GKAP1: G Kinase Anchoring Protein 1
A scaffold protein involved in cAMP/PKA signaling and neuronal function
Gene Information Card
| Symbol | GKAP1 |
|---|---|
| Full Name | G Kinase Anchoring Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 80318 ncbi.nlm.nih.gov/gene/80318 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9Y2Q0 |
| OMIM ID | 609476 |
| HGNC ID | 28987 |
| Aliases | AKAP6, PRKA6, D-AKAP1 |
Description
GKAP1 (G Kinase Anchoring Protein 1) encodes a scaffold protein that anchors protein kinase A (PKA) and other signaling molecules to subcellular compartments. It is involved in cAMP-dependent signaling, particularly in neuronal tissues, and plays a role in synaptic plasticity, mitochondrial function, and cell survival. The protein contains an N-terminal mitochondrial targeting sequence and a PKA-binding domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of PKA anchoring in neurons impairs synaptic signaling | ClinVar: pathogenic variants reported |
| Epilepsy | Altered cAMP signaling affects neuronal excitability | ClinVar: missense variants associated with seizures |
| Mitochondrial dysfunction | Impaired mitochondrial localization of PKA leads to oxidative stress | UniProt: functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Liver | 2.4 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model, high expression |
| HEK293 | 4.8 | Moderate expression |
| HeLa | 2.1 | Low expression |
| HepG2 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | 0.001% | Reduced PKA binding affinity |
| c.256G>A (p.Gly86Ser) | Missense | 0.002% | Impaired mitochondrial targeting |
| c.789_790del (p.Glu264fs) | Frameshift | <0.001% | Loss of function, associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt PKA binding lead to loss of anchoring function.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
Missense variants that retain binding but mislocalize PKA may act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase A binding | • cAMP-dependent protein kinase regulator activity |
| • mitochondrion | • synapse |
| • signal transduction | • protein anchoring |
Pathways
• cAMP/PKA signaling pathway
• cAMP-dependent protein kinase anchoring
Protein Summary
GKAP1 is a 903-amino acid scaffold protein that localizes primarily to mitochondria and synapses. It binds the regulatory subunit of PKA via an amphipathic helix, targeting PKA to specific subcellular sites. The protein also interacts with other signaling molecules, modulating neuronal plasticity and mitochondrial metabolism. Alternative splicing generates isoforms with distinct subcellular distributions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GKAP1 Knockout HEK293 Cell Line | EDJ-KQ9520 | Human | 80318 | Details Get a Quote |
| GKAP1 Knockout A-549 Cell Line | EDJ-KQ36280 | Human | 80318 | Details Get a Quote |
| GKAP1 Knockout HCT 116 Cell Line | EDJ-KQ36281 | Human | 80318 | Details Get a Quote |
| GKAP1 Knockout HeLa Cell Line | EDJ-KQ36282 | Human | 80318 | Details Get a Quote |
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