METTL13
Methyltransferase Like 13
Gene Information Card
| Symbol | METTL13 |
|---|---|
| Full Name | Methyltransferase Like 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 79803 ncbi.nlm.nih.gov/gene/79803 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q6P2P2 |
| OMIM ID | 615394 |
| HGNC ID | 26508 |
| Aliases | EEF1AKMT3, METTL13, FLJ22604 |
Description
METTL13 (methyltransferase like 13) encodes a protein that functions as a methyltransferase, specifically catalyzing the methylation of eukaryotic elongation factor 1 alpha (eEF1A) at lysine residues. This modification regulates protein synthesis and is implicated in cellular growth and proliferation. The gene is located on chromosome 1q24.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered METTL13 expression may affect eEF1A methylation, influencing translation and cell proliferation. | COSMIC; literature |
| Neurodevelopmental disorders | Rare variants in METTL13 have been reported in patients with intellectual disability. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | High expression |
| HeLa | 7.9 | Medium expression |
| K562 | 6.5 | Low expression |
| A549 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity | • protein methylation |
| • translation elongation factor activity | • lysine methylation |
Pathways
• Eukaryotic translation elongation
• Protein methylation
Protein Summary
The METTL13 protein is a methyltransferase that specifically methylates lysine residues of eukaryotic elongation factor 1 alpha (eEF1A), thereby modulating translation elongation efficiency. It is involved in cellular growth control and has been implicated in cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL13 Knockout HEK293 Cell Line | EDJ-KQ14241 | Human | 51603 | Details Get a Quote |
| METTL13 Knockout A-549 Cell Line | EDJ-KQ44229 | Human | 51603 | Details Get a Quote |
| METTL13 Knockout HCT 116 Cell Line | EDJ-KQ44230 | Human | 51603 | Details Get a Quote |
| METTL13 Knockout HeLa Cell Line | EDJ-KQ44231 | Human | 51603 | Details Get a Quote |
