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_0DHCCM Neomonachus schauinslandi Carnivora LOF (frameshift, premature stop, ss) Full Phocidae 10.1038/s41598-020-68106-y
GL_33IJAU Tursiops truncatus Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41598-020-68106-y
GL_3ZHGMF Pteropus vampyrus Chiroptera LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_764HEY Zalophus californianus Carnivora LOF (frameshift, premature stop, ss) Full Carnivora 10.1038/s41598-020-68106-y
GL_B7ASZQ Heterocephalus glaber Rodentia LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_C9C8VV Pteropus alecto Chiroptera LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_CM08TT Balaena mysticetus Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41598-020-68106-y
GL_FLGEWF Arctocephalus gazella Carnivora LOF (frameshift, premature stop, ss) Full Carnivora 10.1038/s41598-020-68106-y
GL_FWBTM8 Fukomys damarensis Rodentia LOF (frameshift, premature stop, ss) Full No 10.1038/s41598-020-68106-y
GL_FYJLGH Odobenus rosmarus Carnivora LOF (frameshift, premature stop, ss) Full 10.1038/s41598-020-68106-y