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

Gene ID: 438, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See ASMT in Genome Data Viewer
Location:
X;Y
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (1615059..1643081)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (1615059..1643081)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1416353..1441907)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1478823..1502882)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1733952..1761974)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1683952..1711974)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1585389-1585889 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1599821-1599989 Neighboring gene hESC enhancers GRCh37_chrX:1600455-1601166 and GRCh37_chrY:1550663-1551162 Neighboring gene P2Y receptor family member 8 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1727169-1727341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:1678358-1678942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:1678943-1679525 Neighboring gene A-kinase anchoring protein 17A Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:1737403-1738040 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrY:1718443-1718962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1776191-1776692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1776693-1777192 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrY:1747612-1748179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:1778143-1778642 Neighboring gene long intergenic non-protein coding RNA 2968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1883833-1884333 Neighboring gene uncharacterized LOC105379413

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1585389-1585889 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1599821-1599989 Neighboring gene hESC enhancers GRCh37_chrX:1600455-1601166 and GRCh37_chrY:1550663-1551162 Neighboring gene P2Y receptor family member 8 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1727169-1727341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:1678358-1678942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:1678943-1679525 Neighboring gene A-kinase anchoring protein 17A Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:1737403-1738040 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrY:1718443-1718962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1776191-1776692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1776693-1777192 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrY:1747612-1748179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrY:1778143-1778642 Neighboring gene long intergenic non-protein coding RNA 2968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1883833-1884333 Neighboring gene uncharacterized LOC105379413

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel signature predicts recurrence risk and therapeutic response in breast cancer patients. Tran QH, et al. Int J Cancer, 2021 Jun 1. PMID 33586202
  2. Localization of hydroxyindole O-methyltransferase-synthesizing cells in bovine epithalamus: immunocytochemistry and in-situ hybridization. Sato T, et al. Cell Tissue Res, 1991 Mar. PMID 1878930
  3. Structural analysis of the human hydroxyindole-O-methyltransferase gene. Presence of two distinct promoters. Rodriguez IR, et al. J Biol Chem, 1994 Dec 16. PMID 7989373
  4. Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders. Yi H, et al. Hum Mol Genet, 1993 Feb. PMID 8098975
  5. Human hydroxyindole-O-methyltransferase: presence of LINE-1 fragment in a cDNA clone and pineal mRNA. Donohue SJ, et al. DNA Cell Biol, 1993 Oct. PMID 8397829

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. [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].
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
NP_001164510.1
NP_001403454.1

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

  1. NG_016337.1 RefSeqGene

    Range
    24605..52627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    1615059..1643081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

    Range
    1615059..1643081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    1416353..1441907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    1478823..1502882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004043.3: Suppressed sequence

    Description
    NM_004043.3: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P46597.1 GenPept UniProtKB/Swiss-Prot:P46597

Gene LinkOut

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