NTMT1
Chr 9N-terminal Xaa-Pro-Lys N-methyltransferase 1
Also known as: AD-003, C9orf32, HOMT1A, METTL11A, NRMT, NRMT1, NTM1A
The protein functions as a distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing specific motifs, including key substrates like RCC1, SET, and RB1, and is required for normal bipolar spindle formation and chromosome segregation during mitosis. Based on the tolerance metrics provided (pLI: 0.05, LOEUF: 1.077), this gene appears relatively tolerant to loss-of-function variation, but specific disease associations and inheritance patterns are not established in the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
96 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 29 | 8 | 0 | 37 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 32 | 42 | 1 | 75 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NTMT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools