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_HA4N7X Mus musculus Rodentia LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_HDC2BO Delphinapterus leucas Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41598-020-68106-y
GL_HYRSMP Callorhinus ursinus Carnivora LOF (frameshift, premature stop, ss) Full Carnivora 10.1038/s41598-020-68106-y
GL_L0YWRO Leptonychotes weddellii Carnivora LOF (frameshift, premature stop, ss) Full Phocidae 10.1038/s41598-020-68106-y
GL_LDSJOD Balaenoptera acutorostrata Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41598-020-68106-y
GL_LVXK62 Physeter catodon Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41598-020-68106-y
GL_OJYF44 Lycaon pictus Carnivora LOF (frameshift, premature stop, ss) Polymorphic No 10.1038/s41598-020-68106-y
GL_P189JM Loxodonta africana Proboscidea LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_PF3DGE Zalophus wollebaeki Carnivora LOF (frameshift, premature stop, ss) Full 10.1038/s41598-020-68106-y
GL_QIAXBE Eumetopias jubatus Carnivora LOF (frameshift, premature stop, ss) Full Carnivora 10.1038/s41598-020-68106-y