Reviewed, UniProtKB/Swiss-Prot Q5R8E3 (GLCM_PONAB)

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

Pongo abelii (Sumatran orangutan)

Taxonomic identifier

9601 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Pongo

Protein attributes

Sequence length	536 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)

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_0000278649
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
Experimental info
	Sequence conflict	61	1	Y → C in CAH90774. Ref.1
	Sequence conflict	316	1	R → H in CAH90774. Ref.1
	Sequence conflict	478	1	S → G in CAH90774. Ref.1
	Sequence conflict	534	1	R → C in CAH90774. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q5R8E3-1 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: E4D6A3B89FAFE8CF	FASTA	536	59,682
	10 20 30 40 50 60 MEFSSPSREE CPKPSGRVNI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT 70 80 90 100 110 120 YCDSLDPLTF PALGTFSRYE STRSGRRMEL STGTIQANHT GTGLLLTLQP EQKFQKVKGF 130 140 150 160 170 180 GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD 190 200 210 220 230 240 FQLHNFSLPE EDTKLKIPLI HRALQLARRP 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 ATLGETHHLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW 430 440 450 460 470 480 NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK 490 500 510 520 530 NDLDTVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

References

[1]	The German cDNA consortium Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.

Cross-references

Sequence databases
EMBLGenBankDDBJ	CR858547 mRNA. Translation: CAH90774.1. CR859809 mRNA. Translation: CAH91967.1.
RefSeq	NP_001127488.1. NP_001128784.1.
UniGene	Pab.10115 Pab.18904
3D structure databases
SMR	Q5R8E3. Positions 40-536.
ModBase	Search...
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
Genome annotation databases
GeneID	100174563. 100189687.
Organism-specific databases
CTD	100174563.
Phylogenomic databases
HOVERGEN	Q5R8E3.
Enzyme and pathway databases
BRENDA	3.2.1.45. 269192.
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_PONAB

Accession

Primary (citable) accession number: Q5R8E3
Secondary accession number(s): Q5RBT6

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 20, 2007
Last sequence update:	December 21, 2004
Last modified:	October 13, 2009
This is version 27 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)