CKMT1B
Creatine Kinase, Mitochondrial 1B
Gene Information Card
| Symbol | CKMT1B |
|---|---|
| Full Name | Creatine Kinase, Mitochondrial 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 1159 ncbi.nlm.nih.gov/gene/1159 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | P12532 |
| OMIM ID | 123290 |
| HGNC ID | 1996 |
| Aliases | CKMT, MTCK, U-MtCK, UMTCK |
Description
CKMT1B encodes the ubiquitous mitochondrial creatine kinase (uMtCK), a key enzyme in cellular energy homeostasis. It catalyzes the reversible transfer of a phosphate group from ATP to creatine, generating phosphocreatine and ADP, thereby buffering ATP levels in tissues with high and fluctuating energy demands. The protein is localized to the mitochondrial intermembrane space and forms octameric complexes. CKMT1B is expressed in many tissues, with highest levels in brain, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Altered CKMT1B expression may affect energy metabolism in tumor cells; downregulation observed in some studies. | PMID: 25691885 |
| Colorectal Cancer | Reduced CKMT1B expression linked to metabolic reprogramming and poor prognosis. | PMID: 29227476 |
| Cardiomyopathy | Mitochondrial creatine kinase deficiency can impair cardiac energy reserve; mutations in CKMT1B may contribute. | PMID: 10468589 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 18.7 | High |
| Skeletal Muscle | 15.2 | High |
| Liver | 2.1 | Low |
| Kidney | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Moderate expression |
| HeLa | 5.2 | Low expression |
| SH-SY5Y | 14.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.514C>T (p.Arg172Trp) | Missense | <0.01% | Potential loss of enzyme activity; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; rare variant |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations that disrupt the active site or octamer formation reduce creatine kinase activity, impairing energy buffering.
Gain of Function (GOF)
No gain-of-function mutations reported for CKMT1B.
Dominant Negative (DN)
Mutations that disrupt octamer assembly may exert dominant-negative effects by incorporating mutant subunits into the complex.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Creatine metabolism (Reactome: R-HSA-71291)
• Energy metabolism (KEGG: map00230)
Protein Summary
The CKMT1B protein (uMtCK) is a 417-amino acid mitochondrial creatine kinase that forms homooctamers. It catalyzes phosphocreatine synthesis, providing a rapid ATP buffer. The protein contains a mitochondrial targeting sequence and is essential for high-energy phosphate shuttling. Structural studies show a central channel for substrate access.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CKMT1B Knockout HEK293 Cell Line | EDJ-KQ50193 | Human | 1159 | Details Get a Quote |
| CKMT1B Knockout HeLa Cell Line | EDJ-KQ52915 | Human | 1159 | Details Get a Quote |
| CKMT1B Knockout A-549 Cell Line | EDJ-KQ61382 | Human | 1159 | Details Get a Quote |
| CKMT1B Knockout HCT 116 Cell Line | EDJ-KQ69877 | Human | 1159 | Details Get a Quote |
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