100 110 120 PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENFF RGYEWWLMKE 130 140 150 160 170 180 AKKRNPNIIL MGLPWSFPGW IGKGFNWPYV NLQLTAYYIM TWIVGAKHYH DLDIDYIGIW 190 200 210 220 230 240 NERSFDINYI KVLRRMLNYQ GLDRVKIIAS DNLWEPISAS MLLDSELLKV IDVIGAHYPG 250 260 270 280 290 300 THTVKDAKLT KKKLWSSEDF STLNSDVGAG CLGRILNQNY VNGYMTATIA WNLVASYYEQ 310 320 330 340 350 360 LPYGRCGLMT AQEPWSGHYV VESPIWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG 370 380 390 400 410 420 LGNLTIIVET MSHKQSACIR PFLPYFNVSR QFATFVLKGS FSEIPELQVW YTKLGKPSER 430 440 450 460 470 480 YLFKQLDSLW LLDSSSTFTL ELQEDEIFTL TTLTVGSKGS YPLPPKSEPF PQIYEDDFDV 490 500 510 520 530 540 DYPFFSEAPN FADQTGVFEY FTNIEDPGEH RFTLRQVLNQ RPITWAADAY NTISIIGDYK 550 560 570 580 590 600 WSNLTVRCDV YIETPEKGGV FIAGRVNKGG ILIRSARGIF FWIFANGTYR VTGDLAGWVI 610 620 630 640 650 660 YALGRVDVTA KKWYTLTLII KGRLSSGMLN GKTVWKNIPV SFPKNGWAAI GTHSFEFAQF DNFHVEATR

References

[1]

"Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers." Victoria T., Rafi M.A., Wenger D.A. Genomics 33:457-462(1996) [PubMed: 8661004] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLD SER-158 AND SER-639.

Cross-references

Sequence databases
EMBLGenBankDDBJ	L76184 mRNA. Translation: AAB37752.1.
RefSeq	NP_001003238.1.
UniGene	Cfa.3777
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GH59. Glycoside Hydrolase Family 59.
Genome annotation databases
Ensembl	ENSCAFG00000017337. Canis familiaris. [Contig view]
GeneID	403916.
KEGG	cfa:403916.
Phylogenomic databases
HOVERGEN	P54804.
Enzyme and pathway databases
BRENDA	3.2.1.46. 463.
Family and domain databases
InterPro	IPR001286. Glyco_hydro_59. IPR013781. Glyco_hydro_sg_catalytic. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
PANTHER	PTHR15172. Glyco_hydro_59. 1 hit.
Pfam	PF02057. Glyco_hydro_59. 1 hit. [Graphical view]
PRINTS	PR00850. GLHYDRLASE59.
ProtoNet	Search...

Entry information

Entry name

GALC_CANFA

Accession

Primary (citable) accession number: P54804

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	June 16, 2009
This is version 47 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)