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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADCK1
aarF domain containing kinase 1
Chromosome 14 · 14q24.3
NCBI Gene: 57143Ensembl: ENSG00000063761.17HGNC: HGNC:19038UniProt: Q86TW2
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of cristae formationnegative regulation of mitochondrial fusionmitochondrionmitochondrion organizationneurodegenerative diseaseovarian dysfunctionsquamous cell carcinomainsomnia
✦AI Summary

ADCK1 (AarF domain-containing kinase 1) is a mitochondrial protein essential for maintaining mitochondrial structural integrity and function. Mechanistically, ADCK1 operates in a kinase-independent manner through interaction with YME1L1 to regulate critical mitochondrial proteins OPA1 and IMMT, controlling mitochondrial cristae formation, dynamics, and membrane organization 1. ADCK1 depletion disrupts mitochondrial function, reducing membrane potential, ATP production, and increasing reactive oxygen species and apoptosis 12. The protein also regulates calcium signaling pathways affecting mitochondrial oxidative phosphorylation 3. Clinically, ADCK1 dysregulation is implicated in multiple pathologies. ADCK1 is upregulated in osteosarcoma and promotes cell proliferation and migration; ADCK1 depletion inhibits tumor growth and sensitizes cells to doxorubicin-induced apoptosis 2. In colon cancer, ADCK1 activates β-catenin/TCF signaling to promote cell growth and migration 4. Mutations in ADCK1 have been detected in parathyroid carcinoma 5. Additionally, genetic variants in ADCK1 may predict paliperidone efficacy in schizophrenia treatment 6, and ADCK1 has been identified as a protein associated with suicide attempt risk 7. These findings establish ADCK1 as both a fundamental regulator of mitochondrial homeostasis and a potential therapeutic target in cancer and neuropsychiatric disorders.

Sources cited
1
ADCK1 works via YME1L1 in kinase-independent manner to regulate OPA1 and IMMT, controlling mitochondrial cristae structure and function; ADCK1 knockdown causes decreased membrane potential, ATP production, and increased ROS/apoptosis
PMID: 31125351
2
ADCK1 is upregulated in osteosarcoma; ADCK1 depletion inhibits cell proliferation/migration, induces apoptosis, disrupts mitochondrial function, and sensitizes to doxorubicin; ADCK1 knockout inhibits xenograft growth
PMID: 36371387
3
ADCK1 is upregulated in colon cancer; ADCK1 interacts with TCF4 to activate β-catenin/TCF signaling, promoting cancer cell colony formation, infiltration, and migration
PMID: 33824271
4
FOXQ1 regulates brain endothelial mitochondrial function through ADCK1-dependent cristae organization, establishing ADCK1's role in mitochondrial structural integrity
PMID: 40884816
5
Recurrent mutations in ADCK1 gene have been detected in parathyroid carcinoma
PMID: 35282432
6
Genetic variants in ADCK1 (rs56240334) may predict paliperidone efficacy in schizophrenia treatment
PMID: 27846195
7
ADCK1 was identified as one of ten proteins associated with suicide attempt risk through integrated proteomic and genomic analysis
PMID: 38317018
8
Drosophila ADCK1 mutants show larval lethality with tracheal defects; ADCK1 is necessary in trachea for viability; may contribute to ecdysone levels or intracellular lipid trafficking
PMID: 31175694
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
squamous cell carcinomaOpen Targets
0.28Weak
insomniaOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.25Weak
chondromalaciaOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.24Weak
Townes-Brocks syndromeOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
asthmaOpen Targets
0.03Suggestive
shoulder fractureOpen Targets
0.03Suggestive
posterior cortical atrophyOpen Targets
0.03Suggestive
drug allergyOpen Targets
0.02Suggestive
clavicle fractureOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
ArthropathyOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COQ3Protein interaction83%ATAD3CShared pathway33%TLCD4Shared pathway33%CCDC127Shared pathway33%PYROXD2Shared pathway33%ATAD3BShared pathway33%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
77%
Heart
72%
Ovary
64%
Lung
54%
Brain
40%
Gene Interaction Network
Click a node to explore
ADCK1COQ3ATAD3CTLCD4CCDC127PYROXD2ATAD3B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86TW2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.53–0.92]
RankingsWhere ADCK1 stands among ~20K protein-coding genes
  • #12,292of 20,598
    Most Researched28
  • #8,385of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedADCK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics and Epigenetics of Parathyroid Carcinoma.
PMID: 35282432
Front Endocrinol (Lausanne) · 2022
1.00
2
Functional analysis of Aarf domain-containing kinase 1 in Drosophila melanogaster.
PMID: 31175694
Dev Dyn · 2019
0.90
3
ADCK1 is a potential therapeutic target of osteosarcoma.
PMID: 36371387
Cell Death Dis · 2022
0.80
4
Genome-wide association study of paliperidone efficacy.
PMID: 27846195
Pharmacogenet Genomics · 2017
0.70
5
Identifying novel proteins for suicide attempt by integrating proteomes from brain and blood with genome-wide association data.
PMID: 38317018
Neuropsychopharmacology · 2024
0.60