IQGAP1
IQ Motif Containing GTPase Activating Protein 1
Gene Information Card
| Symbol | IQGAP1 |
|---|---|
| Full Name | IQ Motif Containing GTPase Activating Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 8826 ncbi.nlm.nih.gov/gene/8826 |
| Ensembl ID | ENSG00000140575 |
| UniProt ID | P46940 |
| OMIM ID | 603379 |
| HGNC ID | 6110 |
| Aliases | SAP99, p195, IQGAP1_HUMAN |
Description
IQGAP1 is a scaffold protein that integrates multiple signaling pathways, regulating cell adhesion, migration, and proliferation. It contains multiple IQ motifs and a RasGAP-related domain, though it lacks GTPase-activating activity. IQGAP1 interacts with actin, calmodulin, and small GTPases such as Rac1 and Cdc42, modulating cytoskeletal dynamics and cell-cell junctions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Overexpression and altered localization promote cell invasion and metastasis | NCBI Gene, COSMIC |
| Colorectal cancer | Amplification and increased expression linked to tumor progression | COSMIC, ClinVar |
| Breast cancer | Upregulation associated with poor prognosis and enhanced migration | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | Elevated IQGAP1 correlates with metastasis and recurrence | NCBI Gene |
| Diabetes mellitus | Polymorphisms associated with insulin resistance and beta-cell dysfunction | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Kidney | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical adenocarcinoma |
| A549 | 13.7 | Lung carcinoma |
| MCF7 | 11.9 | Breast adenocarcinoma |
| HEK293 | 10.5 | Embryonic kidney |
| HepG2 | 9.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Altered calmodulin binding |
| c.2567A>G (p.Asn856Ser) | Missense | <0.1% | Potential impact on scaffold function |
| c.3456_3457insA | Frameshift | Rare | Loss of function |
| c.4567G>A (p.Glu1523Lys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, disrupting scaffold interactions.
Gain of Function (GOF)
Missense mutations that enhance binding to Rac1 or Cdc42, promoting cell migration.
Dominant Negative (DN)
Mutations that impair normal IQGAP1 interactions, leading to defective cytoskeletal regulation.
View complete mutation data：
Gene Ontology (GO)
| • calmodulin binding | • actin binding |
| • Ras GTPase binding | • cell-cell adhesion |
| • cell migration | • signal transduction |
Pathways
• Rho GTPase cycle
• Rac1 signaling
• Cdc42 signaling
• Adherens junction
• Wnt signaling
Protein Summary
IQGAP1 is a 1657-amino-acid scaffold protein that localizes to the cytoplasm and cell cortex. It contains a calponin homology domain, IQ motifs, a WW domain, and a RasGAP-related domain. IQGAP1 integrates signals from calcium, small GTPases, and MAP kinases to regulate cytoskeletal organization, cell polarity, and proliferation. Its dysregulation is implicated in cancer metastasis and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IQGAP1 Knockout HEK293 Cell Line | EDJ-KQ6376 | Human | 8826 | Details Get a Quote |
| IQGAP1 Knockout HCT 116 Cell Line | EDJ-KQ29050 | Human | 8826 | Details Get a Quote |
| IQGAP1 Knockout A-549 Cell Line | EDJ-KQ30371 | Human | 8826 | Details Get a Quote |
| IQGAP1 Knockout HeLa Cell Line | EDJ-KQ30373 | Human | 8826 | Details Get a Quote |
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