Details for: GBA1

Gene ID: 2629

Symbol: GBA1

Ensembl ID: ENSG00000177628

Description: glucosylceramidase beta 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.26
    Marker Score: 2823.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.78
    Marker Score: 1589
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.42
    Marker Score: 2481
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.16
    Marker Score: 7064
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.11
    Marker Score: 610
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.04
    Marker Score: 708
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.03
    Marker Score: 729
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 487
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.91
    Marker Score: 1216
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2720
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4967
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5259
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.85
    Marker Score: 1380
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.82
    Marker Score: 20952
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.82
    Marker Score: 3203
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.8
    Marker Score: 1236
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.79
    Marker Score: 320
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.79
    Marker Score: 328
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.78
    Marker Score: 2452.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.76
    Marker Score: 1098
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 575
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.74
    Marker Score: 3084
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 647
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.7
    Marker Score: 6033
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.69
    Marker Score: 7963
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2844
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 0.67
    Marker Score: 409
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.67
    Marker Score: 768
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.65
    Marker Score: 646
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.64
    Marker Score: 39505
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.63
    Marker Score: 35307
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.63
    Marker Score: 312
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.62
    Marker Score: 3966
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.62
    Marker Score: 193
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.62
    Marker Score: 1449
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.61
    Marker Score: 264
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.6
    Marker Score: 171
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.6
    Marker Score: 5728
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.6
    Marker Score: 194
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.6
    Marker Score: 1492
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.58
    Marker Score: 606
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.58
    Marker Score: 171
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.58
    Marker Score: 1230
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.58
    Marker Score: 703
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.58
    Marker Score: 722
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.57
    Marker Score: 909
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.57
    Marker Score: 357
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.56
    Marker Score: 451
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.56
    Marker Score: 161
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 435
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.53
    Marker Score: 230
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.53
    Marker Score: 1025
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.53
    Marker Score: 2265
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.52
    Marker Score: 1372
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.51
    Marker Score: 114
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.51
    Marker Score: 266
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.5
    Marker Score: 412
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.5
    Marker Score: 2964
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.5
    Marker Score: 789
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.5
    Marker Score: 361
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.49
    Marker Score: 302
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.49
    Marker Score: 1208.5
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.49
    Marker Score: 820
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.48
    Marker Score: 238
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.47
    Marker Score: 255
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.47
    Marker Score: 312
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.47
    Marker Score: 317
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.47
    Marker Score: 124
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.46
    Marker Score: 908
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.46
    Marker Score: 1182
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.45
    Marker Score: 291
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.45
    Marker Score: 286
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.45
    Marker Score: 208
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.44
    Marker Score: 203
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.44
    Marker Score: 111
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.43
    Marker Score: 1675
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 418
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.43
    Marker Score: 137
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.42
    Marker Score: 276
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.42
    Marker Score: 229
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.41
    Marker Score: 93
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.41
    Marker Score: 664.5
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.41
    Marker Score: 298
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.41
    Marker Score: 273.5
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.41
    Marker Score: 247
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.4
    Marker Score: 85
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.4
    Marker Score: 405
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.4
    Marker Score: 3738
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.4
    Marker Score: 287
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.39
    Marker Score: 97
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.39
    Marker Score: 292
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.38
    Marker Score: 701
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.38
    Marker Score: 99
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 216

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Other Information

**Key characteristics:** - The protein is a glycoprotein with a molecular weight of approximately 120 kDa. - It is a transmembrane protein that is expressed on the surface of cells. - It is a glucosylceramidase, which is an enzyme that catalyzes the hydrolysis of galactosylceramide to galactose and galactose-1-phosphate. **Pathways and functions:** - The GBA1 gene is involved in multiple pathways and functions, including: - Association of tric/cct with target proteins during biosynthesis - Chaperonin-mediated protein folding - Galactosylceramidase activity - Glucosylceramide catabolic process - Glycosphingolipid catabolism - Sphingolipid metabolism - It plays a role in the regulation of cell growth, differentiation, and apoptosis. - It is involved in the maintenance of tissue integrity and the prevention of cancer. **Clinical significance:** - Mutations in the GBA1 gene have been linked to the development of several human diseases, including: - Tay-Sachs disease, an inherited disorder caused by a deficiency in galactosylceramide 1-phosphate synthase (GALC1) - Non-alcoholic steatohepatitis, a progressive liver disease characterized by the accumulation of fat in the liver - Colorectal cancer **Conclusion:** The GBA1 gene is a key regulator of galactosylceramide metabolism, and its dysfunction can lead to various diseases. Understanding the role of GBA1 in human health is important for the development of novel therapeutic strategies for these disorders.

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 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 63 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 14 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 50 PDBsum 42 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 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 22 Allergome 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 52 DNASU 1 EC 2 EMBL 2 GO 6 Gene3D 1 Genevisible 1 GenomeRNAi 1 IntAct 1 InterPro 4 MaxQB 1 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. For the full schema, download it here.