1OGS	Hydrolase	date	May 13, 2003
title	Human Acid-Beta-Glucosidase
authors	H.Dvir, M.Harel, A.A.Mccarthy, L.Toker, I.Silman, A.H.Futerman, J.L.Sussman
compound		source
Molecule: Glucosylceramidase Synonym: Glucocerebrosidase, Beta-Glucocerebrosidase, Acid Beta-Glucosidase, D-Glucosyl-N-Acylsphingosine Glucohydrolase, Alglucerase, Imiglucerase; Chain: A, B Ec: 3.2.1.45 Engineered: Yes		Synthetic: Yes Organism_scientific: Homo Sapiens Organism_common: Human Expression_system: Chinese Hamster Ovary Cells Expression_system_cell_line: Cho
symmetry	Space Group: C 2 2 21	R_factor	0.195
crystal cell	length a length b length c angle alpha angle beta angle gamma 107.735 285.232 91.678 90.00 90.00 90.00
method	X-Ray Diffraction	resolution	2.0 Å
ligand	SO4, NDG, NAG	enzyme	Hydrolase E.C.3.2.1.45
similarity	Belongs to family 30 of glycosyl hydrolases.[Glyco_hydro_30]
catalytic activ.	D-glucosyl-n-acylsphingosine + h(2)o = d- glucose + n-acylsphingosine.
subcellular loc.	Lysosomal, membrane bound.
genes	GBA, GC (H. sapiens)
Gene Ontology	chain A: GO:0004348, GO:0005764, GO:0005975, GO:0006665, GO:0007040, GO:0016020, GO:0016787, GO:0016798 chain B: GO:0004348, GO:0005764, GO:0005975, GO:0006665, GO:0007040, GO:0016020, GO:0016787, GO:0016798
disease	Gaucher disease with cardiovascularcalcification Gaucher disease Graves disease,susceptibility to,3 Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. Type 3 (subacute, neuronopathic) have central nervous manifestations. In most cases, nonimmune hydrops fetalis is present, it is associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism. Gaucher disease has been classified into three phenotypes. The defect leads to accumulation of glucosylceramide within the cells of the reticuloendothelial system. Another classification is based on the absence (type 1) or presence and severity of primary cns involvement. Defects in gba are the cause of pseudo-gaucher disease [mim. 231005]. Type 1 (adult, nonneuronopathic) is characterized by hepatosplenomegaly (consequent anemia and thrombopenia), and bone involvement, but the central nervous system is not involved. It is a distinct form of type 2 gaucher disease, characterized by fetal onset. It manifests soon after birth, with death generally occurring before patients reach two years of age. Defects in gba are the cause of gaucher disease (gd) [mim. 230800, 230900, 231000], the most prevalent lysosomal storage disease. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism in 35 to 43% of cases. Type 2 (acute neuronopathic), is the most severe form and is universally progressive and fatal. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Defects in gba are the cause of perinatal lethal gaucher disease [mim. 608013].
Primary reference	X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease., Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, Sussman JL, EMBO Rep 2003 Jul;4(7):704-9. PMID:12792654

Data retrieval

Asymmetric unit, PDB entry: [header only] [complete with coordinates] (208 Kb) [Save to disk] Biological Unit Coordinates (1ogs.pdb1.gz) 103 Kb LPC: Ligand-Protein Contacts for 1OGS CSU: Contacts of Structural Units for 1OGS Likely Quarternary Molecular Structure file(s) for 1OGS Structure Factors (r1ogssf.ent.Z) 721 Kb Retrieve 1OGS in mmCIF format [Save to disk]

View 1OGS in 3D

On Jmol, a nice Rasmol like molecule viewer. This is good for easiest viewing of basic structure. On AstexViewer, from MSD-EBI (viewer documentation). On RasMol (Install RasMol freeware) Here's help on how to use RasMol.

Visual 3D analysis of 1OGS

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Structure-derived information

Electro Density related parameters from EDS Electron Density Server, at Upsala Dipole moment, from Dipole Server at Weizmann Institute Crystal Contacts, from CryCo at Weizmann Institute Classification of representative domains in scop (Structural Classification of Proteins)     - Domain d1ogsa1, region A:1-77,A:432-497 [Jmol] [rasmolscript] [script source]     - Domain d1ogsa2, region A:78-431 [Jmol] [rasmolscript] [script source]     - Domain d1ogsb1, region B:1-77,B:432-497 [Jmol] [rasmolscript] [script source]     - Domain d1ogsb2, region B:78-431 [Jmol] [rasmolscript] [script source] Fold representative 1ogs from FSSP and Dali (Families of Structurally Similar Proteins)

Sequence-derived information

View one-letter amino acid or nucleotide sequence for each chain: [1ogs_A] [1ogs_B] SWISS-PROT database: [P04062] Domain organization of [GLCM_HUMAN] by SWISSPFAM Conserved protein region description, domain view and alignment from family Glyco_hydro_30 (PF02055) of Pfam. Alignments of the sequence of 1OGS with the sequences similar proteins can be viewed for classification [GLCM_HUMAN] at ProtoMap. Click on "Neighbors List", then on the "See Alignments" button below the list. A sequence distance tree ("phylogenetic tree") can be viewed for 1ACL's classification [GLCM_HUMAN] at ProtoMap. Click on the Cluster number.

Other resources with information on 1OGS

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