ASMT (acetylserotonin O-methyltransferase)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 438
Gene name Acetylserotonin O-methyltransferase
Gene symbol ASMT
Synonyms (NCBI Gene)
ASMTYHIOMTHIOMTY
Chromosome X|Y
Chromosome location X;Y
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 abund
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT2176846 hsa-miR-4795-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol TAS
GO:0006412 Process Translation TAS 8397829
GO:0006629 Process Lipid metabolic process IEA
GO:0008168 Function Methyltransferase activity IEA
GO:0008171 Function O-methyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300015 N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46597
Protein name Acetylserotonin O-methyltransferase (EC 2.1.1.4) (Hydroxyindole O-methyltransferase) (HIOMT)
Protein function [Isoform 1]: Catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). ; [Isoform 2]: Does not show Acetylserotonin O-methyltransferase activity.
PDB 4A6D , 4A6E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16864 Dimerisation2 11 → 100 Dimerisation domain Domain
PF00891 Methyltransf_2 117 → 327 O-methyltransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the pineal gland (at protein level). In the retina, very low expression is found at the mRNA level (PubMed:7989373), and not at the protein level (PubMed:8574683). {ECO:0000269|PubMed:22775292, ECO:0000269|PubMed:7989373,
Sequence
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Tryptophan metabolism
Metabolic pathways 		  Serotonin and melatonin biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ASMT-related disorder Uncertain significance; Likely benign; Benign rs17149149, rs11346829, rs6588809, rs4933063, rs758073107, rs151095769 RCV003901097
RCV003904714
RCV003904718
RCV003904643
RCV003982502
RCV003892252
Colon adenocarcinoma Conflicting classifications of pathogenicity rs148855515 RCV005927813
Familial cancer of breast Conflicting classifications of pathogenicity rs148855515 RCV005927812
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Associate 33092533
Arrest of spermatogenesis Associate 33092533
Autism Spectrum Disorder Associate 17505466, 20377855, 21251267, 23349736, 28522826
Autism Spectrum Disorder Inhibit 20377855
Autistic Disorder Associate 20377855, 23349736
Bipolar Disorder Associate 24308489
Cognition Disorders Inhibit 24881886
Colitis Lymphocytic Stimulate 29382152
Colitis Ulcerative Associate 23801861
Colitis Ulcerative Stimulate 29382152