SKP1 Gene - S-Phase Kinase Associated Protein 1
A core component of the SCF ubiquitin ligase complex involved in cell cycle regulation and protein degradation
Gene Information Card
| Symbol | SKP1 |
|---|---|
| Full Name | S-phase kinase associated protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 6500 ncbi.nlm.nih.gov/gene/6500 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | P63208 |
| OMIM ID | 601434 |
| HGNC ID | 10899 |
| Aliases | SKP1A, OCP-II, TCEB1L, p19A |
Description
SKP1 encodes a component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which targets proteins for ubiquitination and subsequent proteasomal degradation. It is essential for cell cycle progression, signal transduction, and transcription regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Dysregulation of SCF complex leads to aberrant degradation of cell cycle regulators | PMID: 12058064 |
| Breast cancer | Overexpression of SKP1 associated with poor prognosis | PMID: 15626734 |
| Lung cancer | Altered SKP1 expression affects p27 degradation | PMID: 12460918 |
| Neurodevelopmental disorders | Rare variants in SKP1 linked to intellectual disability | ClinVar: RCV000169651 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lymph node | 30.1 | High |
| Bone marrow | 25.8 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.6 | Cervical cancer cell line |
| HEK293 | 38.2 | Embryonic kidney cells |
| A549 | 32.1 | Lung cancer cell line |
| MCF7 | 28.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.214G>A | Missense | <0.01% | p.Gly72Ser; reported in COSMIC |
| c.325C>T | Nonsense | <0.01% | p.Gln109*; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing SCF complex assembly.
Gain of Function (GOF)
Not well documented; overexpression may enhance ubiquitination activity.
Dominant Negative (DN)
Missense mutations in the SKP1-CUL1 interface may disrupt complex formation.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• SCF ubiquitin ligase complex pathway (Reactome: R-HSA-8951664)
• Cell cycle regulation (KEGG: hsa04110)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
SKP1 is a 163-amino acid protein (19 kDa) that forms the adaptor module of the SCF ubiquitin ligase complex. It bridges CUL1 and F-box proteins, enabling substrate recognition and ubiquitination. The protein contains a SKP1 dimerization domain and a POZ domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SKP1 Knockout HEK293 Cell Line | EDJ-KQ50634 | Human | 6500 | Details Get a Quote |
| SKP1 Knockout HeLa Cell Line | EDJ-KQ54475 | Human | 6500 | Details Get a Quote |
| SKP1 Knockout A-549 Cell Line | EDJ-KQ62961 | Human | 6500 | Details Get a Quote |
| SKP1 Knockout HCT 116 Cell Line | EDJ-KQ71433 | Human | 6500 | Details Get a Quote |
