1. Gene
  2. AANAT - aralkylamine N-acetyltransferase Gene

AANAT - aralkylamine N-acetyltransferase Gene

Homo sapiens

Also known as DSPS; SNAT

Gene ID: 15 | Gene type: protein coding

About AANAT

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,453,351-76,470,117 (from NCBI)

This gene has 4 transcripts (splice variants) and 257 orthologues. Low expression observed in reference dataset.

Summary

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 Products(2)

mRNA Protein Name
NM_001088.3 NP_001079.1 serotonin N-acetyltransferase isoform 2
NM_001166579.2 NP_001160051.1 serotonin N-acetyltransferase isoform 1

AANAT Protein Structure

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (85 - 174)

  • 0
  • 100
  • 207 a.a.
Protein Preferred Names Protein Names

serotonin N-acetyltransferase

arylalkylamine N-acetyltransferase

Related Diseases

Diseases Alias
Schopf-Schulz-Passarge Syndrome

SSPS

Eccrine Tumors With Ectodermal Dysplasia

Eccrine Tumors-Ectodermal Dysplasia

Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis

Delayed Sleep Phase Disorder

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome, Susceptibility To

DSPD

Delayed Sleep Phase Disorder, Susceptibility To

DSPS

Sleep Phase, Delayed, Disorder

Sleep Phase Syndrome, Delayed, Susceptibility To

Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

Scoliosis
Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus AANAT VGNC VGNC:59453
Canis familiaris AANAT VGNC VGNC:37413
Macaca mulatta AANAT VGNC VGNC:69468
Mus musculus AANAT MGD MGI:1328365
Rattus norvegicus AANAT RGD RGD:2006
Others AANAT NCBI