ASMT (acetylserotonin O-methyltransferase)

Gene

• Entrez ID: 438
• Gene name: Acetylserotonin O-methyltransferase
• Gene symbol: ASMT
• Synonyms (NCBI Gene): ASMTY, HIOMT, HIOMTY
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT2176846	hsa-miR-4795-3p	CLIP-seq

Gene ontology (GO)

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
GO:0008171	Function	O-methyltransferase activity	TAS	8397829
GO:0008172	Function	S-methyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0017096	Function	Acetylserotonin O-methyltransferase activity	IBA
GO:0017096	Function	Acetylserotonin O-methyltransferase activity	IDA	22775292
GO:0017096	Function	Acetylserotonin O-methyltransferase activity	IEA
GO:0030187	Process	Melatonin biosynthetic process	IBA
GO:0030187	Process	Melatonin biosynthetic process	IDA	22775292
GO:0030187	Process	Melatonin biosynthetic process	IEA
GO:0032259	Process	Methylation	IBA
GO:0032259	Process	Methylation	IEA
GO:0042802	Function	Identical protein binding	IPI	22775292
GO:0042803	Function	Protein homodimerization activity	IPI	22775292
GO:0046219	Process	Indolalkylamine biosynthetic process	TAS
GO:0046983	Function	Protein dimerization activity	IEA

Other IDs

• MIM: 300015
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• 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:

  MGSSEDQAYRLLNDYANGFMVSQVLFAACELGVFDLLAEAPGPLDVAAVAAGVRASAHGT
  ELLLDICVSLKLLKVETRGGKAFYRNTELSSDYLTTVSPTSQCSMLKYMGRTSYRCWGHL
  ADAVREGRNQYLETFGVPAEELFTAIYRSEGERLQFMQALQEVWSVNGRSVLTAFDLSVF
  PLMCDLGGGAGALAKECMSLYPGCKITVFDIPEVVWTAKQHFSFQEEEQIDFQEGDFFKD
  PLPEADLYILARVLHDWADGKCSHLLERIYHTCKPGGGILVIESLLDEDRRGPLLTQLYS
  LNMLVQTEGQERTPTHYHMLLSSAGFRDFQFKKTGAIYDAILARK

• Sequence length: 345

Pathways

KEGG:

Tryptophan metabolism
Metabolic pathways

Reactome:

Serotonin and melatonin biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASMT-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	33092533	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21615493		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	17505466, 20377855, 21251267, 23349736, 28522826	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	20377855	Inhibit	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17505466, 20377855, 21251267, 22694957, 23349736, 23995775, 28522826, 29255243		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	17505466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17505466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	20377855, 23349736, 23995775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20377855, 23349736	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22694957, 24308489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22694957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24308489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	24881886	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23801861	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	29382152	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22694957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	22694957, 24881886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	24881886	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	14636323	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	23519153		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	23519153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	24881886		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21251267		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20418777		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22694957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	22694957, 24881886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	22694957, 8098975		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28793364		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10831155, 20418777, 26510398		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	20418777		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	10831155, 12701886, 20418777		★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	10831155, 16825954, 20418777		★☆☆☆☆ Found in Text Mining only
Recurrent depressive disorder	Mental Depression	BEFREE	24881886		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10496148, 8752109		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	8752109	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	25059483	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	23801861		★☆☆☆☆ Found in Text Mining only