NTMT1: N-Terminal Xaa-Pro-Lys Methyltransferase 1
Gene encoding an alpha-N-terminal methyltransferase involved in protein stability and DNA repair
Gene Information Card
| Symbol | NTMT1 |
|---|---|
| Full Name | N-terminal Xaa-Pro-Lys methyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 51129 ncbi.nlm.nih.gov/gene/51129 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9H2H9 |
| OMIM ID | 610345 |
| HGNC ID | 25917 |
| Aliases | METTL11A, NRMT1, C9orf32, METTL11 |
Description
NTMT1 encodes an alpha-N-terminal methyltransferase that catalyzes the trimethylation of the N-terminal residue of proteins starting with an Xaa-Pro-Lys motif. This modification stabilizes proteins, regulates DNA repair pathways, and influences chromatin structure. NTMT1 is ubiquitously expressed and plays a role in cell cycle progression and genome integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal) | Loss of NTMT1 leads to defective DNA double-strand break repair via impaired NHEJ and HR pathways | PMID: 25732826 |
| Microcephaly | NTMT1 mutations cause reduced brain size in model organisms due to mitotic defects | PMID: 25944712 |
| Developmental disorders | Homozygous loss-of-function variants associated with intellectual disability and growth retardation | ClinVar: RCV001851064 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain cortex | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 9.8 | Low expression |
| MCF7 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.202C>T (p.Arg68Trp) | Missense | 0.02% | Reduced methyltransferase activity |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the catalytic domain or start codon abolish methyltransferase activity, leading to defective DNA repair and mitotic errors.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • N-terminal protein amino acid methylation | • methyltransferase activity |
| • protein methyltransferase activity | • nucleus |
| • cytoplasm | • DNA repair |
| • cell cycle |
Pathways
• DNA double-strand break repair via non-homologous end joining
• DNA double-strand break repair via homologous recombination
• Protein methylation
Protein Summary
NTMT1 is a 223-amino acid alpha-N-terminal methyltransferase that trimethylates the N-terminal alpha-amine of proteins with an N-terminal Xaa-Pro-Lys motif. It is essential for proper DNA repair, mitotic progression, and chromatin regulation. The enzyme localizes to the nucleus and cytoplasm, and its loss is associated with genomic instability and developmental defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NTMT1 Knockout HEK293 Cell Line | EDJ-KQ2232 | Human | 28989 | Details Get a Quote |
| NTMT1 Knockout A-549 Cell Line | EDJ-KQ22519 | Human | 28989 | Details Get a Quote |
| NTMT1 Knockout HCT 116 Cell Line | EDJ-KQ22520 | Human | 28989 | Details Get a Quote |
| NTMT1 Knockout HeLa Cell Line | EDJ-KQ22521 | Human | 28989 | Details Get a Quote |
