ASMT acetylserotonin O-methyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASMTprovided by HGNC
Official Full Name: acetylserotonin O-methyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:750
See related: Ensembl:ENSG00000196433 Ensembl:ENSG00000292336 MIM:300015; MIM:402500; AllianceGenome:HGNC:750
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASMTY; HIOMT; HIOMTY
Summary: This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]
Expression: Ubiquitous expression in ovary (RPKM 1.4), bone marrow (RPKM 1.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: X;Y

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1615059..1643081)
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1615059..1643081)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1416353..1441907)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1478823..1502882)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1714348..1761974)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1664348..1711974)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel signature predicts recurrence risk and therapeutic response in breast cancer patients.
Title: A novel signature predicts recurrence risk and therapeutic response in breast cancer patients.
[Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].", trans "Assotsiatsiya polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh fermenty sinteza melatonina, s riskom razvitiya psikhonevrologicheskikh rasstroistv.
Title: [Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].
The pseudoautosomal region of human X and Y chromosome encoded ASMT protein was predicted to interact with many small molecules than that of interacting proteins.
Title: Bioinformatics Annotation of Human Y Chromosome-Encoded Protein Pathways and Interactions.
Low HIOMT expression is associated with lung cancer.
Title: Restoration of hydroxyindole O-methyltransferase levels in human cancer cells induces a tryptophan-metabolic switch and attenuates cancer progression.
Even when considering only high-grade glioma patients, a low ASMT:CYP1B1 value, which suggests decreased melatonin and enhanced aggressiveness, was strongly associated with poor survival. Overall, our data reveal the prognostic value of the melatonergic system of gliomas and provide insights into the therapeutic role of melatonin.
Title: Melatonergic system-based two-gene index is prognostic in human gliomas.
two single nucleotide polymorphisms (rs4446909 and rs5989681)in the promoter of ASMT do not contribute to the pathogenesis of schizophrenia in Chinese-Han subjects
Title: ASMT gene polymorphisms have no association with schizophrenia in a Han Chinese sample.
results indicate that expression of sleep onset delay relates to melatonin pathway genes.
Title: Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
These data suggest a relationship between decreased mRNA and protein expression levels of ASMT gene and cognitive impairment.
Title: ASMT gene expression correlates with cognitive impairment in patients with recurrent depressive disorder.
Bipolar disorder-associated SNP influences sleep and circadian rhythms in bipolar patients in remission and controls.
Title: An ASMT variant associated with bipolar disorder influences sleep and circadian rhythms: a pilot study.
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
Title: Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXYS155E (e-PCR)
- UniSTS:16658

RH69211 (e-PCR)
- UniSTS:88386

SHGC-5417 (e-PCR)
- UniSTS:64420

RH71197 (e-PCR)
- UniSTS:19674

SHGC-64829 (e-PCR)
- UniSTS:167670

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-methyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables S-methyltransferase activity	TAS Traceable Author Statement more info
enables acetylserotonin O-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylserotonin O-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in indolalkylamine biosynthetic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in melatonin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in melatonin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in melatonin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: acetylserotonin O-methyltransferase

Names: acetylserotonin N-methyltransferase; acetylserotonin methyltransferase (Y chromosome); hydroxyindole O-methyltransferase

NP_001164509.1

EC 2.1.1.4

NP_001164510.1

EC 2.1.1.4

NP_001403454.1

EC 2.1.1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016337.1 RefSeqGene

Range

24605..52627

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001171038.2 → NP_001164509.1 acetylserotonin O-methyltransferase isoform 1

See identical proteins and their annotated locations for NP_001164509.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AK314922, AL683807, BC001620, U11090, U11091

Consensus CDS

CCDS14117.1

Related

ENSP00000370639.3, ENSP00000518608.1, ENST00000381241.9, ENST00000711210.1

Conserved Domains (2) summary

pfam00891
Location:105 → 360

Methyltransf_2; O-methyltransferase

pfam16864
Location:11 → 100

Dimerisation2; Dimerization domain
NM_001171039.1 → NP_001164510.1 acetylserotonin O-methyltransferase isoform 2

See identical proteins and their annotated locations for NP_001164510.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is lacking two consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

BC001620, U11091

Consensus CDS

CCDS55364.1

UniProtKB/TrEMBL

X5D784

Related

ENSP00000370631.3, ENSP00000518606.1, ENST00000381233.8, ENST00000711208.1

Conserved Domains (2) summary

pfam00891
Location:105 → 285

Methyltransf_2; O-methyltransferase

pfam16864
Location:11 → 100

Dimerisation2; Dimerisation domain
NM_001416525.1 → NP_001403454.1 acetylserotonin O-methyltransferase isoform 3

Status: REVIEWED

Source sequence(s)

AL683807

UniProtKB/Swiss-Prot

B2RC33, P46597, Q16598, Q5JQ72, Q5JQ73

UniProtKB/TrEMBL

X5D2A4

Related

ENSP00000370627.4, ENSP00000518607.1, ENST00000381229.9, ENST00000711209.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

1615059..1643081

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

1615059..1643081

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

1416353..1441907

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060948.1 Alternate T2T-CHM13v2.0

Range

1478823..1502882

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_004043.3: Suppressed sequence

Description

NM_004043.3: This RefSeq was removed because currently there is insufficient support for the transcript.