CDK5RAP3 Gene
CDK5 Regulatory Subunit Associated Protein 3
Gene Information Card
| Symbol | CDK5RAP3 |
|---|---|
| Full Name | CDK5 regulatory subunit associated protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 80279 ncbi.nlm.nih.gov/gene/80279 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q96JB5 |
| OMIM ID | 608200 |
| HGNC ID | 30874 |
| Aliases | C53, LZAP, IC53, HSF-27, MSTP058, PP1553 |
Description
CDK5RAP3 (CDK5 regulatory subunit associated protein 3) is a protein-coding gene located on chromosome 17q21.32. The encoded protein interacts with CDK5R1 (p35) and CDK5, and is involved in cell cycle regulation, apoptosis, and DNA damage response. It also functions as a negative regulator of the NF-kappaB pathway and has been implicated in tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of CDK5RAP3 promotes tumor growth and metastasis via NF-kappaB activation | PMID: 22952447 |
| Colorectal cancer | Loss of CDK5RAP3 expression correlates with poor prognosis and increased invasion | PMID: 25695677 |
| Breast cancer | CDK5RAP3 suppresses cell proliferation and migration through p53 pathway modulation | PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Colon | 6.5 | Low |
| Breast | 5.2 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Liver cancer cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| HEK293 | 14.5 | Embryonic kidney cell line |
| HeLa | 9.8 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Truncation, likely loss of function |
| c.742G>A (p.Gly248Arg) | Missense | <0.1% | Unknown significance |
| c.1234_1235insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CDK5RAP3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CDK5RAP3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0005829 (GO:0005829) | • GO:0043066 (GO:0043066) |
| • GO:0006915 (GO:0006915) | • GO:0007049 (GO:0007049) |
Pathways
• NF-kappaB signaling pathway
• p53 signaling pathway
• Apoptosis
• Cell cycle
Protein Summary
CDK5RAP3 is a 506-amino acid protein (UniProt Q96JB5) that localizes to the cytoplasm and nucleus. It contains a leucine zipper domain and interacts with CDK5R1 and CDK5. The protein negatively regulates NF-kappaB activity by promoting the degradation of RelA, and it also modulates p53-mediated apoptosis. CDK5RAP3 is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK5RAP3 Knockout HEK293 Cell Line | EDJ-KQ1911 | Human | 80279 | Details Get a Quote |
| CDK5RAP3 Knockout A-549 Cell Line | EDJ-KQ21823 | Human | 80279 | Details Get a Quote |
| CDK5RAP3 Knockout HCT 116 Cell Line | EDJ-KQ21824 | Human | 80279 | Details Get a Quote |
| CDK5RAP3 Knockout HeLa Cell Line | EDJ-KQ21825 | Human | 80279 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
