CARNMT1 Carnosine N-Methyltransferase 1
Gene encoding carnosine N-methyltransferase, involved in the biosynthesis of anserine and other methylated dipeptides.
Gene Information Card
| Symbol | CARNMT1 |
|---|---|
| Full Name | Carnosine N-Methyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.32 |
| NCBI Gene ID | 100287944 ncbi.nlm.nih.gov/gene/100287944 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKZ8 |
| OMIM ID | 617184 |
| HGNC ID | 40016 |
| Aliases | C9orf41, FLJ46361, MGC16384 |
Description
CARNMT1 encodes carnosine N-methyltransferase, an enzyme that catalyzes the methylation of carnosine (beta-alanyl-L-histidine) to form anserine (beta-alanyl-1-methyl-L-histidine). This enzyme is involved in the metabolism of histidine-containing dipeptides, which are abundant in skeletal muscle and brain tissues and have antioxidant and buffering properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnosinemia | Deficiency in carnosine degradation due to CARNMT1 dysfunction is not established; primary carnosinemia is linked to CNDP1. | No direct evidence; CARNMT1 role in disease is not well characterized. |
| Muscle disorders | Potential involvement in muscle metabolism via anserine production. | Limited; expression data suggest relevance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 5.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.8 | Low |
| HEK 293 | 1.5 | Low |
| K562 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
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)
| • carnosine N-methyltransferase activity | • methyltransferase activity |
| • S-adenosylmethionine-dependent methyltransferase activity | • metal ion binding |
Pathways
• Histidine metabolism
• beta-Alanine metabolism
Protein Summary
CARNMT1 is a 236-amino acid protein that belongs to the class I-like SAM-dependent methyltransferase superfamily. It localizes to the cytoplasm and is highly expressed in skeletal muscle and heart, where it methylates carnosine to produce anserine, a dipeptide with antioxidant and pH-buffering functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARNMT1 Knockout HEK293 Cell Line | EDJ-KQ9407 | Human | 138199 | Details Get a Quote |
| CARNMT1 Knockout A-549 Cell Line | EDJ-KQ36058 | Human | 138199 | Details Get a Quote |
| CARNMT1 Knockout HCT 116 Cell Line | EDJ-KQ36059 | Human | 138199 | Details Get a Quote |
| CARNMT1 Knockout HeLa Cell Line | EDJ-KQ36060 | Human | 138199 | Details Get a Quote |
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