AKAP8: A-Kinase Anchoring Protein 8
Scaffold Protein in Nuclear and Mitotic Regulation
Gene Information Card
| Symbol | AKAP8 |
|---|---|
| Full Name | A-kinase anchoring protein 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 10270 ncbi.nlm.nih.gov/gene/10270 |
| Ensembl ID | ENSG00000105127 |
| UniProt ID | Q9UKA1 |
| OMIM ID | 604692 |
| HGNC ID | 374 |
| Aliases | AKAP95, DKFZp686I04196 |
Description
AKAP8 (A-kinase anchoring protein 8), also known as AKAP95, encodes a scaffold protein that anchors protein kinase A (PKA) and other signaling molecules. It localizes to the nuclear envelope and mitotic chromosomes, playing roles in nuclear organization, chromatin condensation, and cell cycle progression. AKAP8 is involved in regulating transcription and mitotic spindle assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of AKAP8 expression may alter PKA signaling and chromatin dynamics, promoting proliferation. | COSMIC; literature review |
| Breast cancer | Overexpression of AKAP8 correlates with poor prognosis; potential role in mitotic defects. | ClinVar; COSMIC |
| Colorectal cancer | AKAP8 mutations and altered expression linked to tumor progression. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 17.2 | Medium |
| Lymph node | 14.5 | Medium |
| Spleen | 13.8 | Medium |
| Bone marrow | 12.1 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 14.1 | Leukemia cell line |
| HEK 293 | 12.7 | Embryonic kidney cell line |
| MCF7 | 11.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | <0.1% | Unknown functional impact |
| c.1450_1451insA (p.Thr484Asnfs*5) | Frameshift | <0.1% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr484Asnfs*5) likely truncate the protein, disrupting PKA anchoring and nuclear localization.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in AKAP8.
Dominant Negative (DN)
Not established; missense variants may interfere with wild-type function but evidence is lacking.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm | • GO:0005819 - spindle |
| • GO:0030529 - intracellular ribonucleoprotein complex | • GO:0051015 - actin filament binding |
| • GO:0051402 - neuron apoptotic process |
Pathways
• PKA-mediated signaling
• Mitotic cell cycle
• Chromatin organization
Protein Summary
AKAP8 (AKAP95) is a 691-amino acid scaffold protein that anchors PKA and other signaling proteins to subcellular compartments. It contains a PKA-binding domain, a nuclear localization signal, and a chromatin-binding region. During mitosis, AKAP8 associates with chromosomes and the mitotic spindle, facilitating proper chromosome segregation. It also interacts with RNA and may regulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP8 Knockout HEK293 Cell Line | EDJ-KQ6984 | Human | 10270 | Details Get a Quote |
| AKAP8L Knockout HEK293 Cell Line | EDJ-KQ8637 | Human | 26993 | Details Get a Quote |
| AKAP8 Knockout A-549 Cell Line | EDJ-KQ31691 | Human | 10270 | Details Get a Quote |
| AKAP8 Knockout HCT 116 Cell Line | EDJ-KQ31692 | Human | 10270 | Details Get a Quote |
| AKAP8 Knockout HeLa Cell Line | EDJ-KQ31693 | Human | 10270 | Details Get a Quote |
| AKAP8L Knockout A-549 Cell Line | EDJ-KQ34804 | Human | 26993 | Details Get a Quote |
| AKAP8L Knockout HCT 116 Cell Line | EDJ-KQ34805 | Human | 26993 | Details Get a Quote |
| AKAP8L Knockout HeLa Cell Line | EDJ-KQ34806 | Human | 26993 | Details Get a Quote |
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