Reference Gene
Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
---|---|---|---|---|---|---|---|
GBA3 glucosylceramidase beta 3 (gene/pseudogene) | CBG , GLUC , KLRP , CBGL1 | Homo sapiens | 6 | protein-coding | LCTL , KLB , KL , LCT | 3.2.1.21 , 3.2.1.45 , 3.2.1.46 | 606619 |
Summary
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. [provided by RefSeq, Apr 2022]
GeneOntology
Gene Loss events - GBA3 (27 results)
GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
---|---|---|---|---|---|---|
GL_RLL0XZ | Mirounga angustirostris | Carnivora | LOF (frameshift, premature stop, ss) | Full | Phocidae | 10.1038/s41598-020-68106-y |
GL_TKLUBP | Orcinus orca | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41598-020-68106-y |
GL_TVCBXL | Trichechus manatus latirostris | Sirenia | LOF (frameshift, premature stop, ss) | Full | No | 10.1038/s41598-020-68106-y |
GL_VEZVKJ | Lipotes vexillifer | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41598-020-68106-y |
GL_WBRFMZ | Desmodus rotundus | Chiroptera | LOF (frameshift, premature stop, ss) | Full | No | 10.1038/s41598-020-68106-y |
GL_YKZE9M | Vulpes vulpes | Carnivora | LOF (frameshift, premature stop, ss) | Polymorphic | Carnivora | 10.1038/s41598-020-68106-y |
GL_ZAGWNV | Homo sapiens | Primates | LOF (frameshift, premature stop, ss) | Polymorphic | No | 10.1038/s41598-020-68106-y |