| Gene Information | |
|---|---|
| Gene Name | GBA3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 469 |
| Protein Names | Cytosolic beta-glucosidase (EC 3.2.1.21) (Cytosolic beta-glucosidase-like protein 1) (Cytosolic galactosylceramidase) (EC 3.2.1.46) (Cytosolic glucosylceramidase) (EC 3.2.1.45) (Cytosolic glycosylceramidase) (Cytosolic GCase) (Glucosidase beta acid 3) (Glucosylceramidase beta 3) (Klotho-related protein) (KLrP) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 454 ( ENSG00000249948 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q9H227 |
| Gene Card | GBA3 |
| Uniprot ID | Q9H227 |
| Pfam | PF00232 |
| In ASD | no |
| Allosteric Prediction | no (-0.331022022) |
| Ortholog in Animals | Alpaca_ GBA3 ( ortholog_one2one ) Dog_ GBA3 ( ortholog_one2one ) GuineaPig_ GBA3 ( ortholog_one2one ) Macaque_ GBA3 ( ortholog_one2one ) Pig_ GBA3 ( ortholog_one2one ) Rabbit_ GBA3 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | LCT, LCTL, KLB, KL |
| Tissue | NA |
| 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. {ECO:0000269|PubMed:11043382, ECO:0000269|PubMed:12594539}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2E9L (X-ray 1.60A ) 2E9M (X-ray 1.80A ) 2JFE (X-ray 2.70A ) 2ZOX (X-ray 1.90A ) 3VKK (X-ray 2.00A ) |
| DBSNP | rs36090352 rs17612341 rs16873108 |
| Subcellular location [CC] | Cytoplasm, cytosol {ECO:0000269|PubMed:12594539, ECO:0000269|PubMed:17595169}. |
| Mouse PG classification | NA |
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