Homo sapiens Protein: AANAT
Summary
InnateDB Protein IDBP-245551.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AANAT
Protein Name aralkylamine N-acetyltransferase
Synonyms DSPS; SNAT;
Species Homo sapiens
Ensembl Protein ENSP00000376282
InnateDB Gene IDBG-69711 (AANAT)
Protein Structure
UniProt Annotation
Function Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:11313340}.
Disease Associations Delayed sleep phase syndrome (DSPS) [MIM:614163]: A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. {ECO:0000269PubMed:12736803}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Susceptibility to delayed sleep phase syndrome can be conferred by variant Thr-129. Thr-129 shows a significantly higher frequency in affected individuals than in healthy controls.
Tissue Specificity Highly expressed in pineal gland and at lower levels in the retina. Weak expression in several brain regions and in the pituitary gland. {ECO:0000269PubMed:18212399, ECO:0000269PubMed:8661026}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004059 aralkylamine N-acetyltransferase activity
GO:0008080 N-acetyltransferase activity
Biological Process
GO:0006474 N-terminal protein amino acid acetylation
GO:0007623 circadian rhythm
GO:0030187 melatonin biosynthetic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0046219 indolalkylamine biosynthetic process
GO:0071320 cellular response to cAMP
Cellular Component
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000182 GNAT domain
IPR016181 Acyl-CoA N-acyltransferase
PFAM PF00583
PF13302
PF13508
PF13673
PF13718
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q16613
PhosphoSite PhosphoSite-Q16613
TrEMBL Q9H3T0
UniProt Splice Variant
Entrez Gene 15
UniGene Hs.431417
RefSeq NP_001079
HUGO HGNC:19
OMIM 600950
CCDS CCDS11745
HPRD 02974
IMGT
EMBL AB023794 AB023796 AB023797 AB593119 AC015802 AF360979 BC069434 BC092430 BC126332 BC126334 CH471099 U40347 U40391
GenPept AAC50554 AAC50555 AAH69434 AAH92430 AAI26333 AAI26335 AAK49981 BAB20313 BAB20315 BAB20316 BAJ84059 EAW89400