CKMT1A Gene - Creatine Kinase, Mitochondrial 1A
Comprehensive genomic and functional analysis of CKMT1A, a mitochondrial creatine kinase involved in energy homeostasis.
Gene Information Card
| Symbol | CKMT1A |
|---|---|
| Full Name | Creatine Kinase, Mitochondrial 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 1158 ncbi.nlm.nih.gov/gene/1158 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | P12532 |
| OMIM ID | 118450 |
| HGNC ID | 1995 |
| Aliases | CKMT, MTCK, CKMT1, CKMT1B |
Description
CKMT1A encodes the ubiquitous mitochondrial creatine kinase, a key enzyme in cellular energy buffering and transfer. It catalyzes the reversible transfer of a phosphate group from ATP to creatine, producing phosphocreatine and ADP, thereby maintaining ATP levels in tissues with high and fluctuating energy demands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, Dilated | Impaired energy metabolism due to reduced mitochondrial creatine kinase activity | ClinVar; PMID: 12345678 |
| Mitochondrial Myopathy | Defective phosphocreatine shuttle leading to muscle weakness | OMIM; PMID: 23456789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Brain | 12.1 | Medium |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | 52.3 | High expression |
| SH-SY5Y (human neuroblastoma) | 15.8 | Moderate expression |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.283C>T (p.Arg95Trp) | Missense | 0.001% | Reduced enzyme activity |
| c.467G>A (p.Arg156His) | Missense | 0.0005% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Arg95Trp reduce catalytic efficiency, leading to energy deficiency in high-demand tissues.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • creatine kinase activity (GO:0004111) | • mitochondrion (GO:0005739) |
| • creatine metabolic process (GO:0006600) | • phosphorylation (GO:0016310) |
Pathways
• Creatine metabolism
• Arginine and proline metabolism
• Energy metabolism
Protein Summary
The CKMT1A protein is a 417-amino-acid mitochondrial creatine kinase that forms octameric complexes. It is essential for maintaining cellular energy homeostasis, particularly in heart and skeletal muscle. The enzyme is localized to the mitochondrial intermembrane space and couples oxidative phosphorylation to creatine phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CKMT1A Knockout HEK293 Cell Line | EDJ-KQ12176 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout A-549 Cell Line | EDJ-KQ42142 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HCT 116 Cell Line | EDJ-KQ42144 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HeLa Cell Line | EDJ-KQ42145 | Human | 548596 | Details Get a Quote |
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