AANAT (aralkylamine N-acetyltransferase)

2011-11-01 Affiliation

Identity

HGNC

AANAT

LOCATION

17q25.1

LOCUSID

ALIAS

DSPS,SNAT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 15
MIM: 600950
HGNC: 19
Ensembl: ENSG00000129673

Variants:

dbSNP: 15
ClinVar: 15
TCGA: ENSG00000129673
COSMIC: AANAT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000129673	ENST00000250615	Q16613
ENSG00000129673	ENST00000392492	Q16613
ENSG00000129673	ENST00000392492	F1T0I5
ENSG00000129673	ENST00000585649	K7ESH7
ENSG00000129673	ENST00000587798	K7ERF6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Tryptophan metabolism	KEGG	ko00380
Tryptophan metabolism	KEGG	hsa00380
Metabolic pathways	KEGG	hsa01100
Melatonin biosynthesis, tryptophan => serotonin => melatonin	KEGG	hsa_M00037
Melatonin biosynthesis, tryptophan => serotonin => melatonin	KEGG	M00037
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Amine-derived hormones	REACTOME	R-HSA-209776
Serotonin and melatonin biosynthesis	REACTOME	R-HSA-209931

References

Pubmed ID	Year	Title	Citations
19839995	2009	Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia.	49
20586889	2010	Enhanced production of melatonin by ectopic overexpression of human serotonin N-acetyltransferase plays a role in cold resistance in transgenic rice seedlings.	36
19086053	2009	Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.	34
20377855	2010	Mutation screening of melatonin-related genes in patients with autism spectrum disorders.	33
21778461	2011	Melatonin exerts by an autocrine loop antiproliferative effects in cholangiocarcinoma: its synthesis is reduced favoring cholangiocarcinoma growth.	21
19184136	2009	Examination of association of genes in the serotonin system to autism.	17
18794762	2008	Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese.	16
18794762	2008	Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese.	16
12736803	2003	Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.	12
12736803	2003	Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.	12

Citation

Dessen P

AANAT (aralkylamine N-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52492/aanat-(aralkylamine-n-acetyltransferase)