Q5R8E3 (GLCM_PONAB) 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

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.
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
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro lysosome organization Inferred from electronic annotation. Source: InterPro
Cellular component	lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
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 [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
EMBL GenBank DDBJ	CR858547 mRNA. Translation: CAH90774.1. CR859809 mRNA. Translation: CAH91967.1.
RefSeq	NP_001127488.1. NM_001134016.1. NP_001128784.1. NM_001135312.1.
UniGene	Pab.18904. Pab.19803.
3D structure databases
HSSP	HSSP built from PDB template 1OGS based on UniProtKB P04062.
ProteinModelPortal	Q5R8E3.
SMR	Q5R8E3. Positions 40-536.
ModBase	Search...
Protein family/group databases
CAZy	GH30. Glycoside Hydrolase Family 30.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSPPYT00000000903; ENSPPYP00000000872; ENSPPYG00000000751.
GeneID	100174563. 100189687.
KEGG	pon:100174563. pon:100189687.
Organism-specific databases
CTD	2629.
Phylogenomic databases
HOVERGEN	HBG002285.
InParanoid	Q5R8E3.
Family and domain databases
InterPro	IPR013780. Glyco_hydro_13_b. IPR001139. Glyco_hydro_30. IPR013781. Glyco_hydro_subgr_catalytic. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
Gene3D	G3DSA:2.60.40.1180. Glyco_hydro_13_b. 1 hit. G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
KO	K01201.
PANTHER	PTHR11069. Glyco_hydro_30. 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_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:	January 25, 2012
This is version 41 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program