Q70KH2 (GLCM_PIG) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glucosylceramidase
EC=3.2.1.45

Alternative name(s):
Acid beta-glucosidase
Beta-glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase

Gene names

Name:

GBA

Organism

Sus scrofa (Pig) [Reference proteome]

Taxonomic identifier

9823 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › 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.
Subunit structure	Interacts with SCARB2 By similarity.
Subcellular location	Lysosome membrane; Peripheral membrane protein By similarity. Note: Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro sphingolipid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	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 [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ575649 Genomic DNA. Translation: CAE06498.1.
RefSeq	NP_001005730.1. NM_001005730.1.
UniGene	Ssc.45597.
3D structure databases
ProteinModelPortal	Q70KH2.
SMR	Q70KH2. Positions 40-536.
ModBase	Search...
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	449572.
KEGG	ssc:449572.
Organism-specific databases
CTD	2629.
Phylogenomic databases
eggNOG	COG5520.
HOGENOM	HOG000270031.
HOVERGEN	HBG002285.
KO	K01201.
OrthoDB	EOG43XV3S.
Enzyme and pathway databases
BRENDA	3.2.1.45. 6170.
Family and domain databases
Gene3D	2.60.40.1180. 1 hit. 3.20.20.80. 1 hit.
InterPro	IPR013780. Glyco_hydro_13_b. IPR001139. Glyco_hydro_30. IPR013781. Glyco_hydro_catalytic_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHER	PTHR11069. PTHR11069. 1 hit.
Pfam	PF02055. Glyco_hydro_30. 1 hit. [Graphical view]
PRINTS	PR00843. GLHYDRLASE30.
SUPFAM	SSF51445. Glyco_hydro_cat. 1 hit.
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:	May 29, 2013
This is version 58 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program