GIT1 Gene: GIT ArfGAP 1
Key regulator of cell adhesion, migration, and receptor signaling
Gene Information Card
| Symbol | GIT1 |
|---|---|
| Full Name | GIT ArfGAP 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 28964 ncbi.nlm.nih.gov/gene/28964 |
| Ensembl ID | ENSG00000108262 |
| UniProt ID | Q9Y2X7 |
| OMIM ID | 608434 |
| HGNC ID | 4274 |
| Aliases | ARF1GAP1, GIT1, CAT-1, COOL1, p95-APP1 |
Description
GIT1 (GIT ArfGAP 1) encodes a multidomain protein that functions as a GTPase-activating protein (GAP) for ARF family small GTPases. It plays a critical role in regulating cell adhesion, migration, and receptor endocytosis by coordinating focal adhesion dynamics and signaling complexes. GIT1 interacts with proteins such as PAK, PIX, and paxillin to modulate cytoskeletal remodeling and cell motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and altered localization promote cell migration and invasion | PMID: 21502516 |
| Lung cancer | GIT1 amplification associated with poor prognosis and metastasis | PMID: 23542345 |
| Cardiovascular disease | GIT1 deficiency impairs endothelial cell migration and angiogenesis | PMID: 20007901 |
| Intellectual disability | De novo missense variants linked to neurodevelopmental phenotypes | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 11.1 | Medium |
| Testis | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 12.1 | Moderate expression |
| A549 | 14.3 | Moderate expression |
| MCF7 | 16.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | Rare | Altered GAP activity and protein interactions |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | Impaired focal adhesion turnover |
| c.1789_1791del (p.Lys597del) | In-frame deletion | Rare | Reduced binding to paxillin |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GAP domain (e.g., p.Arg375Trp) reduce ARF-GAP activity, impairing cell migration and adhesion dynamics.
Gain of Function (GOF)
Amplification or overexpression in cancers leads to enhanced cell motility and invasion.
Dominant Negative (DN)
Truncating mutations or deletions in the C-terminal paxillin-binding domain disrupt focal adhesion targeting and act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• PAK signaling pathway
• ARF GTPase cycle
Protein Summary
GIT1 is a 761-amino-acid protein containing an N-terminal ARF-GAP domain, ankyrin repeats, a Spa2 homology domain, and a C-terminal paxillin-binding domain. It localizes to focal adhesions and regulates the turnover of these structures by modulating ARF6 activity. GIT1 also scaffolds signaling complexes involving PAK, PIX, and MEK, influencing cell migration, proliferation, and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIT1 Knockout HEK293 Cell Line | EDJ-KQ8942 | Human | 28964 | Details Get a Quote |
| GIT1 Knockout A-549 Cell Line | EDJ-KQ35298 | Human | 28964 | Details Get a Quote |
| GIT1 Knockout HCT 116 Cell Line | EDJ-KQ35299 | Human | 28964 | Details Get a Quote |
| GIT1 Knockout HeLa Cell Line | EDJ-KQ35300 | Human | 28964 | Details Get a Quote |
