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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KHDC1
KH domain containing 1
Chromosome 6 · 6q13
NCBI Gene: 80759Ensembl: ENSG00000135314.15HGNC: HGNC:21366UniProt: Q4VXA5
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingcytoplasmmembranePhlebitisThrombophlebitissmoking initiationAbruptio Placentae
✦AI Summary

KHDC1 (KH domain containing 1) is an RNA-binding protein localized to the cytoplasm that plays complex roles in cell proliferation and apoptosis regulation. As a member of the KHDC family, KHDC1A functions as a translational repressor through its KH domain, with N-terminal and C-terminal regions required for activity 1. The protein localizes to the endoplasmic reticulum and induces caspase-3-dependent apoptosis via ER-specific signaling pathways 1. In contrast, KHDC1L, another family member, promotes cell proliferation and inhibits apoptosis in head and neck squamous cell carcinoma (HNSCC) through PI3K-AKT and Bcl-2 pathways, elevating pAKT/AKT and Bcl-2 levels while decreasing Caspase-3 activity 2. KHDC1 represents a unique eutherian mammalian gene family with high expression in oocytes and reproductive tissues 1. Clinically, KHDC1 dysregulation is associated with multiple cancer types: KHDC1L overexpression in HNSCC suggests potential as a diagnostic and therapeutic target 2, while KHDC1 variants on chromosome 6 show genetic association with actinic keratosis risk 3. Additionally, eccDNA-derived KHDC1 sequences are aberrantly expressed in lung adenocarcinoma tissues 4, though their specific biomarker utility remains unclear.

Sources cited
1
KHDC1A is an RNA-binding protein with KH domain that functions as a translational repressor, induces ER-dependent apoptosis through caspase-12, and requires N- and C-termini for activity
PMID: 22731819
2
KHDC1L is overexpressed in HNSCC, promotes proliferation and inhibits apoptosis via PI3K-AKT and Bcl-2 pathways, with potential as diagnostic/therapeutic target
PMID: 36734243
3
KHDC1 genetic variants on chromosome 6q13 show significant association with actinic keratosis risk through compound heterozygosity analysis
PMID: 27646882
4
CircD-KHDC1 is among the top-ten decreased eccDNAs in lung adenocarcinoma tissues
PMID: 35441736
5
KHDC1 is a reproduction-related gene family unique to eutherian mammals with high expression in oocytes
PMID: 19129511
Disease Associationsⓘ20
PhlebitisOpen Targets
0.34Weak
ThrombophlebitisOpen Targets
0.34Weak
smoking initiationOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.32Weak
Abnormality of the gastrointestinal tractOpen Targets
0.26Weak
disease of peritoneumOpen Targets
0.26Weak
HypermetropiaOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.04Suggestive
myopiaOpen Targets
0.03Suggestive
Progressive visual lossOpen Targets
0.02Suggestive
muscular diseaseOpen Targets
0.02Suggestive
refractive errorOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
injuryOpen Targets
0.02Suggestive
glomerulonephritisOpen Targets
0.02Suggestive
ArthropathyOpen Targets
0.02Suggestive
brucellosisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
facioscapulohumeral muscular dystrophyOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KHDC3LProtein interaction99%DPPA5Protein interaction98%OOEPProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Ovary
92%
Bone Marrow
82%
Lung
24%
Heart
20%
Liver
3%
Gene Interaction Network
Click a node to explore
KHDC1KHDC3LDPPA5OOEP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4VXA5
View on AlphaFold ↗
RankingsWhere KHDC1 stands among ~20K protein-coding genes
  • #17,080of 20,598
    Most Researched10
Genes detectedKHDC1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Differential expression and analysis of extrachromosomal circular DNAs as serum biomarkers in lung adenocarcinoma.
PMID: 35441736
J Clin Lab Anal · 2022
1.00
2
Upregulation of KHDC1L promotes the proliferation and inhibits apoptosis in head and neck squamous cell carcinoma.
PMID: 36734243
Epigenetics · 2023
0.80
3
Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution.
PMID: 19129511
Biol Reprod · 2009
0.60
4
KHDC1A, a novel translational repressor, induces endoplasmic reticulum-dependent apoptosis.
PMID: 22731819
DNA Cell Biol · 2012
0.40
5
Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis.
PMID: 27646882
J Invest Dermatol · 2017
0.20