AANAT (gene)

AANAT
Identifiers
Aliases	AANAT, DSPS, SNAT, aralkylamine N-acetyltransferase
External IDs	OMIM: 600950 MGI: 1328365 HomoloGene: 31013 GeneCards: AANAT
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	76,470,117 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	116,597,680 bp[2]
Gene ontology
Molecular function	• transferase activity; • 14-3-3 protein binding; • arylamine N-acetyltransferase activity; • GO:0001948 protein binding; • transferase activity, transferring acyl groups; • aralkylamine N-acetyltransferase activity;
Cellular component	• cytoplasm; • perinuclear region of cytoplasm; • cytosol;
Biological process	• melatonin biosynthetic process; • response to cytokine; • response to organic cyclic compound; • photoperiodism; • response to copper ion; • rhythmic process; • response to corticosterone; • response to zinc ion; • indolalkylamine biosynthetic process; • response to calcium ion; • response to insulin; • response to prostaglandin E; • circadian rhythm; • N-terminal protein amino acid acetylation; • response to cAMP; • cellular response to cAMP; • response to light stimulus; • response to peptide;
	Sources:Amigo / QuickGO
Orthologs
	15
	11298
	ENSG00000129673
	ENSMUSG00000020804
	Q16613
	O88816
	NM_001088; NM_001166579
	NM_009591
	NP_001079; NP_001160051
	NP_033721
	Wikidata
View/Edit Human	View/Edit Mouse

AANAT is a gene that encodes an enzyme aralkylamine N-acetyltransferase.[5] It is the key regulator of day-night cycle (circadian rhythm). It is found in all animals. In humans it is present on chromosome 17, in chimpanzees chromosome 17, in mouse and sheep chromosome 11, in rat chromosome 10, and in chicken chromosome 18.[6]

Function

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.[5]

Clinical significance

This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome.[5]

References

GRCh38: Ensembl release 89: ENSG00000129673 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020804 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Aralkylamine N-acetyltransferase".
"AANAT". NCBI. Retrieved 2 November 2014.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

External links

Human AANAT genome location and AANAT gene details page in the UCSC Genome Browser.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000129673 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020804 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Aralkylamine N-acetyltransferase".

[6] "AANAT". NCBI. Retrieved 2 November 2014.