AKAP5: A-Kinase Anchoring Protein 5
Scaffolding protein in cAMP/PKA signaling and synaptic plasticity
Gene Information Card
| Symbol | AKAP5 |
|---|---|
| Full Name | A-Kinase Anchoring Protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 9495 ncbi.nlm.nih.gov/gene/9495 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9Y2D8 |
| OMIM ID | 604690 |
| HGNC ID | 376 |
| Aliases | AKAP79, AKAP75, H21 |
Description
AKAP5 encodes A-kinase anchoring protein 5, a scaffold protein that targets protein kinase A (PKA) and other signaling enzymes to specific subcellular compartments. It plays a critical role in cAMP-mediated signaling, synaptic plasticity, and neuronal function. The protein contains an N-terminal membrane-targeting domain and a C-terminal PKA-binding domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | AKAP5 anchors PKA and calcineurin; dysregulation contributes to tau phosphorylation and amyloid-beta toxicity | PMID: 21943597 |
| Cardiac hypertrophy | Altered AKAP5 expression disrupts β-adrenergic signaling and PKA compartmentalization | PMID: 24613305 |
| Neuropsychiatric disorders (e.g., schizophrenia) | AKAP5 variants affect synaptic PKA signaling and dendritic spine morphology | PMID: 25915568 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Heart | 8.3 | Low |
| Testis | 6.1 | Low |
| Lung | 4.2 | Not detected |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common expression system |
| HeLa (cervical carcinoma) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Alters membrane targeting; potential loss of function |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | May affect PKA binding affinity |
| c.1129_1131del (p.Phe377del) | In-frame deletion | <0.01% | Disrupts C-terminal domain; unknown effect |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing membrane localization or PKA anchoring reduce cAMP signaling fidelity.
Gain of Function (GOF)
Not well documented; potential aberrant scaffolding leading to overactive PKA signaling.
Dominant Negative (DN)
Truncated or mislocalized AKAP5 may sequester PKA away from native targets.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0007165 (signal transduction) |
| • GO:0019903 (protein phosphatase binding) | • GO:0030154 (cell differentiation) |
| • GO:0045202 (synapse) | • GO:0051018 (protein kinase A binding) |
Pathways
• cAMP/PKA signaling (Reactome: R-HSA-163615)
• G alpha (s) signalling events (Reactome: R-HSA-418555)
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
Protein Summary
AKAP5 is a 427-amino-acid scaffold protein that anchors PKA, protein kinase C (PKC), and calcineurin to the plasma membrane and postsynaptic densities. It regulates ion channels (e.g., AMPA receptors, L-type calcium channels) and modulates synaptic strength. The protein is highly expressed in brain and heart, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP5 Knockout HEK293 Cell Line | EDJ-KQ6613 | Human | 9495 | Details Get a Quote |
| AKAP5 Knockout HeLa Cell Line | EDJ-KQ29509 | Human | 9495 | Details Get a Quote |
| AKAP5 Knockout A-549 Cell Line | EDJ-KQ30854 | Human | 9495 | Details Get a Quote |
| AKAP5 Knockout HCT 116 Cell Line | EDJ-KQ72118 | Human | 9495 | Details Get a Quote |
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