AANAT - aralkylamine N-acetyltransferase Gene

Also Known as DSPS; SNAT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 15

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
Molecular Function GO Annotation Evidence References Source
enables aralkylamine N-acetyltransferase activity IDA
IDA: Inferred from direct assay
11313340 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in N-terminal protein amino acid acetylation IDA
IDA: Inferred from direct assay
11313340 GOA
involved in cellular response to cAMP IDA
IDA: Inferred from direct assay
11313340 GOA
involved in circadian rhythm IMP
IMP: Inferred from mutant phenotype
12736803 GOA
involved in melatonin biosynthetic process IDA
IDA: Inferred from direct assay
11313340 GOA
Cellular Component GO Annotation Evidence References Source
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
11313340 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

AANAT Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AANAT Q16613 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
AANAT Q16613 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
AANAT Q16613 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
AANAT Q16613 GRB10 Homo sapiens Q13322-4 32296183
Intra
AANAT Q16613 GRB10 Homo sapiens Q13322-4 32296183
Intra
AANAT Q16613 EIF4E3 Homo sapiens Q8N5X7-2 32296183
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25910212
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25910212
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25416956
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25416956
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25416956
Intra
AANAT Q16613 BHLHE40 Homo sapiens O14503 25910212
Intra
AANAT Q16613 MDFI Homo sapiens Q99750 25910212
Intra
AANAT Q16613 MDFI Homo sapiens Q99750 25910212
Intra
AANAT Q16613 MDFI Homo sapiens Q99750 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

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