GSKIP: GSK3B Interacting Protein
A scaffold protein modulating GSK3B signaling and cellular processes
Gene Information Card
| Symbol | GSKIP |
|---|---|
| Full Name | GSK3B Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 51527 ncbi.nlm.nih.gov/gene/51527 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P0R6 |
| OMIM ID | 616776 |
| HGNC ID | 28479 |
| Aliases | C14orf129, HSPC210, GSK3BIP1 |
Description
GSKIP (GSK3B Interacting Protein) encodes a scaffold protein that directly interacts with glycogen synthase kinase 3 beta (GSK3B). It negatively regulates GSK3B activity by anchoring it to the centrosome and modulating its phosphorylation state. GSKIP is involved in Wnt signaling, cell cycle progression, and microtubule organization. The gene is located on chromosome 14q32.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | GSKIP overexpression may promote Wnt/β-catenin signaling via GSK3B inhibition | PMID: 23454734 |
| Breast cancer | Altered GSKIP expression correlates with GSK3B activity and cell proliferation | PMID: 25605274 |
| Neurodevelopmental disorders | GSKIP variants may disrupt GSK3B regulation affecting neuronal development | ClinVar: rs1555312314 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.9 | Embryonic kidney cells |
| MCF7 | 12.3 | Breast cancer cell line |
| HCT116 | 14.0 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Unknown functional impact |
| c.328C>T (p.Arg110Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature.
Gain of Function (GOF)
Overexpression in cancer may confer gain-of-function by enhancing GSK3B inhibition.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • centrosome (GO:0005813) |
| • cell differentiation (GO:0030154) | • phosphatidylinositol-mediated signaling (GO:0048015) |
| • canonical Wnt signaling pathway (GO:0060070) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• GSK3B regulation (Reactome: R-HSA-209560)
Protein Summary
GSKIP is a 150-amino acid scaffold protein that localizes to the centrosome. It contains a conserved GSK3B-binding domain and interacts with the kinase via its C-terminal region. GSKIP negatively regulates GSK3B activity by promoting its inhibitory phosphorylation at Ser9. This interaction influences β-catenin stability, microtubule dynamics, and cell cycle progression. The protein is widely expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSKIP Knockout HEK293 Cell Line | EDJ-KQ13693 | Human | 51527 | Details Get a Quote |
| GSKIP Knockout HCT 116 Cell Line | EDJ-KQ18054 | Human | 51527 | Details Get a Quote |
| GSKIP Knockout A-549 Cell Line | EDJ-KQ43397 | Human | 51527 | Details Get a Quote |
| GSKIP Knockout HeLa Cell Line | EDJ-KQ43398 | Human | 51527 | Details Get a Quote |
