Reviewed, UniProtKB/Swiss-Prot P54818 (GALC_MOUSE)

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

10090 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	684 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 + H2O = D-galactose + N-acylsphingosine.
Subcellular location	Lysosome By 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.
Caution	It is uncertain whether Met-1 or Met-17 is the initiator.

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 mitochondrion Inferred from direct assay. 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	1 – 42	42	By similarity
	Chain	43 – 684	642	Galactocerebrosidase		PRO_0000012232
Amino acid modifications
	Glycosylation	300	1	N-linked (GlcNAc...) Potential
	Glycosylation	379	1	N-linked (GlcNAc...) Potential
	Glycosylation	403	1	N-linked (GlcNAc...) Potential
	Glycosylation	558	1	N-linked (GlcNAc...) Potential
	Glycosylation	601	1	N-linked (GlcNAc...) Potential
	Glycosylation	645	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	376	1	G → A in AAB71823. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P54818-1 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: DD4BD45AE898C524	FASTA	684	77,256
	10 20 30 40 50 60 MANSQPKASQ QRQAKVMTAA AGSASRVAVP LLLCALLVPG GAYVLDDSDG LGREFDGIGA 70 80 90 100 110 120 VSGGGATSRL LVNYPEPYRS EILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYE 130 140 150 160 170 180 LDENYFRGYE WWLMKEAKKR NPDIILMGLP WSFPGWLGKG FSWPYVNLQL TAYYVVRWIL 190 200 210 220 230 240 GAKHYHDLDI DYIGIWNERP FDANYIKELR KMLDYQGLQR VRIIASDNLW EPISSSLLLD 250 260 270 280 290 300 QELWKVVDVI GAHYPGTYTV WNAKMSGKKL WSSEDFSTIN SNVGAGCWSR ILNQNYINGN 310 320 330 340 350 360 MTSTIAWNLV ASYYEELPYG RSGLMTAQEP WSGHYVVASP IWVSAHTTQF TQPGWYYLKT 370 380 390 400 410 420 VGHLEKGGSY VALTDGLGNL TIIIETMSHQ HSMCIRPYLP YYNVSHQLAT FTLKGSLREI 430 440 450 460 470 480 QELQVWYTKL GTPQQRLHFK QLDTLWLLDG SGSFTLELEE DEIFTLTTLT TGRKGSYPPP 490 500 510 520 530 540 PSSKPFPTNY KDDFNVEYPL FSEAPNFADQ TGVFEYYMNN EDREHRFTLR QVLNQRPITW 550 560 570 580 590 600 AADASSTISV IGDHHWTNMT VQCDVYIETP RSGGVFIAGR VNKGGILIRS ATGVFFWIFA 610 620 630 640 650 660 NGSYRVTADL GGWITYASGH ADVTAKRWYT LTLGIKGYFA FGMLNGTILW KNVRVKYPGH 670 680 GWAAIGTHTF EFAQFDNFRV EAAR

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 transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: NOD.
[4]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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
EMBLGenBankDDBJ	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.
IPI	IPI00109904.
RefSeq	NP_032105.2.
UniGene	Mm.5120
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P54818.
Protein family/group databases
CAZy	GH59. Glycoside Hydrolase Family 59.
Proteomic databases
PRIDE	P54818.
Genome annotation databases
Ensembl	ENSMUST00000021390; ENSMUSP00000021390; ENSMUSG00000021003; Mus musculus. [Genome view]
GeneID	14420.
KEGG	mmu:14420.
UCSC	uc007olf.1. mouse.
Organism-specific databases
CTD	14420.
MGI	MGI:95636. Galc.
Phylogenomic databases
HOVERGEN	P54818.
Enzyme and pathway databases
BRENDA	3.2.1.46. 244.
Gene expression databases
ArrayExpress	P54818.
Bgee	P54818.
CleanEx	MM_GALC.
Genevestigator	P54818.
GermOnline	ENSMUSG00000021003. Mus musculus.
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...
Other Resources
NextBio	286009.
SOURCE	Search...

Entry information

Entry name

GALC_MOUSE

Accession

Primary (citable) accession number: P54818
Secondary accession number(s): O35151, Q3U3H7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	May 5, 2009
Last modified:	November 3, 2009
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)