FERMT1 Gene Summary [Human]
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
Details
| Type | Processed Transcript |
| Official Symbol | FERMT1 |
| Official Name | fermitin family member 1 [Source:HGNC Symbol;Acc:HGNC:15889] |
| Ensembl ID | ENSG00000101311 |
| Bio databases IDs | |
| Aliases | fermitin family member 1, FERM domain containing kindlin 1, kindlin-1, kinderlin |
| Synonyms | 5830467P10Rik, C20orf42, DTGCU2, FERM domain containing kindlin 1, fermitin family member 1, KIND1, KINDLERIN, Kindlin-1, RGD1306816, UNC112A, URP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FERMT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FERM subdomain f3
- actin filament binding
- FERM domain
- Ubl1_cv_Nsp3_N-like
- PH domain
- Pleckstrin homology-like domain
- Kindlin-2 N-terminal domain
- integrin binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- kindler syndrome
- preeclampsia
- lung carcinoma
- lung carcinoma process
- squamous-cell carcinoma
- squamous cell cancer
- inflammatory bowel disease
- growth failure
- premature aging
role in cell
- expression in
- quantity
- activation in
- migration
- proliferation
- cleavage
- adhesion
- accumulation in
- signaling in
- reconnection
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- Cytoplasm
- cell periphery
- focal adhesions
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FERMT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- keratinocyte proliferation
- negative regulation of protein import into nucleus
- establishment of epithelial cell polarity
- cell adhesion
- negative regulation of canonical Wnt receptor signaling pathway
- negative regulation of gene expression
- integrin-mediated signaling pathway
- negative regulation of stem cell proliferation
- positive regulation of cell-matrix adhesion
- basement membrane organization
- positive regulation of cell adhesion mediated by integrin
- positive regulation of integrin activation
- negative regulation of anagen
- positive regulation of transforming growth factor beta receptor signaling pathway
- keratinocyte migration
- positive regulation of transforming growth factor beta production
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- focal adhesion
- cytoplasm
- cytosol
- ruffle membrane
- cell junction
- cell periphery
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- integrin binding