CTF1 (Cardiotrophin 1)
A cytokine involved in cardiac hypertrophy, neuroprotection, and immune regulation
Gene Information Card
| Symbol | CTF1 |
|---|---|
| Full Name | Cardiotrophin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 1489 ncbi.nlm.nih.gov/gene/1489 |
| Ensembl ID | ENSG00000131016 |
| UniProt ID | Q16619 |
| OMIM ID | 600435 |
| HGNC ID | 2499 |
| Aliases | CT-1, CTF1, cardiotrophin-1 |
Description
CTF1 encodes cardiotrophin 1, a member of the interleukin-6 (IL-6) family of cytokines. It is expressed in the heart, skeletal muscle, liver, and nervous system. Cardiotrophin 1 induces cardiac myocyte hypertrophy, promotes survival of motor neurons, and modulates immune responses. It signals through the gp130/LIFR receptor complex and activates STAT3, MAPK, and PI3K pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated (CMD) | CTF1 mutations impair cardiac myocyte survival and hypertrophy signaling, leading to dilated cardiomyopathy | PMID: 12415268; ClinVar |
| Amyotrophic lateral sclerosis (ALS) | Reduced CTF1 levels may compromise motor neuron survival; CTF1 administration shows neuroprotective effects in animal models | PMID: 11804571; NCBI Gene |
| Hypertension | Elevated CTF1 serum levels correlate with left ventricular hypertrophy in hypertensive patients | PMID: 15604330; OMIM |
| Cancer (gastric, breast) | CTF1 overexpression promotes tumor cell proliferation and invasion via STAT3 activation | PMID: 23542345; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 4.7 | Low |
| Lung | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 15.2 | High expression |
| HepG2 | 7.8 | Moderate expression |
| SH-SY5Y | 5.1 | Low expression |
| MCF7 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199C>T (p.Arg67Cys) | Missense | <0.01% | Reduced receptor binding; associated with dilated cardiomyopathy |
| c.346G>A (p.Gly116Ser) | Missense | <0.01% | Impaired STAT3 activation; linked to ALS |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; rare in population |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg67Cys) reduce receptor affinity and downstream signaling, leading to cardiomyopathy.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests potential gain-of-function in cancer.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL-6 family signaling (Reactome R-HSA-447115)
• STAT3 signaling pathway (KEGG hsa04630)
• MAPK signaling pathway (KEGG hsa04010)
• PI3K-Akt signaling pathway (KEGG hsa04151)
Protein Summary
Cardiotrophin 1 is a 21.5 kDa secreted cytokine composed of 201 amino acids. It contains a four-helix bundle structure typical of IL-6 family cytokines. The protein binds to the LIFR/gp130 heterodimer, activating JAK/STAT3, MAPK, and PI3K/Akt cascades. It is crucial for cardiac hypertrophy, motor neuron survival, and hepatic acute-phase response. Post-translational modifications include N-glycosylation at Asn-95.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTF1 Knockout HEK293 Cell Line | EDJ-KQ458 | Human | 1489 | Details Get a Quote |
| CTF1 Knockout HeLa Cell Line | EDJ-KQ53022 | Human | 1489 | Details Get a Quote |
| CTF1 Knockout A-549 Cell Line | EDJ-KQ61486 | Human | 1489 | Details Get a Quote |
| CTF1 Knockout HCT 116 Cell Line | EDJ-KQ69981 | Human | 1489 | Details Get a Quote |
