Details for: GBA1

Gene ID: 2629

Symbol: GBA1

Ensembl ID: ENSG00000177628

Description: glucosylceramidase beta 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 77.5980
    Cell Significance Index: -12.0700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 44.6690
    Cell Significance Index: -11.3300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.0395
    Cell Significance Index: -12.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.0977
    Cell Significance Index: -12.4500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8229
    Cell Significance Index: -12.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.7376
    Cell Significance Index: -11.4800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.1956
    Cell Significance Index: -12.6100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.8002
    Cell Significance Index: -3.9400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.2491
    Cell Significance Index: 31.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.0820
    Cell Significance Index: 74.8300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9046
    Cell Significance Index: 816.7400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6248
    Cell Significance Index: 67.9600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6234
    Cell Significance Index: 101.3900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.5678
    Cell Significance Index: 1.2800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5247
    Cell Significance Index: 31.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4016
    Cell Significance Index: 76.4300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4014
    Cell Significance Index: 11.7900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.3779
    Cell Significance Index: 5.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3496
    Cell Significance Index: 63.0300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2770
    Cell Significance Index: 5.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2400
    Cell Significance Index: 47.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2388
    Cell Significance Index: 47.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2142
    Cell Significance Index: 9.9900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2097
    Cell Significance Index: 3.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2045
    Cell Significance Index: 25.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1932
    Cell Significance Index: 5.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1888
    Cell Significance Index: 4.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1868
    Cell Significance Index: 18.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1832
    Cell Significance Index: 65.7300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1632
    Cell Significance Index: 4.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1598
    Cell Significance Index: 21.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1000
    Cell Significance Index: 11.7900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0781
    Cell Significance Index: 42.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0707
    Cell Significance Index: 4.5600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0655
    Cell Significance Index: 11.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0633
    Cell Significance Index: 27.9800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0614
    Cell Significance Index: 1.7700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0551
    Cell Significance Index: 4.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0518
    Cell Significance Index: 3.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0513
    Cell Significance Index: 6.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0470
    Cell Significance Index: 2.4400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0431
    Cell Significance Index: 0.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0350
    Cell Significance Index: 0.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0316
    Cell Significance Index: 3.6200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0156
    Cell Significance Index: 0.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0148
    Cell Significance Index: 0.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0064
    Cell Significance Index: 0.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0042
    Cell Significance Index: 7.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0017
    Cell Significance Index: 1.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0008
    Cell Significance Index: 1.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0002
    Cell Significance Index: 0.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0025
    Cell Significance Index: -0.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0032
    Cell Significance Index: -2.3300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0048
    Cell Significance Index: -0.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0058
    Cell Significance Index: -7.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0070
    Cell Significance Index: -0.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.3800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0074
    Cell Significance Index: -0.0600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0099
    Cell Significance Index: -1.4400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0139
    Cell Significance Index: -8.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0147
    Cell Significance Index: -8.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0222
    Cell Significance Index: -13.8600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0233
    Cell Significance Index: -10.5700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0315
    Cell Significance Index: -1.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0328
    Cell Significance Index: -1.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0436
    Cell Significance Index: -2.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0460
    Cell Significance Index: -2.0400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0470
    Cell Significance Index: -1.7800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0521
    Cell Significance Index: -1.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0570
    Cell Significance Index: -2.6800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0574
    Cell Significance Index: -12.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0649
    Cell Significance Index: -3.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0844
    Cell Significance Index: -6.4800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0912
    Cell Significance Index: -0.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1072
    Cell Significance Index: -2.8200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1138
    Cell Significance Index: -1.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1176
    Cell Significance Index: -12.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1230
    Cell Significance Index: -7.7500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1302
    Cell Significance Index: -2.7000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1372
    Cell Significance Index: -3.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1511
    Cell Significance Index: -5.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1583
    Cell Significance Index: -6.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1597
    Cell Significance Index: -12.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1739
    Cell Significance Index: -10.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1918
    Cell Significance Index: -5.2200
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.2337
    Cell Significance Index: -2.2200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2465
    Cell Significance Index: -3.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2475
    Cell Significance Index: -7.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2565
    Cell Significance Index: -3.5000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2607
    Cell Significance Index: -9.5700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2683
    Cell Significance Index: -9.4000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2707
    Cell Significance Index: -4.6800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2746
    Cell Significance Index: -8.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2761
    Cell Significance Index: -5.7800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2764
    Cell Significance Index: -7.9200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2785
    Cell Significance Index: -8.8700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2870
    Cell Significance Index: -6.2000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3318
    Cell Significance Index: -3.4400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.3334
    Cell Significance Index: -4.8400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3342
    Cell Significance Index: -8.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** GBA1 is a soluble enzyme that is secreted by cells and then taken up by lysosomes, where it catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. This process is essential for maintaining cellular homeostasis, as the accumulation of glucosylceramide can lead to cellular dysfunction and death. GBA1 has a unique structure, consisting of a catalytic domain and a cytoplasmic tail. The catalytic domain is responsible for the hydrolysis of glucosylceramide, while the cytoplasmic tail is involved in the regulation of the enzyme's activity and localization. **Pathways and Functions** GBA1 is involved in several cellular pathways, including: 1. **Glycosphingolipid metabolism**: GBA1 is essential for the breakdown and recycling of glycosphingolipids, which are important components of cellular membranes. 2. **Autophagy**: GBA1 plays a role in the regulation of autophagy, a process by which cells recycle damaged or dysfunctional organelles and proteins. 3. **Lysosomal function**: GBA1 is a key enzyme in the lysosomal pathway, responsible for the degradation of glucosylceramide and other glycosphingolipids. 4. **Sphingolipid biosynthesis**: GBA1 is involved in the regulation of sphingolipid biosynthesis, which is important for cellular signaling and membrane structure. **Clinical Significance** Mutations in the GBA1 gene have been associated with several lysosomal storage disorders, including: 1. **Gaucher disease**: A condition characterized by the accumulation of glucocerebroside in cells and tissues, leading to cellular dysfunction and death. 2. **Sphingolipidosis**: A condition characterized by the accumulation of sphingolipids in cells and tissues, leading to cellular dysfunction and death. 3. **Neurodegenerative disorders**: Mutations in the GBA1 gene have been associated with an increased risk of neurodegenerative disorders, including Parkinson's disease and Alzheimer's disease. GBA1 is also a potential therapeutic target for the treatment of various diseases, including cancer and neurodegenerative disorders. Inhibitors of GBA1 have been shown to have anti-tumor and neuroprotective effects, and are being investigated as potential therapeutic agents. In conclusion, GBA1 is a critical enzyme involved in the breakdown and recycling of glycosphingolipids, and its dysregulation has been associated with several lysosomal storage disorders and neurodegenerative diseases. Further research is needed to fully understand the role of GBA1 in human health and disease, and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 3500333418

Symbol: GBA1_HUMAN

Name: Acid beta-glucosidase

UniProtKB Accession Codes:

P04062 A8K796 B7Z5G2 B7Z6S1 J3KQG4 J3KQK9 Q16545 Q4VX22 Q6I9R6 Q9UMJ8

Database IDs:

ABCD 1 AGR 1 Allergome 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CTD 1 ChEBI 56 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 2 EMBL 16 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 63 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 14 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 47 PDBsum 47 PIR 3 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 5 Rhea 37 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3864160

Title: Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.

PubMed ID: 3864160

DOI: 10.1073/pnas.82.21.7289

PubMed ID: 3001061

Title: Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.

PubMed ID: 3001061

DOI: 10.1016/s0021-9258(17)42428-8

PubMed ID: 2914709

Title: The human glucocerebrosidase gene and pseudogene: structure and evolution.

PubMed ID: 2914709

DOI: 10.1016/0888-7543(89)90319-4

PubMed ID: 1572652

Title: Polymorphisms in the human glucocerebrosidase gene.

PubMed ID: 1572652

DOI: 10.1016/0888-7543(92)90311-f

PubMed ID: 8294033

Title: A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.

PubMed ID: 8294033

DOI: 10.1016/0378-1119(93)90497-q

PubMed ID: 9331372

Title: Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.

PubMed ID: 9331372

DOI: 10.1101/gr.7.10.1020

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3359914

Title: Structural analysis of the human glucocerebrosidase genes.

PubMed ID: 3359914

DOI: 10.1089/dna.1988.7.107

PubMed ID: 3687939

Title: The human glucocerebrosidase gene has two functional ATG initiator codons.

PubMed ID: 3687939

PubMed ID: 6091633

Title: Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system.

PubMed ID: 6091633

DOI: 10.1016/0006-291x(84)90268-7

PubMed ID: 3456607

Title: Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.

PubMed ID: 3456607

DOI: 10.1073/pnas.83.6.1660

PubMed ID: 1848227

Title: Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells.

PubMed ID: 1848227

DOI: 10.1016/s0021-9258(19)67728-8

PubMed ID: 7908905

Title: Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry.

PubMed ID: 7908905

DOI: 10.1016/s0021-9258(19)78077-6

PubMed ID: 9201993

Title: Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide.

PubMed ID: 9201993

DOI: 10.1074/jbc.272.27.16862

PubMed ID: 10781797

Title: Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids.

PubMed ID: 10781797

DOI: 10.1016/s0014-5793(00)01417-4

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 18022370

Title: LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

PubMed ID: 18022370

DOI: 10.1016/j.cell.2007.10.018

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 19279011

Title: Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation.

PubMed ID: 19279011

DOI: 10.1074/jbc.m802790200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21098288

Title: Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

PubMed ID: 21098288

DOI: 10.1073/pnas.1014376107

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24211208

Title: Cholesterol glucosylation is catalyzed by transglucosylation reaction of beta-glucosidase 1.

PubMed ID: 24211208

DOI: 10.1016/j.bbrc.2013.10.145

PubMed ID: 23266198

Title: Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

PubMed ID: 23266198

DOI: 10.1016/j.ymgme.2012.11.010

PubMed ID: 27789271

Title: Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.

PubMed ID: 27789271

DOI: 10.1016/j.ebiom.2016.10.010

PubMed ID: 27378698

Title: Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.

PubMed ID: 27378698

DOI: 10.1093/hmg/ddw185

PubMed ID: 26724485

Title: Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular beta-glucosidases.

PubMed ID: 26724485

DOI: 10.1194/jlr.m064923

PubMed ID: 32144204

Title: Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.

PubMed ID: 32144204

DOI: 10.1074/jbc.ra119.012502

PubMed ID: 33361282

Title: Human glucocerebrosidase mediates formation of xylosyl-cholesterol by beta-xylosidase and transxylosidase reactions.

PubMed ID: 33361282

DOI: 10.1194/jlr.ra120001043

PubMed ID: 12792654

Title: X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.

PubMed ID: 12792654

DOI: 10.1038/sj.embor.embor873

PubMed ID: 15817452

Title: X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease.

PubMed ID: 15817452

DOI: 10.1074/jbc.m502799200

PubMed ID: 16293621

Title: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PubMed ID: 16293621

DOI: 10.1074/jbc.m511110200

PubMed ID: 17139081

Title: Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease.

PubMed ID: 17139081

DOI: 10.1107/s0907444906038303

PubMed ID: 17187079

Title: Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.

PubMed ID: 17187079

DOI: 10.1038/nchembio850

PubMed ID: 8118460

Title: Mutations causing Gaucher disease.

PubMed ID: 8118460

DOI: 10.1002/humu.1380030102

PubMed ID: 8889578

Title: Glucocerebrosidase (Gaucher disease).

PubMed ID: 8889578

DOI: 10.1002/(sici)1098-1004(1996)8:3<207::aid-humu2>3.0.co;2-6

PubMed ID: 10527671

Title: Type 2 Gaucher disease: an expanding phenotype.

PubMed ID: 10527671

DOI: 10.1006/mgme.1999.2918

PubMed ID: 2464926

Title: Characterization of mutations in Gaucher patients by cDNA cloning.

PubMed ID: 2464926

PubMed ID: 2508065

Title: Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

PubMed ID: 2508065

DOI: 10.1093/nar/17.19.7707

PubMed ID: 1974409

Title: Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.

PubMed ID: 1974409

DOI: 10.1111/j.1469-1809.1990.tb00371.x

PubMed ID: 1972019

Title: Sequence of two alleles responsible for Gaucher disease.

PubMed ID: 1972019

DOI: 10.1089/dna.1990.9.233

PubMed ID: 2269438

Title: Prevalent and rare mutations among Gaucher patients.

PubMed ID: 2269438

DOI: 10.1016/0378-1119(90)90264-r

PubMed ID: 1899336

Title: Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.

PubMed ID: 1899336

DOI: 10.1089/dna.1991.10.15

PubMed ID: 1864608

Title: Three unique base pair changes in a family with Gaucher disease.

PubMed ID: 1864608

DOI: 10.1007/bf00200914

PubMed ID: 1487244

Title: Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.

PubMed ID: 1487244

DOI: 10.1007/bf00220082

PubMed ID: 1301953

Title: Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.

PubMed ID: 1301953

DOI: 10.1002/humu.1380010513

PubMed ID: 8432537

Title: Identification of six new Gaucher disease mutations.

PubMed ID: 8432537

DOI: 10.1006/geno.1993.1035

PubMed ID: 7916532

Title: DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.

PubMed ID: 7916532

DOI: 10.1002/ajmg.1320510216

PubMed ID: 8112750

Title: Two new Gaucher disease mutations.

PubMed ID: 8112750

DOI: 10.1007/bf00210614

PubMed ID: 8076951

Title: Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.

PubMed ID: 8076951

DOI: 10.1007/bf00208292

PubMed ID: 7915932

Title: A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.

PubMed ID: 7915932

DOI: 10.1093/hmg/3.5.821

PubMed ID: 7981693

Title: New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

PubMed ID: 7981693

DOI: 10.1093/hmg/3.7.1183

PubMed ID: 8294487

Title: Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

PubMed ID: 8294487

DOI: 10.1016/s0021-9258(17)42166-1

PubMed ID: 8790604

Title: Glucocerebrosidase mutations in Gaucher disease.

PubMed ID: 8790604

DOI: 10.1007/bf03403534

PubMed ID: 7655857

Title: Five new Gaucher disease mutations.

PubMed ID: 7655857

DOI: 10.1006/bcmd.1995.0004

PubMed ID: 8547070

Title: Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).

PubMed ID: 8547070

DOI: 10.1111/j.1365-2141.1995.tb05298.x

PubMed ID: 7627184

Title: Gaucher disease in Spanish patients: analysis of eight mutations.

PubMed ID: 7627184

DOI: 10.1002/humu.1380050406

PubMed ID: 7627192

Title: Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.

PubMed ID: 7627192

DOI: 10.1002/humu.1380050414

PubMed ID: 8598642

Title: Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.

PubMed ID: 8598642

DOI: 10.1007/bf02436006

PubMed ID: 7475546

Title: Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

PubMed ID: 7475546

DOI: 10.1016/s0140-6736(95)91688-1

PubMed ID: 9240741

Title: Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.

PubMed ID: 9240741

DOI: 10.1002/(sici)1096-8628(19961028)65:3<184::aid-ajmg3>3.0.co;2-q

PubMed ID: 8937765

Title: The molecular characterization of Gaucher disease in South Africa.

PubMed ID: 8937765

DOI: 10.1111/j.1399-0004.1996.tb02352.x

PubMed ID: 8829654

Title: Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

PubMed ID: 8829654

DOI: 10.1002/(sici)1098-1004(1996)7:3<214::aid-humu5>3.0.co;2-a

PubMed ID: 8829663

Title: Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

PubMed ID: 8829663

DOI: 10.1002/(sici)1098-1004(1996)7:3<272::aid-humu14>3.0.co;2-#

PubMed ID: 8889591

Title: Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

PubMed ID: 8889591

DOI: 10.1002/(sici)1098-1004(1996)8:3<280::aid-humu15>3.0.co;2-z

PubMed ID: 8780099

Title: Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

PubMed ID: 8780099

DOI: 10.1212/wnl.46.4.1102

PubMed ID: 9182788

Title: Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

PubMed ID: 9182788

DOI: 10.1002/(sici)1096-8628(19970627)70:4<437::aid-ajmg19>3.0.co;2-i

PubMed ID: 9217217

Title: Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients.

PubMed ID: 9217217

DOI: 10.1002/(sici)1096-8628(19970808)71:2<172::aid-ajmg10>3.0.co;2-b

PubMed ID: 9295080

Title: Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.

PubMed ID: 9295080

DOI: 10.1002/(sici)1096-8628(19971003)72:1<77::aid-ajmg16>3.0.co;2-r

PubMed ID: 9279145

Title: Mutation analysis in 46 British and Irish patients with Gaucher's disease.

PubMed ID: 9279145

DOI: 10.1136/adc.77.1.17

PubMed ID: 9153297

Title: Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.

PubMed ID: 9153297

DOI: 10.1172/jci119437

PubMed ID: 9061570

Title: Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

PubMed ID: 9061570

DOI: 10.1023/a:1005313724361

PubMed ID: 9040001

Title: D409H/D409H genotype in Gaucher-like disease.

PubMed ID: 9040001

DOI: 10.1136/jmg.34.2.175

PubMed ID: 9554454

Title: Six new Gaucher disease mutations.

PubMed ID: 9554454

DOI: 10.1159/000040815

PubMed ID: 9683600

Title: Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

PubMed ID: 9683600

DOI: 10.1086/301969

PubMed ID: 9637431

Title: Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.

PubMed ID: 9637431

DOI: 10.1002/(sici)1096-8628(19980616)78:1<92::aid-ajmg19>3.3.co;2-8

PubMed ID: 9856561

Title: Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

PubMed ID: 9856561

DOI: 10.1002/(sici)1096-8628(19981204)80:4<343::aid-ajmg8>3.0.co;2-w

PubMed ID: 9516376

Title: Hematologically important mutations: Gaucher disease.

PubMed ID: 9516376

DOI: 10.1006/bcmd.1998.0165

PubMed ID: 9851895

Title: A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.

PubMed ID: 9851895

DOI: 10.1006/bcmd.1998.0210

PubMed ID: 9650766

Title: A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

PubMed ID: 9650766

DOI: 10.1111/j.1399-0004.1998.tb02697.x

PubMed ID: 9554746

Title: Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

PubMed ID: 9554746

DOI: 10.1002/(sici)1098-1004(1998)11:4<295::aid-humu7>3.0.co;2-6

PubMed ID: 10206680

Title: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient.

PubMed ID: 10206680

DOI: 10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.0.co;2-2

PubMed ID: 10340647

Title: Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.

PubMed ID: 10340647

DOI: 10.1002/(sici)1096-8628(19990604)84:4<334::aid-ajmg5>3.3.co;2-g

PubMed ID: 10360404

Title: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.

PubMed ID: 10360404

DOI: 10.1002/(sici)1096-8628(19990611)84:5<484::aid-ajmg14>3.0.co;2-w

PubMed ID: 10744424

Title: Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

PubMed ID: 10744424

PubMed ID: 10352942

Title: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

PubMed ID: 10352942

DOI: 10.1038/sj.ejhg.5200315

PubMed ID: 10447266

Title: Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients.

PubMed ID: 10447266

DOI: 10.1002/(sici)1098-1004(1999)14:1<88::aid-humu16>3.0.co;2-e

PubMed ID: 10796875

Title: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PubMed ID: 10796875

DOI: 10.1086/302925

PubMed ID: 10649495

Title: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

PubMed ID: 10649495

DOI: 10.1002/(sici)1098-1004(200002)15:2<181::aid-humu7>3.0.co;2-s

PubMed ID: 10679038

Title: Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

PubMed ID: 10679038

DOI: 10.1007/s100240050023

PubMed ID: 11992489

Title: Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

PubMed ID: 11992489

DOI: 10.1002/ajmg.10385

PubMed ID: 11903352

Title: The E326K mutation and Gaucher disease: mutation or polymorphism?

PubMed ID: 11903352

DOI: 10.1034/j.1399-0004.2002.610106.x

PubMed ID: 11933202

Title: The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PubMed ID: 11933202

DOI: 10.1002/humu.9024

PubMed ID: 12204005

Title: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients.

PubMed ID: 12204005

DOI: 10.1002/humu.9058

PubMed ID: 12694238

Title: Glucocerebrosidase mutation T369M appears to be another polymorphism.

PubMed ID: 12694238

DOI: 10.1034/j.1399-0004.2003.00055.x

PubMed ID: 12847165

Title: Gaucher's disease with Parkinson's disease: clinical and pathological aspects.

PubMed ID: 12847165

DOI: 10.1212/01.wnl.0000072482.70963.d7

PubMed ID: 15292921

Title: Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.

PubMed ID: 15292921

DOI: 10.1038/sj.ejhg.5201251

PubMed ID: 15690354

Title: Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.

PubMed ID: 15690354

DOI: 10.1002/ajmg.a.30316

Sequence Information:

  • Length: 536
  • Mass: 59716
  • Checksum: FA1E15684344A0E6
  • Sequence:
    • MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT 
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF 
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD 
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP 
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA 
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK 
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW 
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK 
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

Genular Protein ID: 3848821485

Symbol: B7Z6S9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z6S9

Database IDs:

ARBA 21 Allergome 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 52 DNASU 1 DisGeNET 1 EC 2 EMBL 2 GO 7 Gene3D 1 IntAct 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 3 Rhea 34 RuleBase 1 SAM 1 SUPFAM 2 UniPathway 1

Sequence Information:

  • Length: 621
  • Mass: 68761
  • Checksum: E93D9A5ECE05AB07
  • Sequence:
    • MSDRLFSNPG PAPTPQGCFS RGCGWSGCIL PSESYCAGPQ SPVPPRRLCR LRWDFVLPPV 
GAAVSLRRRD SGTPVVFSSS NDPEGMEFSS PSREECPKPL SRVSIMAGSL TGLLLLQAVS 
WASGARPCIP KSFGYSSVVC VCNATYCDSF DPPTFPALGT FSRYESTRSG RRMELSMGPI 
QANHTGTGLL LTLQPEQKFQ KVKGFGGAMT DAAALNILAL SPPAQNLLLK SYFSEEGIGY 
NIIRVPMASC DFSIRTYTYA DTPDDFQLHN FGLPEEDTKL KIPLIHRALQ LAQRPVSLLA 
SPWTSPTWLK TNGAVNGKGS LKGQPGDIYH QTWARYFVKF LDAYAEHKLQ FWAVTAENEP 
SAGLLSGYPF QCLGFTPEHQ RDFIARDLGP TLANSTHHNV RLLMLDDQRL LLPHWAKVVL 
TDPEAAKYVH GIAVHWYLDF LAPAKATLGE THRLFPNTML FASEACVGSK FWEQSVRLGS 
WDRGMQYSHS IITNLLYHVV GWTDWNLALN PEGGPNWVRN FVDSPIIVDI TKDTFYKQPM 
FYHLGHFSKF IPEGSQRVGL VASQKNDLDA VALMHPDGSA VVVVLNRSSK DVPLTIKDPA 
VGFLETISPG YSIHTYLWRR Q

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.