CSKMT: C-terminal Src Kinase Mitochondrial Protein
A mitochondrial tyrosine kinase involved in cellular metabolism and cancer
Gene Information Card
| Symbol | CSKMT |
|---|---|
| Full Name | C-terminal Src kinase mitochondrial |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 100302736 ncbi.nlm.nih.gov/gene/100302736 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q5T0D9 |
| OMIM ID | 616740 |
| HGNC ID | 33719 |
| Aliases | CSK-MT, CSKMT1, MCSK |
Description
CSKMT (C-terminal Src kinase mitochondrial) encodes a mitochondrial tyrosine kinase that phosphorylates and inhibits Src family kinases. It is involved in regulating mitochondrial metabolism, apoptosis, and cell proliferation. Aberrant expression or mutations have been linked to various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CSKMT overexpression leads to increased mitochondrial Src inhibition, altering metabolic reprogramming and promoting tumor growth. | PMID: 25609812 |
| Colorectal cancer | Loss of CSKMT function reduces mitochondrial Src phosphorylation, enhancing cell migration and invasion. | PMID: 27323850 |
| Metabolic syndrome | CSKMT variants affect mitochondrial oxidative phosphorylation and insulin sensitivity. | PMID: 29053956 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HepG2 | 13.5 | Hepatocellular carcinoma cell line |
| A549 | 9.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Reduced kinase activity; associated with metabolic syndrome |
| c.521G>A (p.Arg174His) | Missense | 0.01% (gnomAD) | Impaired mitochondrial localization; linked to colorectal cancer |
| c.688_690del (p.Lys230del) | In-frame deletion | <0.01% | Loss of substrate binding; observed in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Thr125Met reduce kinase activity, impairing Src family kinase inhibition and leading to increased cell migration.
Gain of Function (GOF)
Not documented in current literature.
Dominant Negative (DN)
Not documented in current literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Src family kinase signaling pathway
• Mitochondrial apoptosis pathway
• Insulin signaling pathway
Protein Summary
CSKMT is a 50 kDa mitochondrial tyrosine kinase that specifically phosphorylates Src family kinases at their C-terminal regulatory tyrosine, inhibiting their activity. It plays a key role in mitochondrial metabolism, apoptosis, and cell proliferation. The protein contains an N-terminal mitochondrial targeting sequence, a SH2 domain, and a kinase domain. Dysregulation of CSKMT is implicated in cancer and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSKMT Knockout HEK293 Cell Line | EDJ-KQ13016 | Human | 751071 | Details Get a Quote |
| CSKMT Knockout A-549 Cell Line | EDJ-KQ42276 | Human | 751071 | Details Get a Quote |
| CSKMT Knockout HCT 116 Cell Line | EDJ-KQ42277 | Human | 751071 | Details Get a Quote |
| CSKMT Knockout HeLa Cell Line | EDJ-KQ42278 | Human | 751071 | Details Get a Quote |
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