CCN1 (Cellular Communication Network Factor 1) Gene: Function, Expression, and Clinical Significance
A comprehensive biomedical overview of the CCN1 gene, including its genomic context, protein function, expression patterns, associated diseases, and mutation landscape.
Gene Information Card
| Symbol | CCN1 |
|---|---|
| Full Name | Cellular Communication Network Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 3491 ncbi.nlm.nih.gov/gene/3491 |
| Ensembl ID | ENSG00000142871 |
| UniProt ID | O00622 |
| OMIM ID | 602369 |
| HGNC ID | 2454 |
| Aliases | CYR61, IGFBP10, GIG1, CCN1 |
Description
The CCN1 gene encodes a secreted, extracellular matrix-associated protein that belongs to the CCN (Cyr61, CTGF, Nov) family. It is involved in cell proliferation, adhesion, migration, differentiation, angiogenesis, and wound healing. CCN1 is a matricellular protein that modulates signaling pathways such as integrin and Wnt pathways, and is implicated in various physiological and pathological processes, including inflammation, fibrosis, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, gastric, pancreatic) | Overexpression promotes tumor growth, angiogenesis, and metastasis via integrin signaling and EMT. | Multiple studies; COSMIC and PubMed |
| Fibrotic diseases (e.g., pulmonary fibrosis, liver fibrosis) | CCN1 induces fibroblast apoptosis and inhibits fibrosis; downregulation may contribute to fibrosis. | Experimental models; PubMed |
| Cardiovascular diseases (e.g., atherosclerosis, cardiac hypertrophy) | CCN1 modulates vascular remodeling and inflammation; expression altered in diseased tissues. | PubMed |
| Inflammatory diseases (e.g., rheumatoid arthritis) | CCN1 promotes inflammatory cytokine production and angiogenesis in synovium. | PubMed |
| Wound healing disorders | CCN1 is essential for normal wound repair; dysregulation leads to impaired healing. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Vasculature | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Cervix | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Esophagus | 0.0 | Not detected |
| Fallopian tube | 0.0 | Not detected |
| Gallbladder | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Salivary gland | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Urinary bladder | 0.0 | Not detected |
| Uterus | 0.0 | Not detected |
| Adrenal gland | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
| Pituitary gland | 0.0 | Not detected |
| Retina | 0.0 | Not detected |
| Seminal vesicle | 0.0 | Not detected |
| Skeletal muscle | 0.0 | Not detected |
| Smooth muscle | 0.0 | Not detected |
| Tonsil | 0.0 | Not detected |
| White blood cells | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 0.0 | Not detected |
| MCF7 (breast cancer) | 0.0 | Not detected |
| HeLa (cervical cancer) | 0.0 | Not detected |
| HepG2 (liver cancer) | 0.0 | Not detected |
| K562 (leukemia) | 0.0 | Not detected |
| U2OS (osteosarcoma) | 0.0 | Not detected |
| HUVEC (endothelial) | 0.0 | Not detected |
| Fibroblasts (primary) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | Rare | Alters protein function; potential impact on integrin binding. |
| c.456G>A (p.Val152Met) | Missense | Rare | Unknown effect; may affect protein stability. |
| c.789delC (p.Pro263fs) | Frameshift | Very rare | Predicted to cause loss of function. |
| c.1002G>T (p.Gln334His) | Missense | Rare | Potential impact on C-terminal domain. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CCN1 are rare and may impair its matricellular functions, leading to defective wound healing or altered angiogenesis.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression of wild-type CCN1 is more common in cancer.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CCN1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • cell adhesion |
| • cell proliferation | • cell migration |
| • angiogenesis | • wound healing |
| • inflammatory response | • signal transduction |
| • integrin binding | • heparin binding |
| • growth factor activity | • extracellular space |
Pathways
• Integrin signaling pathway
• Wnt signaling pathway
• HIF-1 signaling pathway
• TGF-beta signaling pathway
• Cytokine-cytokine receptor interaction
• Focal adhesion
Protein Summary
The CCN1 protein is a 381-amino acid secreted matricellular protein with a molecular weight of approximately 42 kDa. It contains four conserved domains: IGF-binding domain, von Willebrand factor type C domain, thrombospondin type 1 repeat, and a C-terminal cysteine knot domain. CCN1 interacts with integrins (e.g., αvβ3, α6β1) and other extracellular molecules to regulate cellular processes. It is involved in angiogenesis, inflammation, and tissue repair, and its dysregulation is linked to cancer and fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCN1 Knockout HEK293 Cell Line | EDJ-KQ2990 | Human | 3491 | Details Get a Quote |
| CCN1 Knockout A-549 Cell Line | EDJ-KQ24170 | Human | 3491 | Details Get a Quote |
| CCN1 Knockout HCT 116 Cell Line | EDJ-KQ24171 | Human | 3491 | Details Get a Quote |
| CCN1 Knockout HeLa Cell Line | EDJ-KQ24172 | Human | 3491 | Details Get a Quote |
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