IPCEF1
Interaction Protein for Cytohesin Exchange Factors 1
Gene Information Card
| Symbol | IPCEF1 |
|---|---|
| Full Name | Interaction Protein for Cytohesin Exchange Factors 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 26026 ncbi.nlm.nih.gov/gene/26026 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8WWN6 |
| OMIM ID | 614838 |
| HGNC ID | 25997 |
| Aliases | KIAA0403, MGC12966, cytohesin-interacting protein |
Description
IPCEF1 encodes a protein that interacts with cytohesin family members, which are guanine nucleotide exchange factors (GEFs) for ADP-ribosylation factors (ARFs). This interaction modulates ARF-dependent signaling pathways involved in vesicle trafficking, cell adhesion, and cytoskeletal reorganization. The gene is located on chromosome 6q25.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cytohesin binding |
| • GTPase activator activity | • intracellular signal transduction |
| • vesicle-mediated transport |
Pathways
• ARF6 signaling pathway
• Cytohesin-mediated ARF activation
Protein Summary
IPCEF1 is a 648-amino acid protein that contains a pleckstrin homology (PH) domain and a coiled-coil region. It binds directly to cytohesin-1 and cytohesin-2, enhancing their GEF activity toward ARF6. This interaction is critical for regulating cell spreading, integrin-mediated adhesion, and endocytic recycling. The protein is predominantly cytoplasmic and may localize to the plasma membrane upon stimulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IPCEF1 Knockout HEK293 Cell Line | EDJ-KQ51160 | Human | 26034 | Details Get a Quote |
| IPCEF1 Knockout HeLa Cell Line | EDJ-KQ55871 | Human | 26034 | Details Get a Quote |
| IPCEF1 Knockout A-549 Cell Line | EDJ-KQ64361 | Human | 26034 | Details Get a Quote |
| IPCEF1 Knockout HCT 116 Cell Line | EDJ-KQ72811 | Human | 26034 | Details Get a Quote |
