HEMK1 Gene: Methyltransferase Involved in Protein Synthesis and Cancer
Comprehensive guide to HEMK1 (MTQ1) gene, its function, expression, and clinical significance
Gene Information Card
| Symbol | HEMK1 |
|---|---|
| Full Name | HemK Methyltransferase Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 51409 ncbi.nlm.nih.gov/gene/51409 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q9Y5R4 |
| OMIM ID | 611244 |
| HGNC ID | 17624 |
| Aliases | MTQ1, HEMK, DKFZp686K23112 |
Description
HEMK1 (HemK Methyltransferase Family Member 1) encodes a protein that functions as an N5-glutamine methyltransferase, specifically methylating the glutamine residue of mitochondrial translation release factor 1 (MTRF1L). This modification is essential for proper mitochondrial protein synthesis and release of completed polypeptides. HEMK1 is also implicated in various cancers, where its expression is often dysregulated, affecting tumor progression and patient prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered expression; potential tumor suppressor or oncogene depending on context | Expression studies in various cancers (e.g., breast, lung, colorectal) show dysregulation; functional studies indicate role in cell proliferation and apoptosis |
| Mitochondrial disorders (potential) | Impaired methylation of MTRF1L may affect mitochondrial translation | Inferred from functional studies; direct clinical evidence limited |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.5 | Low |
| Liver | 6.2 | Low |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; high expression |
| A549 | 10.4 | Lung cancer cell line; moderate expression |
| MCF7 | 8.9 | Breast cancer cell line; moderate expression |
| HepG2 | 6.7 | Liver cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; may affect protein expression |
| c.215C>T (p.Pro72Leu) | Missense | Rare | Unknown; possibly damaging |
| c.412G>A (p.Gly138Ser) | Missense | Rare | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are not well characterized; may impair methyltransferase activity, affecting mitochondrial translation and potentially contributing to disease.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity | • protein methyltransferase activity |
| • N5-glutamine methyltransferase activity | • mitochondrion |
| • cytoplasm | • translation release factor complex |
Pathways
• Mitochondrial translation termination
• Protein methylation
Protein Summary
The HEMK1 protein is a 334-amino acid methyltransferase that localizes to mitochondria. It catalyzes the methylation of glutamine residues in mitochondrial translation release factor 1 (MTRF1L), which is crucial for proper termination of mitochondrial protein synthesis. The protein contains a conserved methyltransferase domain and is involved in cellular processes such as proliferation and apoptosis. Its expression is regulated in a tissue-specific manner and is often altered in cancer, suggesting a role in tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEMK1 Knockout HEK293 Cell Line | EDJ-KQ51316 | Human | 51409 | Details Get a Quote |
| HEMK1 Knockout HeLa Cell Line | EDJ-KQ56307 | Human | 51409 | Details Get a Quote |
| HEMK1 Knockout A-549 Cell Line | EDJ-KQ64796 | Human | 51409 | Details Get a Quote |
| HEMK1 Knockout HCT 116 Cell Line | EDJ-KQ73240 | Human | 51409 | Details Get a Quote |
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