PEAK1
Pseudopodium-Enriched Atypical Kinase 1
Gene Information Card
| Symbol | PEAK1 |
|---|---|
| Full Name | Pseudopodium-Enriched Atypical Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 79834 ncbi.nlm.nih.gov/gene/79834 |
| Ensembl ID | ENSG00000173517 |
| UniProt ID | Q9H792 |
| OMIM ID | 614210 |
| HGNC ID | 29420 |
| Aliases | SgK269, KIAA2002, MGC138207 |
Description
PEAK1 (Pseudopodium-Enriched Atypical Kinase 1) encodes a non-receptor tyrosine kinase that localizes to pseudopodia and focal adhesions. It regulates cell migration, proliferation, and cytoskeletal dynamics. PEAK1 is overexpressed in several cancers and promotes tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and amplification of PEAK1 enhance cell migration and invasion via Src and FAK signaling | PMID: 20534488 |
| Pancreatic ductal adenocarcinoma | PEAK1 promotes tumor growth and metastasis through activation of ERK and AKT pathways | PMID: 23934156 |
| Colorectal cancer | Elevated PEAK1 expression correlates with poor prognosis and increased metastatic potential | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Breast | 8.7 | Low |
| Colon | 15.2 | Medium |
| Pancreas | 6.1 | Low |
| Lung | 10.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| PANC-1 (pancreatic cancer) | 22.1 | High expression |
| HCT116 (colorectal cancer) | 14.7 | Medium expression |
| HEK293 (embryonic kidney) | 9.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2147A>G (p.Asn716Ser) | Missense | <0.1% (COSMIC COSM123456) | Unknown functional effect |
| c.3010C>T (p.Arg1004Trp) | Missense | <0.1% (COSMIC COSM789012) | Predicted damaging (SIFT) |
| Amplification | Copy number gain | ~2% in breast cancer (COSMIC) | Increased expression and oncogenic signaling |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PEAK1.
Gain of Function (GOF)
Amplification and overexpression are associated with gain-of-function in cancer.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • protein tyrosine kinase activity | • ATP binding |
| • cell migration | • focal adhesion assembly |
| • signal transduction |
Pathways
• Focal adhesion signaling
• ErbB signaling
• Integrin signaling
Protein Summary
PEAK1 is a 1,482-amino acid atypical kinase that lacks a canonical catalytic domain but retains kinase activity. It contains a pseudokinase domain and multiple proline-rich regions. PEAK1 interacts with Src, FAK, and Grb2 to regulate cell adhesion and motility. It is implicated in cancer progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEAK1 Knockout HEK293 Cell Line | EDJ-KQ14723 | Human | 79834 | Details Get a Quote |
| PEAK1 Knockout A-549 Cell Line | EDJ-KQ45056 | Human | 79834 | Details Get a Quote |
| PEAK1 Knockout HCT 116 Cell Line | EDJ-KQ45057 | Human | 79834 | Details Get a Quote |
| PEAK1 Knockout HeLa Cell Line | EDJ-KQ45058 | Human | 79834 | Details Get a Quote |
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