Glucocerebrosidase

GBA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGBA, GBA1, GCB, GLUC, glucosylceramidase beta, Glucocerebrosidase
External IDsOMIM: 606463; MGI: 95665; HomoloGene: 68040; GeneCards: GBA; OMA:GBA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077411
NM_008094

RefSeq (protein)

NP_000148
NP_001005741
NP_001005742
NP_001165282
NP_001165283

NP_001070879
NP_032120

Location (UCSC)Chr 1: 155.23 – 155.24 MbChr 3: 89.11 – 89.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells).[5] It is localized in the lysosome, where it remains associated with the lysosomal membrane.[6] β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da.[citation needed]

  1. ^ a b c ENSG00000177628 GRCh38: Ensembl release 89: ENSG00000262446, ENSG00000177628Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028048Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Vielhaber G, Pfeiffer S, Brade L, Lindner B, Goldmann T, Vollmer E, Hintze U, Wittern KP, Wepf R (November 2001). "Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy". The Journal of Investigative Dermatology. 117 (5): 1126–36. doi:10.1046/j.0022-202x.2001.01527.x. PMID 11710923.
  6. ^ Rijnboutt S, Aerts HM, Geuze HJ, Tager JM, Strous GJ (March 1991). "Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells". The Journal of Biological Chemistry. 266 (8): 4862–8. doi:10.1016/S0021-9258(19)67728-8. hdl:1887/50559. PMID 1848227.