Homo sapiens Protein: AANAT | |||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000182
GNAT domain IPR016181 Acyl-CoA N-acyltransferase |
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PFAM |
PF00583
PF13302 PF13508 PF13673 PF13718 |
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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 | ||||||||||||||||||