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

AANAT - aralkylamine N-acetyltransferase Gene

中文名称:芳烷基胺 N-乙酰转移酶

种属: Homo sapiens

同用名: DSPS; SNAT

基因 ID: 15 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于乙酰转移酶超家族。它是褪黑激素合成中的倒数第二个酶,控制脊椎动物松果体中褪黑激素产生的昼夜节律。褪黑激素对于影响活动和睡眠的生物钟功能至关重要。这种酶受 cAMP 依赖性磷酸化的调节,促进其与 14-3-3 蛋白的相互作用,从而保护该酶免受蛋白酶体降解。该基因可能导致许多遗传疾病,例如延迟睡眠期综合症。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 10 月]

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 基因产物(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 蛋白结构

Acetyltransf_1

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

  • 0
  • 100
  • 207 a.a.
蛋白主名 其他名称

serotonin N-acetyltransferase

arylalkylamine N-acetyltransferase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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