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