AKIP1: A-Kinase Interacting Protein 1
A scaffold protein modulating PKA signaling and cellular stress responses
Gene Information Card
| Symbol | AKIP1 |
|---|---|
| Full Name | A-kinase interacting protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 56672 ncbi.nlm.nih.gov/gene/56672 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q9NQ31 |
| OMIM ID | 609191 |
| HGNC ID | HGNC:24086 |
| Aliases | BCAS3, BCA3, C11orf17, PRO2455 |
Description
AKIP1 (A-kinase interacting protein 1) encodes a scaffold protein that binds the regulatory subunit of protein kinase A (PKA) and recruits PKA to the nucleus. It modulates PKA-dependent phosphorylation of transcription factors such as NF-κB and CREB, thereby influencing gene expression, cell survival, and stress responses. AKIP1 is also implicated in DNA damage repair and angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of AKIP1 enhances NF-κB activation and promotes cell proliferation and invasion. | PMID: 22926525 |
| Prostate cancer | AKIP1 upregulation correlates with poor prognosis and may drive androgen receptor signaling. | PMID: 25605247 |
| Cardiac hypertrophy | AKIP1 mediates PKA-dependent hypertrophic signaling in cardiomyocytes. | PMID: 23666743 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 10.8 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | Embryonic kidney cells; high expression |
| HeLa | 14.2 | Cervical cancer cells; moderate expression |
| MCF7 | 21.5 | Breast cancer cells; high expression |
| HepG2 | 9.8 | Liver cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | 0.01% (gnomAD) | Unknown functional impact; located in PKA-binding domain |
| c.412C>T (p.Pro138Ser) | Missense | 0.005% (gnomAD) | May alter protein stability |
| c.523_524insA (p.Thr175Asnfs*2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to truncate the protein and abolish PKA binding.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance NF-κB activation.
Dominant Negative (DN)
No dominant-negative mutations reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PKA-mediated signaling (Reactome: R-HSA-163615)
• NF-κB activation (Reactome: R-HSA-1169091)
• CREB phosphorylation (Reactome: R-HSA-111932)
Protein Summary
AKIP1 is a 207-amino acid scaffold protein that localizes to both the nucleus and cytoplasm. It contains a PKA-binding domain that interacts with the regulatory subunit of PKA, facilitating nuclear translocation of the kinase. AKIP1 also binds to the NF-κB subunit p65 and enhances its transcriptional activity. The protein is involved in cellular stress responses, DNA repair, and angiogenesis. Post-translational modifications include phosphorylation and acetylation, which modulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKIP1 Knockout HEK293 Cell Line | EDJ-KQ2142 | Human | 56672 | Details Get a Quote |
| AKIP1 Knockout A-549 Cell Line | EDJ-KQ22311 | Human | 56672 | Details Get a Quote |
| AKIP1 Knockout HCT 116 Cell Line | EDJ-KQ22312 | Human | 56672 | Details Get a Quote |
| AKIP1 Knockout HeLa Cell Line | EDJ-KQ22313 | Human | 56672 | Details Get a Quote |
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