AKAP8L
A-kinase anchoring protein 8-like
Gene Information Card
| Symbol | AKAP8L |
|---|---|
| Full Name | A-kinase anchoring protein 8-like |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 91693 ncbi.nlm.nih.gov/gene/91693 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9ULX6 |
| OMIM ID | 616747 |
| HGNC ID | 29199 |
| Aliases | N-AKAP95, H_NH0492N24.1 |
Description
AKAP8L encodes a member of the A-kinase anchoring protein (AKAP) family. The protein contains an RII-binding domain that targets protein kinase A (PKA) to subcellular compartments, and a PHD finger domain involved in chromatin binding. AKAP8L localizes to the nuclear envelope and mitotic chromosomes, playing roles in chromatin condensation, nuclear envelope reassembly, and cell cycle regulation. It is also implicated in transcriptional regulation and RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of AKAP8L may promote cell proliferation and migration through PKA signaling and chromatin remodeling. | ClinVar, COSMIC |
| Lung cancer | AKAP8L amplification and altered expression observed; potential role in tumor progression via mitotic defects. | COSMIC, NCBI |
| Developmental disorders | Rare missense variants reported in patients with intellectual disability and congenital anomalies. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Lung | 7.3 | Medium |
| Breast | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK 293 | 14.1 | Embryonic kidney cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| A549 | 10.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1435G>A (p.Gly479Arg) | Missense | <0.01% | Unknown; associated with developmental disorder in ClinVar |
| c.1861_1862insA (p.Thr621Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, potentially impairing chromatin binding and nuclear envelope dynamics.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants in the PHD finger domain may disrupt chromatin binding and exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase A binding | • chromatin binding |
| • zinc ion binding | • nuclear envelope |
| • chromosome | • centromeric region |
| • mitotic spindle | • cell cycle |
| • chromatin remodeling | • nuclear envelope reassembly |
Pathways
• PKA signaling
• Cell cycle
• mitotic
• Chromatin organization
Protein Summary
AKAP8L is a 693-amino acid protein with a molecular weight of approximately 76 kDa. It contains an N-terminal RII-binding domain that anchors PKA, a central PHD finger domain for chromatin interaction, and a C-terminal region involved in nuclear envelope targeting. The protein is expressed in multiple tissues and cell lines, with highest levels in testis and lymph node. It plays key roles in mitotic chromosome condensation, nuclear envelope reassembly, and PKA-mediated signaling. Mutations are rare but have been linked to cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP8L Knockout HEK293 Cell Line | EDJ-KQ8637 | Human | 26993 | 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 |
Displaying Records 1 To 4 Of 4 Records
