ASMTL: Acetylserotonin O-Methyltransferase Like
A gene encoding a protein with similarity to acetylserotonin O-methyltransferase, involved in melatonin synthesis and linked to X-linked intellectual disability.
Gene Information Card
| Symbol | ASMTL |
|---|---|
| Full Name | Acetylserotonin O-Methyltransferase Like |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.33; Yp11.2 (pseudoautosomal region 1) |
| NCBI Gene ID | 8623 ncbi.nlm.nih.gov/gene/8623 |
| Ensembl ID | ENSG00000169093 |
| UniProt ID | O95671 |
| OMIM ID | 300163 |
| HGNC ID | 754 |
| Aliases | ASMTL1, MGC119173, MGC119174 |
Description
ASMTL (acetylserotonin O-methyltransferase like) is a protein-coding gene located in the pseudoautosomal region 1 (PAR1) of chromosomes X and Y. The encoded protein shares sequence similarity with acetylserotonin O-methyltransferase (ASMT), the final enzyme in melatonin biosynthesis. ASMTL is thought to play a role in melatonin production and has been implicated in X-linked intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in ASMTL may disrupt melatonin synthesis, affecting circadian rhythms and neuronal development. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in ASMTL have been associated with ASD, possibly through altered melatonin levels. | ClinVar, PubMed |
| Attention deficit hyperactivity disorder | Genetic variation in ASMTL may contribute to ADHD risk via circadian dysregulation. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Pituitary gland | 7.1 | Low |
| Retina | 6.9 | Low |
| Adrenal gland | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HepG2 | 4.5 | Hepatocellular carcinoma |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.01% | Reduced enzyme activity |
| c.682G>A (p.Gly228Arg) | Missense | 0.005% | Unknown functional effect |
| c.1000delC (p.Leu334Trpfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, reducing melatonin synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • O-methyltransferase activity | • melatonin biosynthetic process |
| • circadian rhythm | • protein homodimerization activity |
| • S-adenosylmethionine-dependent methyltransferase activity |
Pathways
• Melatonin biosynthesis
• Circadian entrainment
Protein Summary
The ASMTL protein is a 404-amino acid methyltransferase localized in the cytoplasm. It catalyzes the transfer of a methyl group from S-adenosylmethionine to N-acetylserotonin, producing melatonin. The protein is highly expressed in the brain, particularly in the pineal gland and retina, and is involved in circadian rhythm regulation. Mutations in ASMTL are associated with reduced melatonin levels and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASMTL Knockout HEK293 Cell Line | EDJ-KQ50805 | Human | 8623 | Details Get a Quote |
| ASMTL Knockout HeLa Cell Line | EDJ-KQ54957 | Human | 8623 | Details Get a Quote |
| ASMTL Knockout A-549 Cell Line | EDJ-KQ63442 | Human | 8623 | Details Get a Quote |
| ASMTL Knockout HCT 116 Cell Line | EDJ-KQ71910 | Human | 8623 | Details Get a Quote |
