AKAP13: A-Kinase Anchoring Protein 13
A scaffold protein regulating RhoA and PKA signaling in cardiovascular and cancer biology
Gene Information Card
| Symbol | AKAP13 |
|---|---|
| Full Name | A-kinase anchoring protein 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.3 |
| NCBI Gene ID | 11214 ncbi.nlm.nih.gov/gene/11214 |
| Ensembl ID | ENSG00000170776 |
| UniProt ID | Q12802 |
| OMIM ID | 604686 |
| HGNC ID | 369 |
| Aliases | BRX, LBC, Ht31, PROTO-LB, c-lbc, AKAP-Lbc |
Description
AKAP13 encodes a member of the A-kinase anchoring protein (AKAP) family. The protein functions as a scaffold that binds protein kinase A (PKA) and also acts as a guanine nucleotide exchange factor (GEF) for RhoA, thereby regulating cytoskeletal dynamics, gene transcription, and cell proliferation. It is involved in cardiac development, vascular function, and oncogenic signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Disruption of AKAP13-mediated RhoA signaling impairs cardiac contractility | OMIM, NCBI |
| Breast cancer | Overexpression and gain-of-function mutations in AKAP13 promote RhoA activation and cell proliferation | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations in AKAP13 alter GEF activity and contribute to tumorigenesis | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 32.1 | Medium |
| Brain | 18.7 | Medium |
| Lung | 12.3 | Low |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 62.4 | High expression |
| HeLa | 41.0 | Medium expression |
| MCF7 | 55.8 | High expression (breast cancer) |
| HCT116 | 38.2 | Medium expression (colorectal cancer) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2570A>G (p.Gln857Arg) | Missense | 0.02% (gnomAD) | Alters RhoA GEF activity |
| c.3124C>T (p.Arg1042Trp) | Missense | 0.01% (COSMIC) | Gain-of-function in breast cancer |
| c.4519_4520insA | Frameshift | <0.01% (ClinVar) | Loss-of-function in dilated cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations reduce RhoA GEF activity, impairing cardiac contractility and leading to dilated cardiomyopathy.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg1042Trp) enhance RhoA activation, promoting cell proliferation and tumorigenesis in breast and colorectal cancers.
Dominant Negative (DN)
Not well characterized; some truncating mutations may exert dominant-negative effects by disrupting PKA anchoring.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005085 - guanyl-nucleotide exchange factor activity |
| • GO:0007264 - small GTPase mediated signal transduction | • GO:0030154 - cell differentiation |
| • GO:0043123 - positive regulation of I-kappaB kinase/NF-kappaB signaling |
Pathways
• RhoA signaling pathway (Reactome: R-HSA-194315)
• PKA-mediated signaling (Reactome: R-HSA-163615)
• Cardiac conduction (KEGG: hsa04260)
Protein Summary
AKAP13 is a 2,813-amino acid scaffold protein that anchors PKA and possesses intrinsic RhoA GEF activity. It localizes to the cytoplasm and plasma membrane, where it integrates cAMP/PKA and RhoA signaling to regulate actin cytoskeleton, cell migration, and gene expression. In the heart, it is essential for normal contractile function; in cancer, its overexpression or mutation drives oncogenic transformation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP13 Knockout HEK293 Cell Line | EDJ-KQ7334 | Human | 11214 | Details Get a Quote |
| AKAP13 Knockout A-549 Cell Line | EDJ-KQ32420 | Human | 11214 | Details Get a Quote |
| AKAP13 Knockout HCT 116 Cell Line | EDJ-KQ32421 | Human | 11214 | Details Get a Quote |
| AKAP13 Knockout HeLa Cell Line | EDJ-KQ32422 | Human | 11214 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
