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

    Gene ID: 438, updated on 10-Dec-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
    mouse all
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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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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