Property Summary

NCBI Gene PubMed Count 29
Grant Count 3
R01 Count 3
Funding $172,114
PubMed Score 249.91
PubTator Score 155.53

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P46597 B2RC33 Q16598 Q5JQ72 Q5JQ73
Symbols ASMTY
HIOMT
HIOMTY

Gene

PANTHER Protein Class (2)

PDB

4A6D   4A6E  

Gene RIF (19)

PMID Text
26154813 two single nucleotide polymorphisms (rs4446909 and rs5989681)in the promoter of ASMT do not contribute to the pathogenesis of schizophrenia in Chinese-Han subjects
25059483 results indicate that expression of sleep onset delay relates to melatonin pathway genes.
24881886 These data suggest a relationship between decreased mRNA and protein expression levels of ASMT gene and cognitive impairment.
24308489 Bipolar disorder-associated SNP influences sleep and circadian rhythms in bipolar patients in remission and controls.
23995775 results support the possible involvement of the ASMT gene in autism spectrum disorders
23349736 ASMT might be a susceptibility gene for autism
22775292 study presents the X-ray crystal structure of ASMT; analysis of nonsynonymous variants found that the majority of these mutations reduced or abolished ASMT activity; estimate the allelic frequency of ASMT deleterious mutations ranges from 0.66% in Europe to 2.97% in Asia
22694957 Rare and common variations in ASMT might play a role in bipolar disorder vulnerability.
21778461 There is dysregulation of the AANAT/ASMT/melatonin --> melatonin receptor axis in cholangiocarcinoma, which inhibited melatonin secretion and subsequently enhanced CCA growth.
21615493 Data found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A.
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AA Sequence

MGSSEDQAYRLLNDYANGFMVSQVLFAACELGVFDLLAEAPGPLDVAAVAAGVRASAHGTELLLDICVSL      1 - 70
KLLKVETRGGKAFYRNTELSSDYLTTVSPTSQCSMLKYMGRTSYRCWGHLADAVREGRNQYLETFGVPAE     71 - 140
ELFTAIYRSEGERLQFMQALQEVWSVNGRSVLTAFDLSVFPLMCDLGGGAGALAKECMSLYPGCKITVFD    141 - 210
IPEVVWTAKQHFSFQEEEQIDFQEGDFFKDPLPEADLYILARVLHDWADGKCSHLLERIYHTCKPGGGIL    211 - 280
VIESLLDEDRRGPLLTQLYSLNMLVQTEGQERTPTHYHMLLSSAGFRDFQFKKTGAIYDAILARK         281 - 345
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Text Mined References (33)

PMID Year Title
26154813 2015 ASMT gene polymorphisms have no association with schizophrenia in a Han Chinese sample.
25833399 2015 Placental melatonin system is present throughout pregnancy and regulates villous trophoblast differentiation.
25059483 2015 Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
24881886 2014 ASMT gene expression correlates with cognitive impairment in patients with recurrent depressive disorder.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24308489 2014 An ASMT variant associated with bipolar disorder influences sleep and circadian rhythms: a pilot study.
23995775 2014 Association between ASMT and autistic-like traits in children from a Swedish nationwide cohort.
23349736 2013 Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
22775292 2013 Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
22694957 2012 Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.
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