AKAP1: A-Kinase Anchoring Protein 1
Mitochondrial scaffold protein regulating cAMP signaling and mitochondrial dynamics
Gene Information Card
| Symbol | AKAP1 |
|---|---|
| Full Name | A-kinase anchoring protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 8165 ncbi.nlm.nih.gov/gene/8165 |
| Ensembl ID | ENSG00000121057 |
| UniProt ID | Q92667 |
| OMIM ID | 602449 |
| HGNC ID | 367 |
| Aliases | AKAP149, AKAP121, D-AKAP1, PRKA1 |
Description
AKAP1 (A-kinase anchoring protein 1) encodes a scaffold protein that targets protein kinase A (PKA) to the outer mitochondrial membrane. It regulates cAMP-dependent signaling, mitochondrial dynamics, and apoptosis. Alternative splicing produces isoforms with distinct subcellular localizations and functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Impaired mitochondrial PKA signaling and oxidative stress | PMID: 23429263 |
| Neurodegenerative disorders | Dysregulation of mitochondrial fission/fusion and apoptosis | PMID: 25678563 |
| Cancer | Altered AKAP1 expression affects mitochondrial metabolism and cell survival | PMID: 28411379 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Skeletal muscle | 15.2 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| SH-SY5Y | 9.2 | Neuroblastoma cell line |
| HepG2 | 7.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.001% | Unknown |
| c.1246G>A (p.Gly416Ser) | Missense | 0.002% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in PKA anchoring and mitochondrial signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005739 - mitochondrion |
| • GO:0030529 - intracellular ribonucleoprotein complex | • GO:0051018 - protein kinase A binding |
| • GO:0043025 - neuronal cell body |
Pathways
• cAMP/PKA signaling pathway
• Mitochondrial dynamics and apoptosis
Protein Summary
AKAP1 is a 903-amino acid scaffold protein that anchors PKA and other signaling molecules to the mitochondrial outer membrane. It contains an N-terminal mitochondrial targeting sequence, a PKA-binding domain, and a C-terminal region that interacts with phosphatases and other effectors. Isoforms vary in length and tissue distribution, influencing mitochondrial morphology, respiration, and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP11 Knockout HEK293 Cell Line | EDJ-KQ3851 | Human | 11215 | Details Get a Quote |
| AKAP12 Knockout HEK293 Cell Line | EDJ-KQ6648 | Human | 9590 | Details Get a Quote |
| AKAP10 Knockout HEK293 Cell Line | EDJ-KQ6696 | Human | 11216 | Details Get a Quote |
| AKAP13 Knockout HEK293 Cell Line | EDJ-KQ7334 | Human | 11214 | Details Get a Quote |
| AKAP19 Knockout HEK293 Cell Line | EDJ-KQ9258 | Human | 84281 | Details Get a Quote |
| AKAP14 Knockout HEK293 Cell Line | EDJ-KQ12320 | Human | 158798 | 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 |
| AKAP12 Knockout A-549 Cell Line | EDJ-KQ30934 | Human | 9590 | Details Get a Quote |
| AKAP12 Knockout HCT 116 Cell Line | EDJ-KQ30935 | Human | 9590 | Details Get a Quote |
| AKAP12 Knockout HeLa Cell Line | EDJ-KQ30936 | Human | 9590 | Details Get a Quote |
| AKAP19 Knockout A-549 Cell Line | EDJ-KQ37077 | Human | 84281 | Details Get a Quote |
| AKAP19 Knockout HCT 116 Cell Line | EDJ-KQ37079 | Human | 84281 | Details Get a Quote |
| AKAP13 Knockout A-549 Cell Line | EDJ-KQ32420 | Human | 11214 | Details Get a Quote |
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