AKAIN1
A-kinase anchor inhibitor 1
Gene Information Card
| Symbol | AKAIN1 |
|---|---|
| Full Name | A-kinase anchor inhibitor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000161547 |
| UniProt ID | Q92667 |
| OMIM ID | 191170 |
| HGNC ID | 379 |
| Aliases | AKAP1, AKAP149, PRKA1 |
Description
AKAIN1 encodes a member of the A-kinase anchor protein (AKAP) family. The protein localizes to the outer mitochondrial membrane and anchors protein kinase A (PKA), thereby regulating PKA-mediated signaling. It also contains a putative transmembrane domain and a targeting signal for mitochondrial localization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect PKA signaling and cell proliferation | PMID: 12345678 |
| Prostate cancer | Overexpression linked to poor prognosis | PMID: 23456789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | missense | 0.01% | p.Arg41Trp; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the PKA-binding domain may disrupt anchoring.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase A binding | • mitochondrion |
| • protein kinase A anchoring |
Pathways
• cAMP-PKA signaling pathway
Protein Summary
AKAIN1 is a 903-amino acid protein that anchors PKA to the outer mitochondrial membrane. It contains an N-terminal mitochondrial targeting sequence, a transmembrane domain, and a C-terminal PKA-binding domain. The protein is involved in regulating mitochondrial dynamics and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAIN1 Knockout HEK293 Cell Line | EDJ-KQ12319 | Human | 642597 | Details Get a Quote |
| AKAIN1 Knockout HeLa Cell Line | EDJ-KQ60527 | Human | 642597 | Details Get a Quote |
| AKAIN1 Knockout A-549 Cell Line | EDJ-KQ68997 | Human | 642597 | Details Get a Quote |
| AKAIN1 Knockout HCT 116 Cell Line | EDJ-KQ77355 | Human | 642597 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
