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]
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]
This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. [5]
Aralkylamine N-acetyltransferase (AANAT), also known as arylalkylamine N-acetyltransferase or serotonin N-acetyltransferase (SNAT), is an enzyme that is involved in the day/night rhythmic production of melatonin, by modification of serotonin. It is in humans encoded by the ~2.5 kb AANAT gene containing four exons, located on chromosome 17q25. The gene is translated into a 23 kDa large enzyme. It is well conserved through evolution and the human form of the protein is 80 percent identical to sheep and rat AANAT. It is an acetyl-CoA-dependent enzyme of the GCN5-related family of N-acetyltransferases (GNATs). It may contribute to multifactorial genetic diseases such as altered behavior in sleep/wake cycle and research is on-going with the aim of developing drugs that regulate AANAT function.
Casein kinase I isoform epsilon is an enzyme that in humans is encoded by the CSNK1E gene.
Melatonin receptor type 1A is a protein that in humans is encoded by the MTNR1A gene.
AT-rich interactive domain-containing protein 3B is a protein that in humans is encoded by the ARID3B gene.
Olfactory receptor 52W1 is a protein that in humans is encoded by the OR52W1 gene.
Olfactory receptor 1I1 is a protein that in humans is encoded by the OR1I1 gene.
Olfactory receptor 6C3 is a protein that in humans is encoded by the OR6C3 gene.
Olfactory receptor 6C2 is a protein that in humans is encoded by the OR6C2 gene.
Olfactory receptor 2G6 is a protein that in humans is encoded by the OR2G6 gene.
Heparan-α-glucosaminide N-acetyltransferase is an enzyme that in humans is encoded by the HGSNAT gene.
Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene.
Keratin 79 also known as KRT79 is a protein which humans is encoded by the KRT79 gene.
Histone acetyltransferase 1, also known as HAT1, is an enzyme that, in humans, is encoded by the HAT1 gene.
Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene.
N-acetyltransferase 1 is a protein that in humans is encoded by the NAT1 gene.
Inositol monophosphatase 3 also known as inositol monophosphatase domain-containing protein 1 (IMPAD1) is an enzyme that in humans is encoded by the IMPAD1 gene.
Calcium/calmodulin-dependent protein kinase ID is a protein in humans that is encoded by the CAMK1D gene on chromosome 10.
Germ cell-less, spermatogenesis associated 1 is a protein that in humans is encoded by the GMCL1 gene.
VPS35L is a gene encoding the VPS35 Endosomal Protein Sorting Factor Like protein.
Aldo-keto reductase family 1 member C2, also known as bile acid binding protein, 3α-hydroxysteroid dehydrogenase type 3, and dihydrodiol dehydrogenase type 2, is an enzyme that in humans is encoded by the AKR1C2 gene.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
