KANK1: A Key Regulator of Cell Migration and Tumor Suppression
Comprehensive genomic and functional analysis of the KANK1 gene
Gene Information Card
| Symbol | KANK1 |
|---|---|
| Full Name | KN motif and ankyrin repeat domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.3 |
| NCBI Gene ID | 23189 ncbi.nlm.nih.gov/gene/23189 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q14678 |
| OMIM ID | 607704 |
| HGNC ID | 23269 |
| Aliases | ANKRD15, KIAA0172, KANK |
Description
KANK1 (KN motif and ankyrin repeat domains 1) encodes a protein that functions as a scaffold in the regulation of actin cytoskeleton dynamics and cell migration. It is involved in integrin-mediated signaling and acts as a tumor suppressor in several cancers, particularly renal cell carcinoma. The gene is located on chromosome 9p24.3, a region frequently deleted in various malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma (clear cell) | Loss of KANK1 expression due to promoter methylation or deletion promotes tumor cell migration and invasion. | PMID: 21252314; NCBI Gene |
| Cerebral palsy, spastic quadriplegic, 2 (CPSQ2) | Homozygous mutations in KANK1 disrupt cytoskeletal regulation in neurons, leading to impaired axonal guidance. | OMIM #612900 |
| Prostate cancer | Reduced KANK1 expression correlates with metastasis and poor prognosis via altered focal adhesion dynamics. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 15.2 | High |
| Placenta | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 14.0 | High expression; used in functional studies |
| HeLa (cervical carcinoma) | 7.5 | Moderate expression |
| A549 (lung carcinoma) | 5.2 | Low expression |
| MCF7 (breast carcinoma) | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.1024_1025del (p.Leu342fs) | Frameshift | <0.1% | Loss of function; predicted NMD |
| c.2150G>A (p.Arg717Gln) | Missense | 0.2% | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, associated with tumor suppression loss.
Gain of Function (GOF)
Not reported for KANK1.
Dominant Negative (DN)
Not reported for KANK1.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell migration |
| • integrin-mediated signaling pathway | • negative regulation of cell proliferation |
| • focal adhesion assembly |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-446728)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029481)
Protein Summary
The KANK1 protein contains an N-terminal KN motif and multiple C-terminal ankyrin repeats. It localizes to focal adhesions and interacts with talin and β-integrins to modulate actin polymerization and cell adhesion. Through its scaffolding function, KANK1 suppresses cell migration and invasion, acting as a tumor suppressor in kidney and prostate cancers. In neurons, it is essential for proper axonal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KANK1 Knockout HEK293 Cell Line | EDJ-KQ1436 | Human | 23189 | Details Get a Quote |
| KANK1 Knockout A-549 Cell Line | EDJ-KQ22287 | Human | 23189 | Details Get a Quote |
| KANK1 Knockout HCT 116 Cell Line | EDJ-KQ22289 | Human | 23189 | Details Get a Quote |
| KANK1 Knockout HeLa Cell Line | EDJ-KQ22290 | Human | 23189 | Details Get a Quote |
