GBA3
gene geneOn this page
Also known as GLUCKLrPCBGL1
Summary
GBA3 (glucosylceramidase beta 3 (gene/pseudogene), HGNC:19069) is a protein-coding gene on chromosome 4p15.2, encoding Cytosolic beta-glucosidase (Q9H227). Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides.
The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 57733 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 76 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19069 |
| Approved symbol | GBA3 |
| Name | glucosylceramidase beta 3 (gene/pseudogene) |
| Location | 4p15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUC, KLrP, CBGL1 |
| Ensembl gene | ENSG00000249948 |
| Ensembl biotype | protein_coding |
| OMIM | 606619 |
| Entrez | 57733 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding_LoF, 2 protein_coding_CDS_not_defined
ENST00000503442, ENST00000504802, ENST00000508166, ENST00000508264, ENST00000511446
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000503442 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002048286 | 22692925 | 22693073 |
| ENSE00002079285 | 22818721 | 22819575 |
| ENSE00003503716 | 22735981 | 22736208 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 99.77.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0484 / max 558.3957, expressed in 43 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47083 | 0.4864 | 32 |
| 47084 | 0.2873 | 27 |
| 47082 | 0.1194 | 14 |
| 47085 | 0.0594 | 14 |
| 47088 | 0.0487 | 6 |
| 47086 | 0.0430 | 14 |
| 47081 | 0.0041 | 2 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.77 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.64 | gold quality |
| duodenum | UBERON:0002114 | 95.30 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.46 | gold quality |
| liver | UBERON:0002107 | 94.26 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.89 | gold quality |
| renal medulla | UBERON:0000362 | 93.47 | gold quality |
| adult organism | UBERON:0007023 | 92.21 | gold quality |
| kidney | UBERON:0002113 | 88.92 | gold quality |
| nephron tubule | UBERON:0001231 | 87.08 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.65 | gold quality |
| small intestine | UBERON:0002108 | 86.64 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.52 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.39 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.28 | gold quality |
| gall bladder | UBERON:0002110 | 81.93 | gold quality |
| jejunum | UBERON:0002115 | 81.37 | gold quality |
| colonic mucosa | UBERON:0000317 | 81.03 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.02 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 80.57 | gold quality |
| cortex of kidney | UBERON:0001225 | 80.43 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 78.44 | gold quality |
| renal glomerulus | UBERON:0000074 | 77.35 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 76.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.15 | gold quality |
| metanephros | UBERON:0000081 | 74.84 | gold quality |
| right uterine tube | UBERON:0001302 | 72.32 | gold quality |
| spleen | UBERON:0002106 | 72.02 | gold quality |
| rectum | UBERON:0001052 | 69.59 | gold quality |
| transverse colon | UBERON:0001157 | 69.37 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 17.16 |
| E-ANND-3 | yes | 9.36 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 7)
- The positioning of a substrate molecule (quercetin-4’-glucoside) by homology modelling revealed that hydrophobic interactions dominate the binding of the aglycone moiety. (PMID:17555766)
- The crystal structure of a covalent intermediate of the KLrP mutant E165Q, in which glucose was covalently bound to a nucleophile, Glu(373), is reported. (PMID:18662675)
- No correlation was observed between GBA3 1368A/T haplotypes and severity of type 1 Gaucher disease manifestation (PMID:20728381)
- cytosolic GBA3 is likely involved in the catabolism of cytosolic sialyl free N-glycans, possibly by stabilizing the activity of the NEU2 protein (PMID:26193330)
- Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients. (PMID:32412773)
- GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. (PMID:32665690)
- GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription. (PMID:38428407)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gba3 | ENSDARG00000031150 |
| rattus_norvegicus | Gba3 | ENSRNOG00000024634 |
| drosophila_melanogaster | CG9701 | FBGN0036659 |
| caenorhabditis_elegans | WBGENE00016848 | |
| caenorhabditis_elegans | WBGENE00017103 |
Paralogs (4): LCT (ENSG00000115850), KL (ENSG00000133116), KLB (ENSG00000134962), LCTL (ENSG00000188501)
Protein
Protein identifiers
Cytosolic beta-glucosidase — Q9H227 (reviewed: Q9H227)
Alternative names: Cytosolic beta-glucosidase-like protein 1, Cytosolic galactosylceramidase, Cytosolic glucosylceramidase, Cytosolic glycosylceramidase, Glucosidase beta acid 3, Glucosylceramidase beta 3, Klotho-related protein
All UniProt accessions (0):
UniProt curated annotations — full annotation on UniProt →
Function. Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides. Has a significant glucosylceramidase activity in vitro. However, that activity is relatively low and its significance in vivo is not clear. Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs. However, the in vivo relevance of these activities is unclear. It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics. Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1’)-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor. Could also play a role in the catabolism of cytosolic sialyl free N-glycans.
Subunit / interactions. May interact with NEU2.
Subcellular location. Cytoplasm. Cytosol.
Tissue specificity. Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.
Post-translational modifications. The N-terminus is blocked.
Activity regulation. Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside. Inhibited by sodium taurocholate. Inhibited by alpha-1-C-nonyl-DIX/AnDIX. The glucosylceramidase activity is slightly inhibited by conduritol B epoxide/CBE while the galactosylceramidase activity is not.
Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 456 in the reference genome, leading to the synthesis of a truncated protein lacking enzymatic activity in vitro. The sequence shown in this entry is that of variant p.Ter456Tyr, which has a frequency of about 88% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2) and gives rise to a fully active beta-glucosidase.
Similarity. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H227-1 | 1 | yes |
| Q9H227-2 | 2 |
RefSeq proteins (0): (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001360 | Glyco_hydro_1 | Family |
| IPR017853 | GH_hydrolase_sf | Homologous_superfamily |
| IPR033132 | GH_1_N_CS | Conserved_site |
Pfam: PF00232
Enzyme classification (BRENDA):
- EC 3.2.1.21 — beta-glucosidase (BRENDA: 355 organisms, 1036 substrates, 816 inhibitors, 1052 Km, 608 kcat entries)
Substrate kinetics (BRENDA)
188 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CELLOBIOSE | 0.002–200 | 149 |
| 4-NITROPHENYL BETA-D-GLUCOPYRANOSIDE | 0.006–68 | 134 |
| 4-NITROPHENYL-BETA-D-GLUCOPYRANOSIDE | 0.001–10.34 | 121 |
| P-NITROPHENYL-BETA-D-GLUCOPYRANOSIDE | 0.007–12 | 34 |
| 2-NITROPHENYL BETA-D-GLUCOPYRANOSIDE | 0.023–6.6 | 33 |
| DHURRIN | 0.031–2 | 24 |
| SALICIN | 0.12–37.14 | 24 |
| 4-NITROPHENYL BETA-D-GLUCOSIDE | 0.114–6.09 | 19 |
| 4-NITROPHENYL-BETA-D-FUCOSIDE | 0.12–2.7 | 19 |
| GENTIOBIOSE | 0.21–100 | 18 |
| 4-NITROPHENYL-BETA-D-GALACTOSIDE | 0.11–16.6 | 15 |
| 4-NITROPHENYL BETA-D-FUCOPYRANOSIDE | 0.14–5 | 14 |
| 4-NITROPHENYL-BETA-D-GALACTOPYRANOSIDE | 0.23–10.2 | 13 |
| 4-NITROPHENYL BETA-D-GALACTOPYRANOSIDE | 0.64–17.6 | 12 |
| CELLOTRIOSE | 0.0468–39 | 12 |
Catalyzed reactions (Rhea), 7 shown:
- a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose (RHEA:13269)
- a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose (RHEA:14297)
- beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-galactose (RHEA:43908)
- beta-D-glucosyl-(1<->1)-N-octadecanoylsphing-4-enine + H2O = N-octadecanoylsphing-4-enine + D-glucose (RHEA:59284)
- beta-D-glucosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-glucose (RHEA:59288)
- beta-D-galactosyl-(1<->1’)-N-octadecanoylsphing-4-enine + H2O = N-octadecanoylsphing-4-enine + D-galactose (RHEA:59292)
- a beta-D-xylosyl-(1<->1’)-N-acylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-xyloside + an N-acylsphing-4-enine (RHEA:70239)
UniProt features (68 total): helix 22, strand 16, mutagenesis site 7, binding site 6, sequence variant 5, sequence conflict 5, turn 3, active site 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2E9L | X-RAY DIFFRACTION | 1.6 |
| 2E9M | X-RAY DIFFRACTION | 1.8 |
| 2ZOX | X-RAY DIFFRACTION | 1.9 |
| 3VKK | X-RAY DIFFRACTION | 2 |
| 2JFE | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H227-F1 | 97.30 | 0.97 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 165 (proton donor); 373 (nucleophile)
Ligand- & substrate-binding residues (6): 17; 120; 164; 309; 417; 424–425
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 165 | 2-fold decreased glucosylceramidase activity. |
| 165 | loss of glucosylceramidase activity. |
| 168 | no change in temperature or ph dependence. decreased glucosidase activity. |
| 225 | decreased glucosidase activity. |
| 308 | decreased glucosidase activity. |
| 373 | 2-fold decreased glucosylceramidase activity. |
| 373 | loss of glucosylceramidase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9840310 | Glycosphingolipid catabolism |
MSigDB gene sets: 64 (showing top):
GOBP_CERAMIDE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_CATABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLYCOLIPID_CATABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_PROTEIN_STABILIZATION, CAIRO_HEPATOBLASTOMA_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_HP_UP, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_LIPID_METABOLIC_PROCESS
GO Biological Process (8): glucosylceramide catabolic process (GO:0006680), galactosylceramide catabolic process (GO:0006683), oligosaccharide catabolic process (GO:0009313), glycoside catabolic process (GO:0016139), glycosylceramide catabolic process (GO:0046477), glycosphingolipid catabolic process (GO:0046479), protein stabilization (GO:0050821), beta-glucoside catabolic process (GO:1901805)
GO Molecular Function (5): galactosylceramidase activity (GO:0004336), glucosylceramidase activity (GO:0004348), beta-galactosidase activity (GO:0004565), beta-glucosidase activity (GO:0008422), glycosylceramidase activity (GO:0017042)
GO Cellular Component (3): cytosol (GO:0005829), membrane (GO:0016020), catalytic complex (GO:1902494)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycosphingolipid metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycosylceramide catabolic process | 2 |
| glycosylceramidase activity | 2 |
| cellular anatomical structure | 2 |
| glucosylceramide metabolic process | 1 |
| galactosylceramide metabolic process | 1 |
| galactolipid catabolic process | 1 |
| oligosaccharide metabolic process | 1 |
| carbohydrate catabolic process | 1 |
| glycoside metabolic process | 1 |
| glycosyl compound catabolic process | 1 |
| glycosylceramide metabolic process | 1 |
| glycosphingolipid catabolic process | 1 |
| ceramide catabolic process | 1 |
| glycosphingolipid metabolic process | 1 |
| glycolipid catabolic process | 1 |
| sphingolipid catabolic process | 1 |
| regulation of protein stability | 1 |
| glycoside catabolic process | 1 |
| galactosidase activity | 1 |
| glucosidase activity | 1 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDCL3 | GBA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GBA3 | PRKCSH | psi-mi:“MI:0915”(physical association) | 0.370 |
| GBA3 | DIRAS1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): GBA3 (Two-hybrid), GBA3 (Affinity Capture-MS), GBA3 (Affinity Capture-MS), GBA3 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), DIRAS1 (Affinity Capture-MS), PDCL (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), GLG1 (Cross-Linking-MS (XL-MS)), PRKCSH (Two-hybrid)
ESM2 similar proteins: A0AAW1I778, A2SY66, A3BMZ5, A3C053, B7F8N7, B8AVF0, B9FHH2, E3W9M3, O64879, O64882, P26205, P97265, Q0DA21, Q0J0G1, Q0J0N4, Q2QSR8, Q339X2, Q3ECS3, Q5JK35, Q5N863, Q5RF65, Q5Z9Z0, Q682B4, Q75W17, Q7F9K4, Q7XKV2, Q7XKV4, Q7XKV5, Q7XPY7, Q7XSK0, Q84YK7, Q8GRX1, Q8GU20, Q8L7J2, Q8RZL1, Q95X01, Q9FH03, Q9FIU7, Q9FIW4, Q9FLU8
Diamond homologs: A2SY66, A3BMZ5, A3RF67, A5IUX8, A6U3R9, A7X569, B6ZKM3, B6ZKM4, B6ZKN1, B8AVF0, B9K7M5, C7N8L9, D5MTF8, E4Q361, O05508, O48779, O64879, O64883, O80690, P09848, P09849, P0C946, P10482, P12614, P22073, P22505, P26208, P38645, P42403, P67767, P94248, P97265, Q00326, Q02401, Q03506, Q08638, Q0DA21, Q0J0G2, Q0J0N4, Q1XH04
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1565 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:22735977:TCA:T | acceptor_loss | 1.0000 |
| 4:22735980:G:GT | acceptor_loss | 1.0000 |
| 4:22735980:GGA:G | acceptor_gain | 1.0000 |
| 4:22748063:G:T | donor_gain | 1.0000 |
| 4:22748831:TTTTA:T | acceptor_loss | 1.0000 |
| 4:22748832:TTTA:T | acceptor_loss | 1.0000 |
| 4:22748833:TTAG:T | acceptor_loss | 1.0000 |
| 4:22748834:TA:T | acceptor_loss | 1.0000 |
| 4:22748835:A:AG | acceptor_gain | 1.0000 |
| 4:22748835:AGGAT:A | acceptor_loss | 1.0000 |
| 4:22748836:G:GA | acceptor_loss | 1.0000 |
| 4:22748836:G:GG | acceptor_gain | 1.0000 |
| 4:22748923:G:GT | donor_gain | 1.0000 |
| 4:22748948:G:GT | donor_gain | 1.0000 |
| 4:22803295:GCCTA:G | donor_gain | 1.0000 |
| 4:22693071:AAGG:A | donor_loss | 0.9900 |
| 4:22693072:AGGTA:A | donor_loss | 0.9900 |
| 4:22693074:G:C | donor_loss | 0.9900 |
| 4:22693075:T:G | donor_loss | 0.9900 |
| 4:22710282:G:GG | donor_gain | 0.9900 |
| 4:22735979:A:AG | acceptor_gain | 0.9900 |
| 4:22735979:AGGAG:A | acceptor_gain | 0.9900 |
| 4:22735980:G:GG | acceptor_gain | 0.9900 |
| 4:22735980:GGAGG:G | acceptor_gain | 0.9900 |
| 4:22736103:G:GT | donor_gain | 0.9900 |
| 4:22736160:T:A | acceptor_gain | 0.9900 |
| 4:22748063:G:GT | donor_gain | 0.9900 |
| 4:22748835:AG:A | acceptor_gain | 0.9900 |
| 4:22748836:GG:G | acceptor_gain | 0.9900 |
| 4:22748836:GGAT:G | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS10000431 (4:22784411 T>C), RS1000048890 (4:22729596 C>T), RS1000068155 (4:22802848 A>C), RS1000079017 (4:22739911 C>T), RS1000093634 (4:22778684 C>T), RS1000110695 (4:22698195 G>T), RS1000121190 (4:22695526 G>A), RS1000125196 (4:22802721 A>G,T), RS1000142216 (4:22712461 T>G), RS1000155866 (4:22778771 T>A), RS1000225757 (4:22772793 A>C,G), RS1000231772 (4:22720931 C>G,T), RS1000233173 (4:22812743 G>A), RS1000262062 (4:22727214 A>G), RS1000328718 (4:22755082 T>TG)
Disease associations
OMIM: gene MIM:606619 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002682_6 | Tourette’s syndrome or obsessive-compulsive disorder | 9.000000e-06 |
| GCST002932_8 | Manganese levels | 6.000000e-06 |
| GCST003152_3 | White matter lesion progression (adjusted for white matter lesion burden at baseline) | 2.000000e-06 |
| GCST005025_6 | Anti-saccade response | 2.000000e-06 |
| GCST005790_91 | Rosacea symptom severity | 4.000000e-06 |
| GCST005926_1 | Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma | 8.000000e-07 |
| GCST006249_42 | Serum metabolite levels | 3.000000e-17 |
| GCST007844_6 | Ankylosing spondylitis | 7.000000e-06 |
| GCST009391_974 | Metabolite levels | 6.000000e-07 |
| GCST009391_990 | Metabolite levels | 4.000000e-06 |
| GCST009733_234 | Urinary metabolite levels in chronic kidney disease | 1.000000e-30 |
| GCST009733_52 | Urinary metabolite levels in chronic kidney disease | 2.000000e-27 |
| GCST009733_53 | Urinary metabolite levels in chronic kidney disease | 2.000000e-14 |
| GCST009733_54 | Urinary metabolite levels in chronic kidney disease | 2.000000e-38 |
| GCST009735_42 | Urinary metabolite modules (eigenmetabolites) in chronic kidney disease | 2.000000e-30 |
| GCST011983_5 | Fasting glucose | 7.000000e-07 |
| GCST012020_99 | Serum metabolite levels | 2.000000e-27 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007746 | white matter lesion progression measurement |
| EFO:0006874 | antisaccade response measurement |
| EFO:0009180 | rosacea severity measurement |
| EFO:0005843 | cortisol measurement |
| EFO:0009175 | response to synacthen |
| EFO:0010538 | taurocholate measurement |
| EFO:0010475 | deoxycholate measurement |
| EFO:0005116 | urinary metabolite measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3865 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 4,739 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL307429 | DUVOGLUSTAT | 2 | 4,739 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 4 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.70 | IC50 | 2000 | nM | CHEMBL2029773 |
PubChem BioAssay actives
1 with measured affinity, of 63 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2R,3S,4S,5R)-2-(2-octylsulfanylethyl)piperidine-3,4,5-triol;hydrochloride | 662919: Inhibition of human cytosolic beta-glucosidase using 4-methylumbelliferyl beta-D-glucopyranoside as substrate after 15 mins by fluorimetric analysis | ic50 | 2.0000 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects methylation | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| belinostat | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Chenodeoxycholic Acid | decreases expression, affects cotreatment | 1 |
| Deoxycholic Acid | decreases expression, affects cotreatment | 1 |
| Estradiol | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tartrazine | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
14 unique, capped per target: 14 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1007694 | Binding | Inhibition of beta-glucosidase | Iminosugar-producing Thai medicinal plants. — J Nat Prod |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ankylosing spondylitis