Reviewed, UniProtKB/Swiss-Prot O02791 (GALC_MACMU)

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

Macaca mulatta (Rhesus macaque)

Taxonomic identifier

9544 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Cercopithecidae › Cercopithecinae › Macaca

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 transcript 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 + H(2)O = D-galactose + N-acylsphingosine.
Subcellular location	LysosomeBy similarity.
Involvement in disease	Defects in GALC are the cause of globoid cell leukodystrophy (GLD); also known as Krabbe disease. This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin.
Sequence similarities	Belongs to the glycosyl hydrolase 59 family.

Ontologies

Keywords
Cellular component	Lysosome
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-KW
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro galactosylceramidase activity Inferred from electronic annotation. Source: InterPro
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 – 668	642	Galactocerebrosidase		PRO_0000012231
Amino acid modifications
	Glycosylation	127	1	N-linked (GlcNAc...) Potential
	Glycosylation	363	1	N-linked (GlcNAc...) Potential
	Glycosylation	387	1	N-linked (GlcNAc...) Potential
	Glycosylation	435	1	N-linked (GlcNAc...) Potential
	Glycosylation	540	1	N-linked (GlcNAc...) Potential
	Glycosylation	543	1	N-linked (GlcNAc...) Potential
	Glycosylation	586	1	N-linked (GlcNAc...) Potential

Sequences

	Sequence		Length	Mass (Da)
	O02791-1 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: F09169EDC2B66C07	FASTA	669	75,206
	10 20 30 40 50 60 MTAAAGSAGR AAVPFLLCAL LAPGGAYVLD DSDGLGREFD GIGAVSGGGA TSRLLVNYPE 70 80 90 100 110 120 PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENYF RGYEWWLMKE 130 140 150 160 170 180 AKKRNPNITL IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV TWIVGAKRYH DLDIDYIGIW 190 200 210 220 230 240 NERSYNANYI KILRKMLNSQ GLQRVKIIAS DNLWESISAA MLLDAELFKV VDVIGAHYPG 250 260 270 280 290 300 THSVKDARLT GKKLWSSEDF STLNSDTGAG CWGRILNQNY VNGYMTSTIA WNLVASYYEQ 310 320 330 340 350 360 LPYGRCGLMT AQEPWSGHYV VESPVWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG 370 380 390 400 410 420 LGNLTIIIET MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS FSEIPELQVW YTKLGKTSER 430 440 450 460 470 480 FLFKQLDSLW LLDSNGSFTL KLQEDELFTL TTLTTGRKGS YLPPPKSQRF PSTYKDDFNV 490 500 510 520 530 540 DYPFFSEAPN FADQTGVFEY FTNMEDPGEH HFTLRQVLNQ RPITWAADAS NTISIIGDYN 550 560 570 580 590 600 WTNLTIKCDV YIETPDTGGV FIAGRVNKGG ILIRSARGIF FWIFANGSYR VTGDLAGWII 610 620 630 640 650 660 YALGHVEVTA KTWYTLTLTI KGRFASGMLN DKSLWTDIPV NFPKNGWAAI GTHSFEFAQF DNFHVEATR

References

[1]

"Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate." Luzi P., Rafi M.A., Victoria T., Baskin G.B., Wenger D.A. Genomics 42:319-324(1997) [PubMed: 9192853] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	U87477 , U87462, U87463, U87464, U87465, U87466, U87467, U87468, U87469, U87470, U87471, U87472, U87473, U87474, U87475, U87476 Genomic DNA. Translation: AAB58575.1. U87628 mRNA. Translation: AAB58576.1.
RefSeq	NP_001037727.1.
UniGene	Mmu.3412
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSMMUG00000017261. Macaca mulatta. [Contig view]
GeneID	693322.
KEGG	mcc:693322.
Phylogenomic databases
HOVERGEN	O02791.
Family and domain databases
InterPro	IPR001286. Glyco_hydro_59. IPR013781. Glyco_hydro_sub_cat. [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_MACMU

Accession

Primary (citable) accession number: O02791

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	July 1, 1997
Last modified:	November 25, 2008
This is version 46 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)