GIPC1 Gene: GIPC PDZ Domain Containing Family Member 1
Comprehensive genomic and functional analysis of GIPC1, a scaffold protein involved in receptor trafficking and signaling.
Gene Information Card
| Symbol | GIPC1 |
|---|---|
| Full Name | GIPC PDZ domain containing family member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 10755 ncbi.nlm.nih.gov/gene/10755 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O14908 |
| OMIM ID | 605155 |
| HGNC ID | 1226 |
| Aliases | GIPC, C19orf3, GLUT1CBP, Hs.6454, NIP, RGS19IP1, TIP-2 |
Description
GIPC1 (GIPC PDZ domain containing family member 1) encodes a scaffold protein that contains a central PDZ domain. It interacts with the cytoplasmic tail of various transmembrane receptors, including insulin-like growth factor 1 receptor (IGF1R), integrins, and G protein-coupled receptors. GIPC1 is involved in receptor trafficking, endocytosis, and signal transduction. It also modulates cell migration and proliferation. The gene is located on chromosome 19p13.12 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal, gastric) | Overexpression of GIPC1 enhances IGF1R signaling and promotes tumor growth and metastasis. | PMID: 19029980; COSMIC |
| Ovarian cancer | GIPC1 overexpression correlates with poor prognosis and increased cell invasion. | PMID: 21804532 |
| Glaucoma (primary open-angle) | GIPC1 interacts with myocilin; variants may influence trabecular meshwork function. | PMID: 15657655; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 16.2 | Medium |
| Brain | 12.8 | Medium |
| Lung | 18.5 | Medium |
| Liver | 9.3 | Low |
| Kidney | 22.1 | Medium |
| Breast | 15.0 | Medium |
| Colon | 20.4 | Medium |
| Ovary | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 19.5 | High expression |
| A549 (lung cancer) | 16.8 | Medium expression |
| HeLa (cervical cancer) | 22.3 | High expression |
| HEK293 (embryonic kidney) | 14.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon; uncertain significance |
| c.124G>A (p.Glu42Lys) | missense | <0.1% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | missense | <0.1% | Located in PDZ domain; may affect binding |
| c.631G>A (p.Gly211Arg) | missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in GIPC1.
Gain of Function (GOF)
Overexpression in multiple cancers suggests a potential gain-of-function role in tumor progression.
Dominant Negative (DN)
No dominant-negative mutations described for GIPC1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • PDZ domain binding (GO:0030165) |
| • endocytosis (GO:0006897) | • signal transduction (GO:0007165) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
Pathways
• IGF1R signaling pathway
• Integrin signaling pathway
• G protein-coupled receptor signaling
Protein Summary
GIPC1 is a 333-amino acid scaffold protein with a central PDZ domain. It localizes to the plasma membrane and endosomes, where it binds to the C-termini of various receptors (e.g., IGF1R, integrins, TrkA). Through these interactions, GIPC1 regulates receptor internalization, recycling, and downstream signaling. It is implicated in cell adhesion, migration, and proliferation. Overexpression in several cancers suggests a role in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIPC1 Knockout HEK293 Cell Line | EDJ-KQ2197 | Human | 10755 | Details Get a Quote |
| GIPC1 Knockout A-549 Cell Line | EDJ-KQ22432 | Human | 10755 | Details Get a Quote |
| GIPC1 Knockout HCT 116 Cell Line | EDJ-KQ22433 | Human | 10755 | Details Get a Quote |
| GIPC1 Knockout HeLa Cell Line | EDJ-KQ22434 | Human | 10755 | Details Get a Quote |
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