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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]
AANAT (Aralkylamine N-Acetyltransferase) is a Protein Coding gene. Diseases associated with AANAT include Pineocytoma and Alexia. Among its related pathways are Amine-derived hormones and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include N-acetyltransferase activity and arylamine N-acetyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004059 | aralkylamine N-acetyltransferase activity | TAS | -- |
GO:0004060 | arylamine N-acetyltransferase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008080 | N-acetyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0048471 | perinuclear region of cytoplasm | IDA | 11313340 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amine-derived hormones | ||
2 | Metabolism |
.40
|
|
3 | Tryptophan metabolism | ||
4 | Viral mRNA Translation | ||
5 | Biogenic Amine Synthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006474 | N-terminal protein amino acid acetylation | IDA | 11313340 |
GO:0007623 | circadian rhythm | IBA,IMP | 12736803 |
GO:0009416 | response to light stimulus | IBA | 21873635 |
GO:0009648 | photoperiodism | IEA | -- |
GO:0010043 | response to zinc ion | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cannabidiol | Approved, Investigational | Pharma | Target, Enzyme, inhibitor | 0 | ||
n-acetylserotonin | Experimental | Pharma | 0 | |||
tryptamine | Experimental | Pharma | 0 | |||
CoA-S-acetyl 5-bromotryptamine | Experimental | Pharma | Target | 0 | ||
CoA-s-acetyl tryptamine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
5-Methoxytryptamine |
|
608-07-1 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AANAT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aanat 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aanat 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AANAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC618594 30 |
|
||
AANAT 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AANAT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AANAT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AANAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AANAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aanat 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aanat1 30 31 |
|
OneToMany | |
aanat2 31 |
|
OneToMany | |||
zgc73074 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11691 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140194920 | Likely Benign: not provided | 76,469,712(+) |
T/C NM_001088.3(AANAT):c.366T>C (p.His122=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs141006262 | Likely Benign: not provided | 76,468,832(+) |
G/A NM_001088.3(AANAT):c.86G>A (p.Arg29His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs2071031 | Benign: not provided | 76,469,814(+) |
C/T NM_001088.3(AANAT):c.468C>T (p.Ala156=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs28936679 | Uncertain Significance: Sleep-wake schedule disorder, delayed phase type. - | 76,469,731(+) |
G/Ap.Ala129Thr NM_001088.3(AANAT):c.385G>A (p.Ala129Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs58504104 | Benign: not provided | 76,469,889(+) |
C/A NM_001088.3(AANAT):c.543C>A (p.Ile181=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1058263 | CNV | gain | 25217958 |
nsv833549 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pineocytoma |
|
|
alexia |
|
|
delayed sleep phase disorder |
|
|
advanced sleep phase syndrome |
|
|
amegakaryocytic thrombocytopenia, congenital |
|
|