FERMT1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| fermitin family member 1 | MIM:607900 | Ensembl:ENSG00000101311 | HGNC:HGNC:15889 | PA162388314 | 20p12.3 |
GO terms in FERMT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001954 | positive regulation of cell-matrix adhesion |
| BP | IDA | GO:0007155 | cell adhesion |
| BP | IEA | GO:0007229 | integrin-mediated signaling pathway |
| BP | IEA | GO:0010629 | negative regulation of gene expression |
| BP | IEA | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0033630 | positive regulation of cell adhesion mediated by integrin |
| BP | IEA | GO:0042308 | negative regulation of protein import into nucleus |
| BP | IDA | GO:0043616 | keratinocyte proliferation |
| BP | IDA | GO:0051546 | keratinocyte migration |
| BP | IEA | GO:0051886 | negative regulation of timing of anagen |
| BP | IEA | GO:0071711 | basement membrane organization |
| BP | IEA | GO:0090090 | negative regulation of canonical Wnt signaling pathway |
| BP | IDA | GO:0090162 | establishment of epithelial cell polarity |
| BP | IEA | GO:2000647 | negative regulation of stem cell proliferation |
| BP | IEA | GO:2001203 | positive regulation of transforming growth factor-beta secretion |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0005925 | focal adhesion |
| CC | IDA | GO:0030054 | cell junction |
| CC | IEA | GO:0031941 | filamentous actin |
| CC | IEA | GO:0032587 | ruffle membrane |
Gene expression in normal tissue: FERMT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FERMT1
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FERMT1
CLASSFICATION
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