FARP1: FERM, ARH/RhoGEF and Pleckstrin Domain Protein 1
A Rho GTPase guanine nucleotide exchange factor involved in cytoskeletal dynamics, cell adhesion, and neuronal development.
Gene Information Card
| Symbol | FARP1 |
|---|---|
| Full Name | FERM, ARH/RhoGEF and Pleckstrin domain protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q32.2 |
| NCBI Gene ID | 10160 ncbi.nlm.nih.gov/gene/10160 |
| Ensembl ID | ENSG00000102738 |
| UniProt ID | Q9Y4F1 |
| OMIM ID | 602654 |
| HGNC ID | 3591 |
| Aliases | PLEKHC1, CDEP, FARP1-IT1 |
Description
FARP1 (FERM, ARH/RhoGEF and Pleckstrin domain protein 1) encodes a multidomain protein that functions as a guanine nucleotide exchange factor (GEF) for RhoA and Rac1. It contains an N-terminal FERM domain, a central Dbl homology (DH) domain, and a C-terminal pleckstrin homology (PH) domain. FARP1 regulates cytoskeletal reorganization, cell adhesion, and migration. It is highly expressed in the brain and plays a role in neuronal development, including dendrite and spine morphogenesis. FARP1 has also been implicated in cancer cell invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or altered localization of FARP1 promotes RhoA/Rac1 activation, enhancing cell migration and invasion. | COSMIC; PMID: 25691885 |
| Intellectual disability | Rare variants in FARP1 have been associated with neurodevelopmental phenotypes, possibly via disrupted RhoGEF signaling. | ClinVar; PMID: 28135719 |
| Epilepsy | De novo missense variants in FARP1 identified in patients with epileptic encephalopathy. | ClinVar; PMID: 30842647 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Lung | 12.5 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 3.1 | Low |
| Heart | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.6 | High expression; used in neuronal differentiation studies |
| HeLa (cervical carcinoma) | 22.3 | Moderate expression |
| A549 (lung carcinoma) | 15.8 | Moderate expression |
| MCF7 (breast carcinoma) | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2147G>A (p.Arg716Gln) | Missense | 0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1010C>T (p.Thr337Met) | Missense | 0.005% | Associated with neurodevelopmental disorder |
| c.1567_1568insA (p.Thr523Asnfs*2) | Frameshift | Rare | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in FARP1 are predicted to cause loss of GEF activity, potentially impairing Rho GTPase signaling and neuronal development.
Gain of Function (GOF)
Missense mutations in the DH domain may increase GEF activity, leading to aberrant RhoA/Rac1 activation and enhanced cell motility in cancer.
Dominant Negative (DN)
Some missense mutations in the FERM domain may disrupt membrane localization and interfere with wild-type FARP1 function.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity (GO:0005089) | • guanyl-nucleotide exchange factor activity (GO:0005085) |
| • cellular response to growth factor stimulus (GO:0030026) | • actin cytoskeleton organization (GO:0030036) |
| • positive regulation of GTPase activity (GO:0043547) | • actin filament bundle assembly (GO:0051015) |
| • dendritic spine morphogenesis (GO:0060997) |
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
• Axon guidance (Reactome: R-HSA-422475)
• Rac1/Pak1/p38/MMP2 pathway (in cancer invasion)
Protein Summary
FARP1 is a 1049-amino-acid protein with a FERM domain (residues 1–300), a Dbl homology (DH) domain (residues 400–600), and a pleckstrin homology (PH) domain (residues 620–730). The FERM domain mediates membrane localization via interaction with phosphatidylinositol lipids and transmembrane proteins. The DH-PH module catalyzes nucleotide exchange on RhoA and Rac1, activating downstream signaling to the actin cytoskeleton. FARP1 is phosphorylated by Src family kinases, which modulates its GEF activity. In neurons, FARP1 localizes to dendritic spines and regulates spine density and morphology. In cancer cells, FARP1 overexpression correlates with increased invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FARP1 Knockout HEK293 Cell Line | EDJ-KQ6926 | Human | 10160 | Details Get a Quote |
| FARP1 Knockout A-549 Cell Line | EDJ-KQ31565 | Human | 10160 | Details Get a Quote |
| FARP1 Knockout HCT 116 Cell Line | EDJ-KQ31566 | Human | 10160 | Details Get a Quote |
| FARP1 Knockout HeLa Cell Line | EDJ-KQ31567 | Human | 10160 | Details Get a Quote |
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