Reviewed, UniProtKB/Swiss-Prot Q70KH2 (GLCM_PIG)

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

Sus scrofa (Pig)

Taxonomic identifier

9823 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Laurasiatheria › Cetartiodactyla › Suina › Suidae › Sus

Protein attributes

Sequence length	536 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Inferred from homology.

General annotation (Comments)

Catalytic activity	D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.
Subcellular location	Lysosome membrane; Peripheral membrane protein By similarity.
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
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
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 39	39	By similarity
	Chain	40 – 536	497	Glucosylceramidase		PRO_5000071459
Sites
	Active site	274	1	Proton donor By similarity
	Active site	379	1	Nucleophile By similarity
Amino acid modifications
	Glycosylation	58	1	N-linked (GlcNAc...) Potential
	Glycosylation	98	1	N-linked (GlcNAc...) Potential
	Glycosylation	185	1	N-linked (GlcNAc...) Potential
	Glycosylation	309	1	N-linked (GlcNAc...) Potential
	Glycosylation	501	1	N-linked (GlcNAc...) Potential
	Disulfide bond	43 ↔ 55		By similarity
	Disulfide bond	57 ↔ 62		By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q70KH2-1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 25F24D3D548D0C9E	FASTA	536	59,874
	10 20 30 40 50 60 MELSSPSREE CPRPQGRVGI MAASLMGLLL LQAASWASGA RPCSPKSFGY SSVVCVCNAT 70 80 90 100 110 120 YCDSLDPLTL PDPGTFSRFE STRSGRRMEL SLGTFQANRT SKGLLLTLQP DQKFQKVKGF 130 140 150 160 170 180 GGAMTDAAAL NILALSPQAR NLLLKSYFSE EGIEYNIIRV PMASCDFSIR IYTYADTPDD 190 200 210 220 230 240 FQLLNFSLPE EDVKLKIPLI HQALKMAQRP VSLFASPWTS PTWLKTNGAV NGKGTLKGHP 250 260 270 280 290 300 GDRYHQTWAK YFVKFLDAYA EHNLHFWAVT AENEPSAGLF TGYPFQCLGF TPEHQRDFIA 310 320 330 340 350 360 RDPGPTLANS THRNVRLLML DDQRLLLPHW AQVVLADPEA AKYVHGIAVH WYLDFLAPAK 370 380 390 400 410 420 ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGV QYSHSIITNL LYHVVGWTDW 430 440 450 460 470 480 NLALNPEGGP NWVRNFVDSP IIVDISKDTF YKQPMFYHLG HFSKFIPEGS QRVGLAASEK 490 500 510 520 530 NNLDTVALLR PDGSAVVVVL NRSSKDVPLT IKDPALGFLE TISPSYSIHT YLWHRK

References

[1]

"Comparative and genetic analysis of the porcine glucocerebrosidase (GBA) gene." Stratil A., Wagenknecht D., Van Poucke M., Kubickova S., Bartenschlager H., Musilova P., Rubes J., Geldermann H., Peelman L.J. Comp. Biochem. Physiol. 138B:377-383(2004) [PubMed: 15325338] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ575649 Genomic DNA. Translation: CAE06498.1.
RefSeq	NP_001005730.1.
UniGene	Ssc.45597
3D structure databases
SMR	Q70KH2. Positions 40-536.
ModBase	Search...
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
Genome annotation databases
GeneID	449572.
KEGG	ssc:449572.
Organism-specific databases
CTD	449572.
Phylogenomic databases
HOVERGEN	Q70KH2.
Enzyme and pathway databases
BRENDA	3.2.1.45. 249.
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...

Entry information

Entry name

GLCM_PIG

Accession

Primary (citable) accession number: Q70KH2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 20, 2007
Last sequence update:	July 5, 2004
Last modified:	October 13, 2009
This is version 33 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)