AANAT
Serotonin N-acetyltransferase
Also known as: SNAT, SNAT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16613
- Gene
- AANAT
- Ensembl
- ENSG00000129673
- Chromosome
- 17
- Canonical length
- 207 aa
- Protein class
- Enzymes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
207 residues, UniProt reviewed canonical sequence.
>Q16613|AANAT
1 MSTQSTHPLK PEAPRLPPGI PESPSCQRRH TLPASEFRCL TPEDAVSAFE IEREAFISVL
61 GVCPLYLDEI RHFLTLCPEL SLGWFEEGCL VAFIIGSLWD KERLMQESLT LHRSGGHIAH
121 LHVLAVHRAF RQQGRGPILL WRYLHHLGSQ PAVRRAALMC EDALVPFYER FSFHAVGPCA
181 ITVGSLTFME LHCSLRGHPF LRRNSGCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AANAT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 10 nTPM
Expression across tissuesHPA
Tissue
- retina: 10 nTPM
- testis: 4.5 nTPM
- choroid plexus: 2.3 nTPM
- appendix: 1.5 nTPM
- lymph node: 1.4 nTPM
- skin: 1.3 nTPM
Single-cell type
- retinal bipolar cells: 176 nCPM
- late spermatids: 50 nCPM
- late primary spermatocytes: 18 nCPM
- early primary spermatocytes: 11 nCPM
- early spermatids: 8.1 nCPM
- undifferentiated spermatogonia: 4.7 nCPM
Immune cell
- basophil: 0.7 nTPM
- eosinophil: 0.5 nTPM
- NK-cell: 0.4 nTPM
- plasmacytoid DC: 0.3 nTPM
- naive B-cell: 0.2 nTPM
- memory B-cell: 0.1 nTPM
Brain region
- thalamus: 6.4 nTPM
- medulla oblongata: 6.3 nTPM
- pons: 5.8 nTPM
- midbrain: 5.6 nTPM
- white matter: 4.9 nTPM
- spinal cord: 4.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.23
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.09
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to cAMP
- circadian rhythm
- indolalkylamine biosynthetic process
- melatonin biosynthetic process
- N-terminal protein amino acid acetylation
- photoperiodism
- response to calcium ion
- response to copper ion
- response to corticosterone
- response to cytokine
- response to insulin
- response to light stimulus
- response to prostaglandin E
- response to zinc ion
Molecular functions
- 14-3-3 protein binding
- arylamine N-acetyltransferase activity
- aralkylamine N-acetyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- GNAT domain
- Acyl-CoA N-acyltransferase
- Acetyltransferase (GNAT) family
- Serotonin N-acetyltransferase-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AANAT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AANAT as an antibody target. Whether an autoantibody or antibody against AANAT could matter depends on whether native AANAT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AANAT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AANAT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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