FERMT1 Gene
Fermitin Family Member 1
Gene Information Card
| Symbol | FERMT1 |
|---|---|
| Full Name | Fermitin Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 55612 ncbi.nlm.nih.gov/gene/55612 |
| Ensembl ID | ENSG00000101311 |
| UniProt ID | Q9BQL6 |
| OMIM ID | 607900 |
| HGNC ID | 23189 |
| Aliases | C20orf42, KIND1, UNC112A, kindlin-1 |
Description
FERMT1 (Fermitin Family Member 1) encodes kindlin-1, a protein involved in integrin activation and cell-matrix adhesion. Kindlin-1 binds to integrin beta cytoplasmic tails and is essential for integrin-mediated signaling. Loss-of-function mutations in FERMT1 cause Kindler syndrome, a rare autosomal recessive disorder characterized by skin blistering, photosensitivity, and poikiloderma. The gene is expressed in epithelial tissues, particularly skin and gastrointestinal tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kindler Syndrome | Loss-of-function mutations in FERMT1 impair integrin activation, leading to skin fragility and blistering | OMIM #173650 |
| Colorectal Cancer | Reduced FERMT1 expression may contribute to tumor progression and metastasis | COSMIC, PubMed |
| Melanoma | Altered kindlin-1 expression affects cell adhesion and invasion | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 10.2 | Medium |
| Colon | 8.9 | Medium |
| Small Intestine | 7.6 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.0 | High expression |
| A431 (epidermoid carcinoma) | 12.8 | High expression |
| Caco-2 (colorectal adenocarcinoma) | 9.5 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; associated with Kindler syndrome |
| c.958G>A (p.Gly320Arg) | Missense | Rare | Impaired integrin binding; Kindler syndrome |
| c.1381C>T (p.Arg461*) | Nonsense | Rare | Premature stop; Kindler syndrome |
Mutation functional classification
Loss of Function (LOF)
Most FERMT1 mutations are loss-of-function, leading to truncated or unstable kindlin-1 protein, causing Kindler syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported in FERMT1.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • integrin activation | • cell-matrix adhesion |
| • focal adhesion assembly | • signal transduction |
| • protein binding |
Pathways
• Integrin signaling pathway
• Focal adhesion
• Cell-extracellular matrix interactions
Protein Summary
Kindlin-1 is a 677-amino acid protein containing a FERM domain that mediates binding to integrin beta tails. It localizes to focal adhesions and is critical for integrin activation and cell adhesion. Loss of kindlin-1 disrupts epithelial integrity, leading to skin fragility and other symptoms of Kindler syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FERMT1 Knockout HEK293 Cell Line | EDJ-KQ13472 | Human | 55612 | Details Get a Quote |
| FERMT1 Knockout A-549 Cell Line | EDJ-KQ43062 | Human | 55612 | Details Get a Quote |
| FERMT1 Knockout HCT 116 Cell Line | EDJ-KQ43063 | Human | 55612 | Details Get a Quote |
| FERMT1 Knockout HeLa Cell Line | EDJ-KQ43064 | Human | 55612 | Details Get a Quote |
