UniProt Accession

 GLCM_HUMAN; P04062; A8K796; Q16545; Q4VX22; Q6I9R6; Q9UMJ8 

Genbank Protein ID

 M16328; K02920; J03059; D13286; D13287; AF023268; AK291911; AL713999; BC003356; M19285; M18916; M18917; M20248; M20282 

Genbank Nucleotide ID

 AAA35873.1; AAA35877.1; AAC63056.1; BAA02545.1; BAA02546.1; AAC51820.1; BAF84600.1; CAI95090.1; AAH03356.1; AAA35880.1; AAA35878.1; AAA35879.1; AAA35874.1; AAA35876.1 

Protein Name

 Glucosylceramidase 

Protein Synonyms/Alias

 Acid beta-glucosidase; Alglucerase; Beta-glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; Imiglucerase 

Gene Name

 GBA 

Gene Synonyms/Alias

 GC; GLUC 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
118	EQKFQKVKGFGGAMT	ubiquitination	[1]
225	WTSPTWLKTNGAVNG	ubiquitination	[1]
332	LLLPHWAKVVLTDPE	ubiquitination	[2]
447	PIIVDITKDTFYKQP	ubiquitination	[2]

Reference

 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961]
 [2] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 

Functional Description

  

Sequence Annotation

 ACT_SITE 274 274 Proton donor.
 ACT_SITE 379 379 Nucleophile.
 CARBOHYD 58 58 N-linked (GlcNAc...).
 CARBOHYD 98 98 N-linked (GlcNAc...).
 CARBOHYD 185 185 N-linked (GlcNAc...).
 CARBOHYD 309 309 N-linked (GlcNAc...).
 CARBOHYD 501 501 N-linked (GlcNAc...) (Potential).
 DISULFID 43 55
 DISULFID 57 62  

Keyword

 3D-structure; Alternative initiation; Alternative splicing; Complete proteome; Direct protein sequencing; Disease mutation; Disulfide bond; Gaucher disease; Glycoprotein; Glycosidase; Hydrolase; Ichthyosis; Lipid metabolism; Lysosome; Membrane; Neurodegeneration; Parkinson disease; Parkinsonism; Pharmaceutical; Polymorphism; Reference proteome; Signal; Sphingolipid metabolism. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 536 AA 

Protein Sequence

Gene Ontology

 GO:0043202; C:lysosomal lumen; ISS:BHF-UCL.
 GO:0005765; C:lysosomal membrane; ISS:BHF-UCL.
 GO:0004348; F:glucosylceramidase activity; IDA:BHF-UCL.
 GO:0005102; F:receptor binding; ISS:BHF-UCL.
 GO:0005975; P:carbohydrate metabolic process; IEA:InterPro.
 GO:0008219; P:cell death; IEA:UniProtKB-KW.
 GO:0071356; P:cellular response to tumor necrosis factor; IMP:BHF-UCL.
 GO:0046513; P:ceramide biosynthetic process; IMP:BHF-UCL.
 GO:0006680; P:glucosylceramide catabolic process; IMP:BHF-UCL.
 GO:0050728; P:negative regulation of inflammatory response; IC:BHF-UCL.
 GO:0032715; P:negative regulation of interleukin-6 production; IDA:BHF-UCL.
 GO:0043407; P:negative regulation of MAP kinase activity; IMP:BHF-UCL.
 GO:0035307; P:positive regulation of protein dephosphorylation; IMP:BHF-UCL.
 GO:0046512; P:sphingosine biosynthetic process; IMP:BHF-UCL.
 GO:0023021; P:termination of signal transduction; IMP:BHF-UCL. 

Interpro

 IPR013780; Glyco_hydro_13_b.
 IPR001139; Glyco_hydro_30.
 IPR013781; Glyco_hydro_catalytic_dom.
 IPR017853; Glycoside_hydrolase_SF. 

Pfam

 PF02055; Glyco_hydro_30 

SMART

  

PROSITE

  

PRINTS

 PR00843; GLHYDRLASE30.