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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AKAIN1
A-kinase anchor inhibitor 1
Chromosome 18 Β· 18p11.31
NCBI Gene: 642597Ensembl: ENSG00000231824.4HGNC: HGNC:28285UniProt: J3KS16
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein kinase A bindingintracellular protein localizationcytosolAbnormality of the skeletal systemadolescent idiopathic scoliosisalcohol drinkingchondromalacia
✦AI Summary

AKAIN1 (A-kinase anchor inhibitor 1) is a PKA-binding protein that functions as a negative regulator of protein kinase A (PKA) subcellular localization. The protein binds specifically to type II regulatory subunits of PKA and blocks AKAP-mediated subcellular targeting of PKA 1, effectively disrupting the normal PKA-AKAP interaction mechanism that directs kinase activity to specific cellular compartments. This inhibitory function suggests AKAIN1 acts as an endogenous disruptor peptide for PKA signaling. AKAIN1 is preferentially expressed in neural tissues 1. The gene has emerged as a potential disease biomarker in two contexts: downregulation in Alzheimer's disease pathology, where it was identified as one of two down-regulated genes among key differentially expressed genes in the entorhinal cortex and may participate in inflammatory pathway dysregulation 2; and elevated expression in multiple myeloma, where high AKAIN1 levels correlate with poor prognostic indicators including increased International Staging System stage, reduced treatment response rates, and shortened progression-free and overall survival 3. These findings indicate AKAIN1 functions as a negative regulator of PKA signaling with potential clinical relevance in neurodegenerative and hematologic malignancies, though the mechanistic basis for its expression changes in disease remains to be elucidated.

Sources cited
1
AKAIN1 (C18orf42) binds specifically to type II PKA regulatory subunits and blocks AKAP-mediated PKA subcellular localization; preferentially expressed in neural tissues
PMID: 25653177
2
AKAIN1 is downregulated in Alzheimer's disease in the entorhinal cortex and participates in inflammatory pathways
PMID: 36672701
3
AKAIN1 is elevated in multiple myeloma and high expression correlates with poor prognosis, reduced treatment response, and shortened survival
PMID: 32799782
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.34Weak
adolescent idiopathic scoliosisOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.32Weak
chondromalaciaOpen Targets
0.30Weak
gram-positive bacterial infectionsOpen Targets
0.25Weak
Nasal polyposisOpen Targets
0.25Weak
connective tissue neoplasmOpen Targets
0.25Weak
liver diseaseOpen Targets
0.22Weak
bone neoplasmOpen Targets
0.20Weak
medical procedureOpen Targets
0.19Weak
complicationOpen Targets
0.18Weak
trauma complicationOpen Targets
0.18Weak
glomerulonephritisOpen Targets
0.13Weak
Tietze syndromeOpen Targets
0.12Weak
pneumonitisOpen Targets
0.12Weak
central nervous system cancerOpen Targets
0.04Suggestive
adrenal gland diseaseOpen Targets
0.03Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.03Suggestive
retinal degenerationOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PHYHIPShared pathway100%AKAP10Shared pathway100%ODR4Shared pathway100%PRR12Shared pathway100%TNS4Shared pathway100%STK11IPShared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
15%
Bone Marrow
3%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
AKAIN1PHYHIPAKAP10ODR4PRR12TNS4STK11IP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0CW23
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.51LoF Tolerant
pLIβ“˜
0.11Tolerant
Observed/Expected LoF0.60 [0.27–1.51]
RankingsWhere AKAIN1 stands among ~20K protein-coding genes
  • #18,803of 20,598
    Most Researched3
  • #15,207of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedAKAIN1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
A Proximity Labeling Strategy Provides Insights into the Composition and Dynamics of Lipid Droplet Proteomes.
PMID: 29275994
Dev Cell Β· 2018
1.00
2
The Inflammatory Gene
PMID: 36672701
Biomedicines Β· 2023
0.75
3
Hypothetical gene C18orf42 encodes a novel protein kinase A-binding protein.
PMID: 25653177
Genes Cells Β· 2015
0.50
4
Correlation of A-Kinase Interacting Protein 1 With Clinical Features, Treatment Response, and Survival Profiles in Patients With Multiple Myeloma.
PMID: 32799782
Technol Cancer Res Treat Β· 2020
0.25