Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
AANAT aralkylamine N-acetyltransferase	DSPS , SNAT	Homo sapiens	8	protein-coding		2.3.1.87	600950

Summary

The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneOntology

Function (1)

Go ID	Value	Evidence
0071889	enables 14-3-3 protein binding	IEA

Component (4)

Go ID	Value	Evidence
0005737	is_active_in cytoplasm	IBA
0005829	located_in cytosol	IDA
0005829	located_in cytosol	TAS
0048471	located_in perinuclear region of cytoplasm	IDA

Process (17)

Go ID	Value	Evidence
0006474	involved_in N-terminal protein amino acid acetylation	IDA
0071320	involved_in cellular response to cAMP	IDA
0007623	involved_in circadian rhythm	IBA
0007623	involved_in circadian rhythm	IMP
0046219	involved_in indolalkylamine biosynthetic process	TAS
0030187	involved_in melatonin biosynthetic process	IBA
0030187	involved_in melatonin biosynthetic process	IDA
0030187	involved_in melatonin biosynthetic process	IEA
0009648	involved_in photoperiodism	IEA
0051592	involved_in response to calcium ion	IEA
0046688	involved_in response to copper ion	IEA
0051412	involved_in response to corticosterone	IEA
0034097	involved_in response to cytokine	IEA
0032868	involved_in response to insulin	IEA
0009416	involved_in response to light stimulus	IBA
0034695	involved_in response to prostaglandin E	IEA
0010043	involved_in response to zinc ion	IEA

Gene Loss events - AANAT (13 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_QBXXOP	Tursiops truncatus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.3390/genes10020121
GL_UMHIO5	Balaenoptera bonaerensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.3390/genes10020121
GL_Y5NBEA	Balaena mysticetus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.3390/genes10020121