AKAP11: A-Kinase Anchoring Protein 11
A scaffold protein linking PKA to signaling complexes, implicated in bipolar disorder and cancer.
Gene Information Card
| Symbol | AKAP11 |
|---|---|
| Full Name | A-kinase anchoring protein 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 11215 ncbi.nlm.nih.gov/gene/11215 |
| Ensembl ID | ENSG00000123560 |
| UniProt ID | Q9UKA4 |
| OMIM ID | 604696 |
| HGNC ID | 369 |
| Aliases | AKAP220, PRKA11, AKAP-11, DKFZp686I152 |
Description
AKAP11 encodes a member of the A-kinase anchoring protein (AKAP) family, which functions as a scaffold to tether protein kinase A (PKA) and other signaling enzymes to specific subcellular compartments. The protein contains an N-terminal RII-binding domain that interacts with the regulatory subunit of PKA, and a C-terminal domain that targets it to peroxisomes. AKAP11 is involved in regulating cAMP-dependent signaling, cell growth, and differentiation. Mutations in this gene have been associated with bipolar disorder and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Loss-of-function variants disrupt PKA anchoring, altering neuronal signaling and synaptic plasticity. | ClinVar; PMID: 35396580 |
| Breast cancer | Somatic mutations and copy number alterations may dysregulate PKA-mediated growth signals. | COSMIC; PMID: 29056338 |
| Colorectal cancer | Overexpression and mutations in AKAP11 are linked to aberrant cAMP signaling and tumor progression. | COSMIC; PMID: 26689913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain (cerebellum) | 18.2 | Medium |
| Heart | 14.7 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | Embryonic kidney, high expression |
| HeLa | 15.8 | Cervical carcinoma, moderate expression |
| MCF7 | 12.3 | Breast cancer, moderate expression |
| HepG2 | 9.1 | Hepatocellular carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | 0.02% (gnomAD) | Loss of function; truncation of C-terminal domain |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% (gnomAD) | Unknown; may affect PKA binding |
| c.1789_1790del (p.Leu597fs) | Frameshift | 0.005% (gnomAD) | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375*, p.Leu597fs) are classified as loss-of-function, reducing or abolishing PKA anchoring.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in AKAP11.
Dominant Negative (DN)
Some missense variants (e.g., p.Glu486Lys) may act as dominant-negative by competing with wild-type AKAP11 for PKA binding without proper localization.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase A binding | • cAMP-dependent protein kinase regulator activity |
| • peroxisome targeting | • signal transduction |
| • protein localization to peroxisome |
Pathways
• cAMP/PKA signaling pathway
• GPCR downstream signaling
• Peroxisomal protein import
Protein Summary
AKAP11 is a 220 kDa scaffold protein that anchors PKA to peroxisomes and other organelles, facilitating localized cAMP signaling. It contains an N-terminal RII-binding domain and a C-terminal peroxisomal targeting sequence. The protein is expressed in multiple tissues, with highest levels in testis and brain. Dysregulation of AKAP11 is implicated in bipolar disorder and several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP11 Knockout HEK293 Cell Line | EDJ-KQ3851 | Human | 11215 | Details Get a Quote |
| AKAP11 Knockout A-549 Cell Line | EDJ-KQ26030 | Human | 11215 | Details Get a Quote |
| AKAP11 Knockout HCT 116 Cell Line | EDJ-KQ26031 | Human | 11215 | Details Get a Quote |
| AKAP11 Knockout HeLa Cell Line | EDJ-KQ26032 | Human | 11215 | Details Get a Quote |
| AKAP11 Knockout HAP1 Cell Line | EDC08050 | Human | 11215 | Details Get a Quote |
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