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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CKMT1A
creatine kinase, mitochondrial 1A
Chromosome 15 · 15q15.3
NCBI Gene: 548596Ensembl: ENSG00000223572.11HGNC: HGNC:1995UniProt: P12532
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingcreatine kinase activityphosphocreatine biosynthetic processneurodegenerative diseaseAbnormality of the skeletal systemtype 2 diabetes mellitusneoplasm
✦AI Summary

CKMT1A (creatine kinase, mitochondrial 1A) is a mitochondrial enzyme that catalyzes the reversible phosphoryl transfer between ATP and creatine phosphate, playing a central role in energy homeostasis in tissues with high energy demands 1. The protein localizes to the mitochondrial inner membrane and functions as part of the cellular creatine kinase circuit for ATP buffering 1. Mechanistically, CKMT1A participates in maintaining cellular energetics through the phosphocreatine biosynthetic pathway 1. It is highly expressed in brown adipose tissue alongside uncoupling protein 1, suggesting involvement in both coupled and uncoupled energy expenditure 2. Unlike CKB, CKMT1A silencing does not directly affect F1F0 ATP synthase sensitivity, indicating distinct regulatory roles among creatine kinase isoforms 3. CKMT1A exhibits context-dependent roles in cancer biology. In breast cancer, CKMT1A is highly expressed in primary tumors promoting viability, but downregulated in metastatic lesions where it contributes to invasive phenotype through ROS-mediated mechanisms 4. In endometrial cancer, elevated CKMT1A expression associates with advanced FIGO stages and poor overall survival, suggesting prognostic significance 5. Similarly, in hepatocellular carcinoma, CKMT1A upregulation via the n335586/miR-924 regulatory axis promotes cell migration and invasion 6. Pan-cancer analysis confirms CKMT1A overexpression across most tumor types, with associations to glycolytic and metabolic pathway activation 7.

Sources cited
1
CKMT1A functions in cellular energy homeostasis through the creatine kinase circuit for ATP buffering
PMID: 31991880
2
CKMT1A silencing does not affect F1F0 ATP synthase sensitivity unlike CKB, indicating distinct roles among creatine kinase isoforms
PMID: 38896801
3
CKMT1A is exclusively expressed in brown adipose tissue alongside UCP1 as a modulator of energy expenditure
PMID: 27418403
4
CKMT1A is highly expressed in primary breast tumors but downregulated in metastasis; downregulation increases ROS and promotes invasion
PMID: 38615320
5
CKMT1A is elevated in advanced endometrial cancer stages and associates with poor prognosis
PMID: 35077462
6
CKMT1A is upregulated in hepatocellular carcinoma via n335586/miR-924 axis and promotes migration/invasion
PMID: 29753758
7
CKMT1A is highly expressed across most cancer types and associates with glycolysis/metabolic pathway activation
PMID: 35705641
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.07Suggestive
endometrial cancerOpen Targets
0.07Suggestive
colitisOpen Targets
0.06Suggestive
Parkinson diseaseOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Classical progressive supranuclear palsyOpen Targets
0.03Suggestive
progressive supranuclear palsyOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
nasopharyngeal carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LDHAL6BProtein interaction100%ASB9Protein interaction100%CKMT2Protein interaction75%LDHCProtein interaction75%LDHAL6AProtein interaction75%CKMT1BProtein interaction59%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
3%
Lung
1%
Liver
1%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CKMT1ALDHAL6BASB9CKMT2LDHCLDHAL6ACKMT1B
PROTEIN STRUCTURE
Preparing viewer…
PDB9B14 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.71–1.52]
RankingsWhere CKMT1A stands among ~20K protein-coding genes
  • #4,870of 20,598
    Most Researched98 · top quartile
  • #15,292of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedCKMT1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CKB Promotes Mitochondrial ATP Production by Suppressing Permeability Transition Pore.
PMID: 38896801
Adv Sci (Weinh) · 2024
1.00
2
Context-dependent roles for ubiquitous mitochondrial creatine kinase CKMT1 in breast cancer progression.
PMID: 38615320
Cell Rep · 2024
0.90
3
The Effects of Early-Onset Pre-Eclampsia on Placental Creatine Metabolism in the Third Trimester.
PMID: 31991880
Int J Mol Sci · 2020
0.80
4
CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer.
PMID: 35077462
PLoS One · 2022
0.70
5
LncRNA n335586/miR-924/CKMT1A axis contributes to cell migration and invasion in hepatocellular carcinoma cells.
PMID: 29753758
Cancer Lett · 2018
0.60