AKAP14: A-Kinase Anchoring Protein 14
A scaffold protein regulating PKA signaling in cilia and sperm flagella
Gene Information Card
| Symbol | AKAP14 |
|---|---|
| Full Name | A-Kinase Anchoring Protein 14 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 112476 ncbi.nlm.nih.gov/gene/112476 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q9P0M6 |
| OMIM ID | 300697 |
| HGNC ID | 24079 |
| Aliases | AKAP28, PRKA14, D-AKAP2 |
Description
AKAP14 encodes a member of the A-kinase anchoring protein (AKAP) family that binds to the regulatory subunit of protein kinase A (PKA) and targets it to specific subcellular compartments. This protein is localized to cilia and flagella, where it anchors PKA to the axoneme, regulating motility and signaling. It is essential for proper ciliary beat frequency and sperm flagellar function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Disruption of PKA anchoring in cilia impairs ciliary beat regulation, leading to mucociliary clearance defects. | ClinVar; PMID: 25982992 |
| Male Infertility (sperm motility defects) | Loss of AKAP14 in sperm flagella reduces PKA-mediated phosphorylation required for flagellar movement. | UniProt; PMID: 15601830 |
| Asthenozoospermia | Reduced AKAP14 expression correlates with decreased sperm motility. | NCBI Gene; PMID: 21949892 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lung | 12.5 | Medium |
| Trachea | 9.8 | Medium |
| Fallopian Tube | 7.1 | Medium |
| Brain (cerebellum) | 2.3 | Low |
| Heart | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 (retinal pigment epithelium) | 15.4 | Ciliated cell line; high expression |
| BEAS-2B (bronchial epithelial) | 11.2 | Airway ciliated cell line |
| Hela (cervical carcinoma) | 0.8 | Non-ciliated; low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Non-ciliated; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.01% | Premature stop; loss of PKA-binding domain |
| c.287G>A (p.Gly96Asp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.451_452del (p.Leu151fs) | Frameshift | <0.01% | Loss of C-terminal targeting domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg42*, p.Leu151fs) lead to truncated proteins lacking PKA-binding or targeting domains, resulting in loss of PKA anchoring at cilia/flagella.
Gain of Function (GOF)
No gain-of-function mutations reported for AKAP14.
Dominant Negative (DN)
No dominant-negative mutations reported; AKAP14 is X-linked, so hemizygous males are fully affected by loss-of-function alleles.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0051019 - protein kinase A anchoring |
| • GO:0005929 - cilium | • GO:0036126 - sperm flagellum |
| • GO:0005856 - cytoskeleton | • GO:0035556 - intracellular signal transduction |
Pathways
• PKA-mediated signaling in cilia (Reactome: R-HSA-163615)
• cAMP-dependent protein kinase anchoring (Reactome: R-HSA-164378)
Protein Summary
AKAP14 is a 28 kDa A-kinase anchoring protein that localizes to the axoneme of cilia and flagella. It contains an N-terminal PKA regulatory subunit-binding domain and a C-terminal targeting domain that directs it to microtubule-based structures. By anchoring PKA near its substrates, AKAP14 regulates phosphorylation events critical for ciliary beat frequency, mucociliary clearance, and sperm motility. The protein is highly expressed in testis and lung, consistent with its roles in sperm flagella and airway cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP14 Knockout HEK293 Cell Line | EDJ-KQ12320 | Human | 158798 | Details Get a Quote |
| AKAP14 Knockout HeLa Cell Line | EDJ-KQ58790 | Human | 158798 | Details Get a Quote |
| AKAP14 Knockout A-549 Cell Line | EDJ-KQ67274 | Human | 158798 | Details Get a Quote |
| AKAP14 Knockout HCT 116 Cell Line | EDJ-KQ75674 | Human | 158798 | Details Get a Quote |
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