Q9BDT0 (GLCM_PANTR) 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
Synonyms:	GC

Organism

Pan troglodytes (Chimpanzee) [Reference proteome]

Taxonomic identifier

9598 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Pan

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_0000012179
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)
	Q9BDT0 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: E1A61BF380FF1888	FASTA	536	59,664
	10 20 30 40 50 60 MEFSSPSREE CPKPSGRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT 70 80 90 100 110 120 YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGTIQANHT GTGLLLTLQP EQKFQKVKGF 130 140 150 160 170 180 GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD 190 200 210 220 230 240 FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP 250 260 270 280 290 300 GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA 310 320 330 340 350 360 RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK 370 380 390 400 410 420 ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW 430 440 450 460 470 480 NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK 490 500 510 520 530 NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

References

[1]	"Allelic variability on the glucocerebrosidase pseudogene." Martinez-Arias R., Comas D., Bertranpetit J. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF285236 Genomic DNA. Translation: AAK18162.1.
RefSeq	NP_001008997.1. NM_001008997.1.
UniGene	Ptr.1561.
3D structure databases
ProteinModelPortal	Q9BDT0.
SMR	Q9BDT0. Positions 40-536.
ModBase	Search...
Protein-protein interaction databases
STRING	9598.ENSPTRP00000002393.
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	449571.
KEGG	ptr:449571.
Organism-specific databases
CTD	2629.
Phylogenomic databases
eggNOG	COG5520.
HOGENOM	HOG000270031.
HOVERGEN	HBG002285.
InParanoid	Q9BDT0.
KO	K01201.
OrthoDB	EOG43XV3S.
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...
Other
NextBio	20832686.

Entry information

Entry name

GLCM_PANTR

Accession

Primary (citable) accession number: Q9BDT0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 21, 2003
Last sequence update:	June 1, 2001
Last modified:	May 29, 2013
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program