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P04062

- GLCM_HUMAN

UniProt

P04062 - GLCM_HUMAN

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Protein
Glucosylceramidase
Gene
GBA, GC, GLUC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.

Enzyme regulationi

Requires saposin-C and anionic phospholipids for activity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei274 – 2741Proton donor2 Publications
Active sitei379 – 3791Nucleophile2 Publications

GO - Molecular functioni

  1. glucosylceramidase activity Source: BHF-UCL
  2. protein binding Source: UniProtKB
  3. receptor binding Source: BHF-UCL

GO - Biological processi

  1. carbohydrate metabolic process Source: InterPro
  2. cell death Source: UniProtKB-KW
  3. cellular response to tumor necrosis factor Source: BHF-UCL
  4. ceramide biosynthetic process Source: BHF-UCL
  5. glucosylceramide catabolic process Source: BHF-UCL
  6. glycosphingolipid metabolic process Source: Reactome
  7. negative regulation of MAP kinase activity Source: BHF-UCL
  8. negative regulation of inflammatory response Source: BHF-UCL
  9. negative regulation of interleukin-6 production Source: BHF-UCL
  10. positive regulation of protein dephosphorylation Source: BHF-UCL
  11. regulation of water loss via skin Source: Ensembl
  12. response to estrogen Source: Ensembl
  13. response to glucocorticoid Source: Ensembl
  14. response to pH Source: Ensembl
  15. response to testosterone Source: Ensembl
  16. response to thyroid hormone Source: Ensembl
  17. skin morphogenesis Source: Ensembl
  18. small molecule metabolic process Source: Reactome
  19. sphingolipid metabolic process Source: Reactome
  20. sphingosine biosynthetic process Source: BHF-UCL
  21. termination of signal transduction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi3.2.1.45. 2681.
ReactomeiREACT_116105. Glycosphingolipid metabolism.

Protein family/group databases

CAZyiGH30. Glycoside Hydrolase Family 30.

Names & Taxonomyi

Protein namesi
Recommended name:
Glucosylceramidase (EC:3.2.1.45)
Alternative name(s):
Acid beta-glucosidase
Alglucerase
Beta-glucocerebrosidase
Short name:
Beta-GC
D-glucosyl-N-acylsphingosine glucohydrolase
Imiglucerase
Gene namesi
Name:GBA
Synonyms:GC, GLUC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4177. GBA.

Subcellular locationi

Lysosome membrane; Peripheral membrane protein; Lumenal side
Note: Interaction with saposin-C promotes membrane association. Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2.3 Publications

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. lysosomal lumen Source: BHF-UCL
  3. lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
Note: The disease is caused by mutations affecting the gene represented in this entry.48 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541V → L in GD. 1 Publication
VAR_003255
Natural varianti55 – 551C → S in GD; neuronopathic and perinatal lethal forms; loss of activity. 3 Publications
VAR_032394
Natural varianti63 – 631D → N in GD1; very low activity. 1 Publication
VAR_032395
Natural varianti76 – 761F → V in GD. 1 Publication
VAR_003256
Natural varianti80 – 801E → K in GD2. 1 Publication
Corresponds to variant rs1141808 [ dbSNP | Ensembl ].
VAR_009033
Natural varianti82 – 821T → I in GD.
VAR_003257
Natural varianti85 – 851G → E in GD. 2 Publications
VAR_003258
Natural varianti87 – 871R → Q in GD; 20% of normal activity. 1 Publication
VAR_032197
Natural varianti87 – 871R → W in GD; mild. 3 Publications
Corresponds to variant rs1141814 [ dbSNP | Ensembl ].
VAR_003259
Natural varianti118 – 1181K → N in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation. 2 Publications
VAR_003260
Natural varianti129 – 1291A → T in GD. 1 Publication
VAR_032397
Natural varianti146 – 1461S → L in GD; type 2. 1 Publication
VAR_009034
Natural varianti152 – 1521G → E in GD. 1 Publication
VAR_003261
Natural varianti156 – 1561N → D in GD. 1 Publication
VAR_032398
Natural varianti158 – 1581I → S in GD1; very low activity. 1 Publication
VAR_032399
Natural varianti158 – 1581I → T in GD.
VAR_003262
Natural varianti159 – 1591R → Q in GD; type 2; 13% of normal activity. 2 Publications
VAR_003263
Natural varianti159 – 1591R → W in GD; severe. 3 Publications
VAR_003264
Natural varianti161 – 1611P → L in GD; 16% of normal activity. 1 Publication
VAR_032198
Natural varianti161 – 1611P → S in GD; mild.
VAR_003265
Natural varianti162 – 1621M → V in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032199
Natural varianti166 – 1661D → V in GD; 9% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032200
Natural varianti170 – 1701R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 Publications
VAR_009035
Natural varianti170 – 1701R → L in GD. 1 Publication
VAR_009036
Natural varianti173 – 1731T → I in GD. 1 Publication
VAR_032400
Natural varianti173 – 1731T → P in GD. 2 Publications
VAR_003266
Natural varianti175 – 1751A → E in GD. 1 Publication
VAR_032401
Natural varianti179 – 1791D → H in GD.
VAR_003267
Natural varianti196 – 1961K → Q in GD; severe.
VAR_003268
Natural varianti198 – 1981P → L in GD. 1 Publication
VAR_009037
Natural varianti198 – 1981P → T in GD. 1 Publication
VAR_032402
Natural varianti200 – 2001I → N in GD; 5% of normal activity. 1 Publication
VAR_032201
Natural varianti200 – 2001I → S in GD.
VAR_010059
Natural varianti201 – 2011H → P in GD. 1 Publication
VAR_032403
Natural varianti209 – 2091R → C in GD. 1 Publication
VAR_032404
Natural varianti209 – 2091R → P in GD. 1 Publication
VAR_003269
Natural varianti213 – 2131L → F in GD; 12% of normal activity. 1 Publication
VAR_032202
Natural varianti215 – 2151A → D in GD. 1 Publication
VAR_003270
Natural varianti217 – 2171P → S in GD; type 2. 1 Publication
VAR_003271
Natural varianti221 – 2211P → L in GD1; very low activity. 1 Publication
VAR_032405
Natural varianti221 – 2211P → T in GD. 1 Publication
VAR_003272
Natural varianti223 – 2231W → R in GD; gene conversion. 1 Publication
VAR_003273
Natural varianti224 – 2241L → F in GD; 4% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032203
Natural varianti227 – 2271N → K in GD; gene conversion.
Corresponds to variant rs381418 [ dbSNP | Ensembl ].
VAR_003275
Natural varianti227 – 2271N → S in GD; type 2. 3 Publications
Corresponds to variant rs364897 [ dbSNP | Ensembl ].
VAR_003274
Natural varianti228 – 2281G → V in GD. 1 Publication
VAR_010060
Natural varianti229 – 2291A → E in GD; type 2.
VAR_009038
Natural varianti229 – 2291A → T in GD. 1 Publication
VAR_032406
Natural varianti230 – 2301V → E in GD1; very low activity. 1 Publication
VAR_032407
Natural varianti230 – 2301V → G in GD1; gene conversion. 2 Publications
Corresponds to variant rs381427 [ dbSNP | Ensembl ].
VAR_003276
Natural varianti232 – 2321G → E in GD; also found in a patient with Parkinson disease; 7% of normal activity. 2 Publications
VAR_032204
Natural varianti234 – 2341G → E in GD; severe. 1 Publication
VAR_003277
Natural varianti234 – 2341G → W in GD. 1 Publication
VAR_009039
Natural varianti235 – 2351S → P in GD; type 2; gene conversion. 2 Publications
Corresponds to variant rs1064644 [ dbSNP | Ensembl ].
VAR_003278
Natural varianti237 – 2371K → E in GD; severe; loss of activity; increases susceptibility to proteolytic degradation. 2 Publications
VAR_032205
Natural varianti241 – 2411G → E in GD.
VAR_010061
Natural varianti241 – 2411G → R in GD; type 1 and type 2; gene conversion. 7 Publications
VAR_003279
Natural varianti244 – 2441Y → C in GD. 1 Publication
VAR_010062
Natural varianti251 – 2511Y → H in GD.
VAR_003280
Natural varianti252 – 2521F → I in GD; type 2; gene conversion. 6 Publications
Corresponds to variant rs381737 [ dbSNP | Ensembl ].
VAR_003281
Natural varianti255 – 2551F → Y in GD; mild. 1 Publication
VAR_003282
Natural varianti270 – 2701T → R in GD. 1 Publication
VAR_032408
Natural varianti276 – 2761S → P in GD.
VAR_003283
Natural varianti290 – 2901F → L in GD; perinatal lethal form. 1 Publication
VAR_032409
Natural varianti294 – 2941H → Q in GD1; also found in Gaucher disease type 2. 1 Publication
VAR_009040
Natural varianti296 – 2961R → Q in GD; type 2; also found in a patient with Parkinson disease. 3 Publications
VAR_003284
Natural varianti298 – 2981F → L in GD; type 2; 4% of normal activity. 2 Publications
VAR_009041
Natural varianti303 – 3031L → I in GD; 5% of normal activity. 1 Publication
VAR_032206
Natural varianti304 – 3041G → D in GD.
VAR_010063
Natural varianti305 – 3051P → R in GD; mild.
VAR_003285
Natural varianti310 – 3101S → N in GD; less than 5% of normal activity. 1 Publication
VAR_010064
Natural varianti324 – 3241R → C in GD; type 1. 3 Publications
VAR_003286
Natural varianti324 – 3241R → H in GD; type 2.
VAR_009042
Natural varianti328 – 3281P → L in GD; mild.
VAR_003287
Natural varianti342 – 3421K → I in GD.
VAR_003288
Natural varianti343 – 3431Y → C in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_009043
Natural varianti348 – 3481A → V in GD.
VAR_003289
Natural varianti350 – 3501H → R in perinatal lethal GD. 1 Publication
VAR_009044
Natural varianti351 – 3511W → C in GD; mild.
VAR_003290
Natural varianti352 – 3521Y → H in GD. 1 Publication
VAR_003291
Natural varianti354 – 3541D → H in GD.
VAR_003292
Natural varianti357 – 3571A → D in GD.
VAR_003293
Natural varianti362 – 3621T → I in GD; 6% of normal activity. 1 Publication
VAR_003294
Natural varianti363 – 3631L → P in GD.
VAR_003295
Natural varianti364 – 3641G → R in GD; type 2. 1 Publication
VAR_003296
Natural varianti365 – 3651E → K in GD; mild; 42% of normal activity. 2 Publications
Corresponds to variant rs2230288 [ dbSNP | Ensembl ].
VAR_003297
Natural varianti380 – 3801A → T in GD. 2 Publications
VAR_009045
Natural varianti381 – 3811C → G in GD; type 2; loss of activity. 1 Publication
VAR_003298
Natural varianti388 – 3881E → K in GD; 12% of normal activity. 1 Publication
VAR_032207
Natural varianti391 – 3911V → L in GD. 1 Publication
VAR_010065
Natural varianti392 – 3921R → G in GD. 1 Publication
VAR_010066
Natural varianti392 – 3921R → W in GD; 5% of normal activity. 1 Publication
VAR_032208
Natural varianti398 – 3981R → Q in GD; mild. 1 Publication
VAR_003299
Natural varianti400 – 4001M → I in GD. 1 Publication
Corresponds to variant rs149487315 [ dbSNP | Ensembl ].
VAR_032412
Natural varianti402 – 4021Y → C in GD; 8% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032209
Natural varianti403 – 4031S → T in GD; mild.
VAR_003300
Natural varianti405 – 4051S → G in GD. 1 Publication
VAR_010067
Natural varianti405 – 4051S → N in GD. 1 Publication
VAR_009046
Natural varianti408 – 4081T → M in GD. 2 Publications
Corresponds to variant rs2230289 [ dbSNP | Ensembl ].
VAR_003301
Natural varianti409 – 4091N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. 15 Publications
Corresponds to variant rs76763715 [ dbSNP | Ensembl ].
VAR_003302
Natural varianti410 – 4101L → V in GD; 15% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032210
Natural varianti414 – 4141V → L in GD; mild. 1 Publication
VAR_010068
Natural varianti416 – 4161G → S in GD; mild. 2 Publications
VAR_003303
Natural varianti417 – 4171W → G in GD. 1 Publication
VAR_003304
Natural varianti419 – 4191D → A in GD; type 2; also found in a patient with Parkinson disease. 1 Publication
VAR_003305
Natural varianti419 – 4191D → H in GD; 4% of normal activity. 1 Publication
VAR_032211
Natural varianti419 – 4191D → N in GD. 1 Publication
VAR_003306
Natural varianti421 – 4211N → K in GD; 22% of normal activity. 1 Publication
VAR_032212
Natural varianti426 – 4261P → L in GD. 1 Publication
VAR_010069
Natural varianti428 – 4281G → E in GD; type 2. 1 Publication
VAR_003307
Natural varianti429 – 4291G → R in GD; 17% of normal activity. 1 Publication
VAR_032213
Natural varianti430 – 4301P → L in GD. 1 Publication
VAR_003308
Natural varianti431 – 4311N → I in GD; type 2. 1 Publication
VAR_003309
Natural varianti432 – 4321W → R in GD. 1 Publication
VAR_009047
Natural varianti433 – 4331V → L in GD; severe; 12% of normal activity. 3 Publications
VAR_003310
Natural varianti435 – 4351N → T in GD1; mild. 1 Publication
VAR_003311
Natural varianti436 – 4361F → S in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation. 1 Publication
VAR_032214
Natural varianti437 – 4371V → F in perinatal lethal GD. 1 Publication
VAR_009048
Natural varianti437 – 4371V → L in GD3. 1 Publication
VAR_010070
Natural varianti438 – 4381D → N in GD; type 1 and type 2; 14% of normal activity; increases susceptibility to proteolytic degradation. 3 Publications
VAR_003312
Natural varianti438 – 4381D → Y in GD. 1 Publication
VAR_032413
Natural varianti440 – 4401P → L in GD1. 2 Publications
VAR_010071
Natural varianti441 – 4411I → F in GD; type 3. 1 Publication
VAR_032414
Natural varianti441 – 4411I → T in GD; mild. 1 Publication
VAR_010072
Natural varianti448 – 4481D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 Publications
Corresponds to variant rs1064651 [ dbSNP | Ensembl ].
VAR_003313
Natural varianti448 – 4481D → V in GD; severe; very low activity; alters protein stability.
VAR_003314
Natural varianti450 – 4501F → I in GD.
VAR_010073
Natural varianti451 – 4511Y → H in GD. 1 Publication
VAR_003315
Natural varianti452 – 4521K → Q in GD. 1 Publication
VAR_010074
Natural varianti454 – 4541P → R in GD; type 2.
VAR_003316
Natural varianti455 – 4551M → V in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032215
Natural varianti456 – 4561F → V in GD.
VAR_003317
Natural varianti457 – 4571Y → C in GD. 2 Publications
VAR_003318
Natural varianti460 – 4601G → D in GD1; associated with R-490; loss of activity. 1 Publication
VAR_032415
Natural varianti464 – 4641K → E in GD; severe.
VAR_003319
Natural varianti483 – 4831L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 14 Publications
VAR_003321
Natural varianti483 – 4831L → R in GD; severe.
VAR_003320
Natural varianti485 – 4851A → P in GD.
VAR_003322
Natural varianti490 – 4901H → R in GD; type 1; associated with D-460. 2 Publications
VAR_032416
Natural varianti495 – 4951A → P in GD; gene conversion. 1 Publication
Corresponds to variant rs368060 [ dbSNP | Ensembl ].
VAR_003323
Natural varianti500 – 5001L → P in GD; 10% of normal activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032216
Natural varianti501 – 5011N → K in GD; type 2. 1 Publication
VAR_009049
Natural varianti502 – 5021R → C in GD; 37% of normal activity; also found in patients with Parkinson disease. 3 Publications
VAR_003324
Natural varianti502 – 5021R → P in GD; loss of activity; increases susceptibility to proteolytic degradation. 1 Publication
VAR_032217
Natural varianti513 – 5131D → Y in GD2. 1 Publication
VAR_009050
Natural varianti517 – 5171G → S in GD.
VAR_003326
Natural varianti530 – 5301T → I in GD3. 1 Publication
VAR_010075
Natural varianti535 – 5351R → C in GD; mild. 1 Publication
VAR_003327
Natural varianti535 – 5351R → H in GD; mild. 1 Publication
VAR_003328
Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631D → N in GD1; very low activity. 1 Publication
VAR_032395
Natural varianti158 – 1581I → S in GD1; very low activity. 1 Publication
VAR_032399
Natural varianti170 – 1701R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 Publications
VAR_009035
Natural varianti221 – 2211P → L in GD1; very low activity. 1 Publication
VAR_032405
Natural varianti230 – 2301V → E in GD1; very low activity. 1 Publication
VAR_032407
Natural varianti230 – 2301V → G in GD1; gene conversion. 2 Publications
Corresponds to variant rs381427 [ dbSNP | Ensembl ].
VAR_003276
Natural varianti294 – 2941H → Q in GD1; also found in Gaucher disease type 2. 1 Publication
VAR_009040
Natural varianti409 – 4091N → S in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C; mild. 15 Publications
Corresponds to variant rs76763715 [ dbSNP | Ensembl ].
VAR_003302
Natural varianti435 – 4351N → T in GD1; mild. 1 Publication
VAR_003311
Natural varianti440 – 4401P → L in GD1. 2 Publications
VAR_010071
Natural varianti460 – 4601G → D in GD1; associated with R-490; loss of activity. 1 Publication
VAR_032415
Natural varianti483 – 4831L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 14 Publications
VAR_003321
Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801E → K in GD2. 1 Publication
Corresponds to variant rs1141808 [ dbSNP | Ensembl ].
VAR_009033
Natural varianti170 – 1701R → C in GD1 and GD2; also found in a patient with Parkinson disease. 3 Publications
VAR_009035
Natural varianti483 – 4831L → P in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability. 14 Publications
VAR_003321
Natural varianti513 – 5131D → Y in GD2. 1 Publication
VAR_009050
Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti437 – 4371V → L in GD3. 1 Publication
VAR_010070
Natural varianti448 – 4481D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 Publications
Corresponds to variant rs1064651 [ dbSNP | Ensembl ].
VAR_003313
Natural varianti530 – 5301T → I in GD3. 1 Publication
VAR_010075
Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti448 – 4481D → H in GD; type 1 and type neuronopathic; at homozygosity it causes GD3C; also found in a patient with Parkinson disease; gene conversion; very low activity; alters protein stability. 10 Publications
Corresponds to variant rs1064651 [ dbSNP | Ensembl ].
VAR_003313
Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.6 Publications
Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.6 Publications

Pharmaceutical usei

Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi43 – 431C → S: Loss of activity. 1 Publication
Mutagenesisi57 – 571C → S: Loss of activity. 1 Publication
Mutagenesisi62 – 621C → S: Loss of activity. 1 Publication
Mutagenesisi379 – 3791E → G: Decreases activity 1000-fold. 1 Publication

Keywords - Diseasei

Disease mutation, Gaucher disease, Ichthyosis, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

MIMi168600. phenotype.
230800. phenotype.
230900. phenotype.
231000. phenotype.
231005. phenotype.
608013. phenotype.
Orphaneti1648. Dementia with Lewy body.
85212. Fetal Gaucher disease.
2072. Gaucher disease - ophthalmoplegia - cardiovascular calcification.
77259. Gaucher disease type 1.
77260. Gaucher disease type 2.
77261. Gaucher disease type 3.
319705. Parkinson disease.
2828. Young adult-onset Parkinsonism.
PharmGKBiPA28591.

Protein family/group databases

Allergomei8244. Hom s Glucocerebrosidase.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3939In isoform Long1 Publication
Add
BLAST
Signal peptidei21 – 3919In isoform Short1 Publication
Add
BLAST
Chaini40 – 536497Glucosylceramidase
PRO_0000012177Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi43 ↔ 551 Publication
Disulfide bondi57 ↔ 621 Publication
Glycosylationi58 – 581N-linked (GlcNAc...)2 Publications
Glycosylationi98 – 981N-linked (GlcNAc...)3 Publications
Glycosylationi185 – 1851N-linked (GlcNAc...)2 Publications
Glycosylationi309 – 3091N-linked (GlcNAc...)2 Publications
Glycosylationi501 – 5011N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP04062.
PaxDbiP04062.
PRIDEiP04062.

PTM databases

PhosphoSiteiP04062.

Expressioni

Gene expression databases

ArrayExpressiP04062.
BgeeiP04062.
CleanExiHS_GBA.
HS_GC.
GenevestigatoriP04062.

Organism-specific databases

HPAiHPA006667.

Interactioni

Subunit structurei

Interacts with saposin-C. Interacts with SCARB2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Scarb2O351141EBI-1564609,EBI-1564519From a different organism.

Protein-protein interaction databases

BioGridi108899. 11 interactions.
DIPiDIP-38645N.
IntActiP04062. 5 interactions.
MINTiMINT-3004354.
STRINGi9606.ENSP00000314508.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
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