Reviewed, UniProtKB/Swiss-Prot P17439 (GLCM_MOUSE)

Names and origin

Protein names

Recommended name:
    Glucosylceramidase
    EC=3.2.1.45
Alternative name(s):
    Beta-glucocerebrosidase
    Acid beta-glucosidase
    D-glucosyl-N-acylsphingosine glucohydrolase

Gene names

Name:

Gba

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	515 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)

Catalytic activity	D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.
Subcellular location	Lysosome membrane; Peripheral membrane protein.
Sequence similarities	Belongs to the glycosyl hydrolase 30 family.

Ontologies

Keywords
Biological process	Lipid metabolism Sphingolipid metabolism
Cellular component	Lysosome Membrane
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Disulfide bond Glycoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro lysosome organization Inferred from electronic annotation. Source: InterPro sphingolipid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro glucosylceramidase activity Inferred from electronic annotation. Source: EC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SCARB2	Q14108	1	EBI-1564504,EBI-1564650	From a different organism.
Scarb2	O35114	1	EBI-1564504,EBI-1564519

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	By similarity
	Chain	20 – 515	496	Glucosylceramidase		PRO_0000012178
Sites
	Active site	254	1	Proton donor By similarity
	Active site	358	1	Nucleophile By similarity
Amino acid modifications
	Glycosylation	38	1	N-linked (GlcNAc...) Potential
	Glycosylation	78	1	N-linked (GlcNAc...) Potential
	Glycosylation	165	1	N-linked (GlcNAc...) (high mannose) Ref.7
	Glycosylation	289	1	N-linked (GlcNAc...) Ref.8
	Glycosylation	480	1	N-linked (GlcNAc...) Potential
	Disulfide bond	23 ↔ 35		By similarity
	Disulfide bond	37 ↔ 42		By similarity

Sequences

	Sequence		Length	Mass (Da)
	P17439-1 [UniParc]. Last modified August 1, 1990. Version 1. Checksum: 7CCD9176085FE2CB	FASTA	515	57,622
	10 20 30 40 50 60 MAARLIGFFL FQAVSWAYGA QPCIPKSFGY SSVVCVCNAS YCDSLDPVTL PALGTFSRYE 70 80 90 100 110 120 STRRGRRMEL SVGAIQANRT GTGLLLTLQP EKKFQKVKGF GGAMTDATAL NILALSPPTQ 130 140 150 160 170 180 KLLLRSYFST NGIEYNIIRV PMASCDFSIR VYTYADTPND FQLSNFSLPE EDTKLKIPLI 190 200 210 220 230 240 HQALKMSSRP ISLFASPWTS PTWLKTNGRV NGKGSLKGQP GDIFHQTWAN YFVKFLDAYA 250 260 270 280 290 300 KYGLRFWAVT AENEPTAGLF TGYPFQCLGF TPEHQRDFIS RDLGPALANS SHDVKLLMLD 310 320 330 340 350 360 DQRLLLPRWA EVVLSDPEAA KYVHGIAVHW YMDFLAPAKA TLGETHRLFP NTMLFASEAC 370 380 390 400 410 420 VGSKFWEQSV RLGSWDRGMQ YSHSIITNLL YHVTGWTDWN LALNPEGGPN WVRNFVDSPI 430 440 450 460 470 480 IVDIPKDAFY KQPMFYHLGH FSKFIPEGSQ RVALVASEST DLETVALLRP DGSAVVVVLN 490 500 510 RSSEDVPLTI SDPDLGFLET VSPGYSIHTY LWRRQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences." O'Neill R.R., Tokoru T., Kozak C.A., Brady R.O. Proc. Natl. Acad. Sci. U.S.A. 86:5049-5053(1989) [PubMed: 2740343] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Comparative sequence analysis of the mouse and human GBA locus." Sinclair G., Wilson M.D., McKinnel L., Koop B.F., Choy F.Y.M. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Strain: 129/SvJ.
[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: C57BL/6J.
[4]	"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: FVB/N. Tissue: Mammary gland.
[5]	"Molecular and functional characterization of the murine glucocerebrosidase gene." Carstea E.D., Murray G.J., O'Neill R.R. Biochem. Biophys. Res. Commun. 184:1477-1483(1992) [PubMed: 1317175] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-18. Strain: BALB/c.
[6]	Lubec G., Sunyer B., Chen W.-Q. Submitted (JAN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 210-217, MASS SPECTROMETRY. Strain: OF1. Tissue: Hippocampus.
[7]	"High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermis." Uematsu R., Furukawa J., Nakagawa H., Shinohara Y., Deguchi K., Monde K., Nishimura S. Mol. Cell. Proteomics 4:1977-1989(2005) [PubMed: 16170054] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-165, MASS SPECTROMETRY. Tissue: Epidermis.
[8]	"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed: 19349973] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-289, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	M24119 mRNA. Translation: AAA37671.1. AY115108 Genomic DNA. Translation: AAM66757.1. AK082767 mRNA. Translation: BAC38609.1. BC006663 mRNA. Translation: AAH06663.1. M89949 Genomic DNA. Translation: AAA37665.1.
IPI	IPI00108811.
PIR	A32931.
RefSeq	NP_001070879.1. NP_032120.1.
UniGene	Mm.5031
3D structure databases
SMR	P17439. Positions 20-515.
ModBase	Search...
Protein-protein interaction databases
IntAct	P17439. 3 interactions.
STRING	P17439.
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
PTM databases
PhosphoSite	P17439.
Proteomic databases
PRIDE	P17439.
Genome annotation databases
Ensembl	ENSMUST00000077367; ENSMUSP00000076589; ENSMUSG00000028048; Mus musculus. [Genome view]
GeneID	14466.
KEGG	mmu:14466.
UCSC	uc008pyb.1. mouse.
Organism-specific databases
CTD	14466.
MGI	MGI:95665. Gba.
Phylogenomic databases
HOGENOM	P17439.
HOVERGEN	P17439.
OMA	NIKSEIW.
Enzyme and pathway databases
BRENDA	3.2.1.45. 244.
Gene expression databases
ArrayExpress	P17439.
Bgee	P17439.
CleanEx	MM_GBA.
Genevestigator	P17439.
GermOnline	ENSMUSG00000028048. Mus musculus.
Family and domain databases
InterPro	IPR001139. Glyco_hydro_30. IPR013781. Glyco_hydro_sg_catalytic. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
PANTHER	PTHR11069. Glyco_hydro_30. 1 hit.
Pfam	PF02055. Glyco_hydro_30. 1 hit. [Graphical view]
PRINTS	PR00843. GLHYDRLASE30.
ProtoNet	Search...
Other Resources
NextBio	286116.
SOURCE	Search...

Entry information

Entry name

GLCM_MOUSE

Accession

Primary (citable) accession number: P17439
Secondary accession number(s): Q78NR7

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
Last sequence update:	August 1, 1990
Last modified:	November 3, 2009
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)