Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
ALDOA aldolase, fructose-bisphosphate A	ALDA , GSD12 , HEL-S-87p	Homo sapiens	11	protein-coding	ALDOB , ALDOC	4.1.2.13	103850

Summary

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]

Knockout

Decreased thigmotaxis, decreased total retina thickness, decreased leukocyte cell number, preweaning lethality, complete penetrance

Mouse Phenotype Database

GeneOntology

Function (1)

Go ID	Value	Evidence
0003723	enables RNA binding	HDA

Component (16)

Go ID	Value	Evidence
0031674	located_in I band	TAS
0031430	located_in M band	IEA
0015629	located_in actin cytoskeleton	IDA
0005829	is_active_in cytosol	IBA
0005829	located_in cytosol	TAS
0070062	located_in extracellular exosome	HDA
0070062	located_in extracellular exosome	IDA
0005576	located_in extracellular region	TAS
0005615	located_in extracellular space	HDA
1904813	located_in ficolin-1-rich granule lumen	TAS
0016020	located_in membrane	HDA
0005634	located_in nucleus	HDA
0031093	located_in platelet alpha granule lumen	TAS
0034774	located_in secretory granule lumen	TAS
0061827	located_in sperm head	IDA
1904724	located_in tertiary granule lumen	TAS

Process (13)

Go ID	Value	Evidence
0006754	involved_in ATP biosynthetic process	IMP
0007015	involved_in actin filament organization	TAS
0007339	involved_in binding of sperm to zona pellucida	IMP
0030388	involved_in fructose 1,6-bisphosphate metabolic process	IBA
0030388	involved_in fructose 1,6-bisphosphate metabolic process	IDA
0006000	involved_in fructose metabolic process	IMP
0006096	involved_in glycolytic process	IBA
0006096	involved_in glycolytic process	IEA
0006096	involved_in glycolytic process	IMP
0046716	involved_in muscle cell cellular homeostasis	IMP
0051289	involved_in protein homotetramerization	ISS
0008360	involved_in regulation of cell shape	IDA
0006941	involved_in striated muscle contraction	IMP

Gene Loss events - ALDOA (27 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_EVMXL6	Balaena mysticetus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_F4SIGQ	Sousa chinensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_FSSXLF	Tursiops aduncus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_HJK14O	Lipotes vexillifer	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_IKIB2Y	Inia geoffrensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_JILYQN	Peponocephala electra	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_JRAX5F	Eubalaena japonica	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_KP3H5D	Pontoporia blainvillei	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_M2YD7X	Balaenoptera physalus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062
GL_NVZQNH	Megaptera novaeangliae	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.05.062