Galactocerebrosidase precursor - Mus musculus (Mouse)

Contribute

Reviewed, UniProtKB/Swiss-Prot P54818 (GALC_MOUSE)

Last modified November 25, 2008. Version 55. History...

Clusters with 100%, 90%, 50% identity |

Documents (3) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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

Mus musculus (Mouse)

Taxonomic identifier

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	668 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 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.
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 Traceable author statement. Source: MGI
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro galactosylceramidase activity Inferred from mutant phenotype. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

26

By similarity

Chain

642

Galactocerebrosidase

PRO_0000012232

Amino acid modifications

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict

1

G → A in AAB71823. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

P54818-1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 3BAD82D9EF7C2842
Show »

668

75,502

        10         20         30         40         50         60 
MTAAAGSASR VAVPLLLCAL LVPGGAYVLD DSDGLGREFD GIGAVSGGGA TSRLLVNYPE 

        70         80         90        100        110        120 
PYRSEILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYELDENYF RGYEWWLMKE 

       130        140        150        160        170        180 
AKKRNPDIIL MGLPWSFPGW LGKGFSWPYV NLQLTAYYVV RWILGAKHYH DLDIDYIGIW 

       190        200        210        220        230        240 
NERPFDANYI KELRKMLDYQ GLQRVRIIAS DNLWEPISSS LLLDQELWKV VDVIGAHYPG 

       250        260        270        280        290        300 
TYTVWNAKMS GKKLWSSEDF STINSNVGAG CWSRILNQNY INGNMTSTIA WNLVASYYEE 

       310        320        330        340        350        360 
LPYGRSGLMT AQEPWSGHYV VASPIWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG 

       370        380        390        400        410        420 
LGNLTIIIET MSHQHSMCIR PYLPYYNVSH QLATFTLKGS LREIQELQVW YTKLGTPQQR 

       430        440        450        460        470        480 
LHFKQLDTLW LLDGSGSFTL ELEEDEIFTL TTLTTGRKGS YPPPPSSKPF PTNYKDDFNV 

       490        500        510        520        530        540 
EYPLFSEAPN FADQTGVFEY YMNNEDREHR FTLRQVLNQR PITWAADASS TISVIGDHHW 

       550        560        570        580        590        600 
TNMTVQCDVY IETPRSGGVF IAGRVNKGGI LIRSATGVFF WIFANGSYRV TADLGGWITY 

       610        620        630        640        650        660 
ASGHADVTAK RWYTLTLGIK GYFAFGMLNG TILWKNVRVK YPGHGWAAIG THTFEFAQFD 


NFRVEAAR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease." Sakai N., Inui K., Tatsumi N., Fukushima H., Nishigaki T., Taniike M., Nishimoto J., Tsukamoto H., Yanagihara I., Ozono K., Okada S. J. Neurochem. 66:1118-1124(1996) [PubMed: 8769874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J. Tissue: Testis.
[2]	"Genomic organization of the mouse galactocerebrosidase (GALC) gene." Luzi P., Victoria T., Wenger D.A. Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: C57BL/6.
+	Additional computationally mapped references.

Cross-references

Sequence databases
	D38557 mRNA. Translation: BAA07560.1. AF003886 AF003885 Genomic DNA. Translation: AAB71823.1. BC086671 mRNA. Translation: AAH86671.1.
RefSeq	NP_032105.2.
UniGene	Mm.5120
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	P54818.
Genome annotation databases
Ensembl	ENSMUSG00000021003. Mus musculus. [Contig view]
GeneID	14420.
KEGG	mmu:14420.
Organism-specific databases
MGI	MGI:95636. Galc.
Phylogenomic databases
HOVERGEN	P54818.
Gene expression databases
ArrayExpress	P54818.
CleanEx	MM_GALC.
GermOnline	ENSMUSG00000021003. Mus musculus.
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...
Other Resources
NextBio	286009.
SOURCE	Search...

Entry information

Entry name

GALC_MOUSE

Accession

Primary (citable) accession number: P54818
Secondary accession number(s): O35151

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	November 25, 2008
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Relevant documents

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents