ASMT (acetylserotonin O-methyltransferase)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
438
Gene name Gene Name - the full gene name approved by the HGNC.
Acetylserotonin O-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASMT
Synonyms (NCBI Gene) Gene synonyms aliases
ASMTY, HIOMT, HIOMTY
Chromosome Chromosome number
X|Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
X;Y
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300015 N/A HGNC
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease 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