HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDHD1
WD repeat and HMG-box DNA binding protein 1
Chromosome 14 · 14q22.2-q22.3
NCBI Gene: 11169Ensembl: ENSG00000198554.13HGNC: HGNC:23170UniProt: O75717
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingmitotic cell cyclechromatin bindingAlzheimer diseaseParkinson diseaseneurodegenerative diseasemultiple sclerosis
✦AI Summary

WDHD1 is a core replisome component functioning as a replication initiation factor that binds directly to the CMG helicase complex to recruit additional proteins to the replication fork 1. It integrates the MCM2-7 helicase with DNA polymerase α/primase during DNA replication initiation 2. WDHD1 also plays roles in DNA damage repair and chromosome 14 3. Mechanistically, WDHD1 expression is regulated by transcriptional pathways including ZBTB16-mediated suppression and JAK1-STAT3 signaling 45. The protein coordinates replisome progression and facilitates DNA strand separation at replication forks 1. Clinically, WDHD1 is significantly overexpressed in multiple cancer types including lung adenocarcinoma, nasopharyngeal carcinoma, and esophageal squamous cell carcinoma 465. Elevated WDHD1 expression correlates with shorter overall survival in 10 tumor types and higher histological grades 3. Notably, WDHD1 contributes to HPV-mediated oncogenesis by promoting G1 checkpoint abrogation and rereplication 7. WDHD1 inhibition via ZBTB16 or small molecules induces cell cycle arrest, DNA damage, and apoptosis 45, making WDHD1 a promising therapeutic target for cancer treatment and potentially sensitizing tumors to chemotherapy and radiotherapy through disruption of DNA repair pathways 8.

Sources cited
1
WDHD1 binds to CMG helicase and recruits proteins to replication fork; coordinates with multiple replisome components
PMID: 34694004
2
WDHD1 is essential for DNA replication initiation and cell proliferation during mouse embryogenesis
PMID: 33716172
3
WDHD1 is overexpressed in >20 cancer types; elevated expression correlates with poor prognosis and shorter overall survival in 10 tumors
PMID: 37759234
4
ZBTB16 suppresses WDHD1 transcription; WDHD1 overexpression promotes lung adenocarcinoma cell proliferation and reverses ZBTB16-mediated growth inhibition
PMID: 38654107
5
WDHD1 is overexpressed in nasopharyngeal carcinoma and regulates ITGAV expression; associated with cell cycle regulation
PMID: 36345604
6
WDHD1 is a downstream target of JAK1-STAT3 signaling in esophageal squamous cell carcinoma; its knockdown induces DNA damage response
PMID: 40021097
7
WDHD1 is upregulated in HPV E7-expressing cells; promotes G1 checkpoint abrogation and rereplication contributing to genomic instability
PMID: 27099318
8
WDHD1 functions as a key adaptor for homologous recombination DNA repair; potential therapeutic target for WDHD1 degradation
PMID: 38349257
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
Abnormality of limbsOpen Targets
0.31Weak
ArthropathyOpen Targets
0.14Weak
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
joint diseaseOpen Targets
0.08Suggestive
osteoarthritisOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
mathematical abilityOpen Targets
0.06Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
bladder transitional cell carcinomaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FEN1Protein interaction100%MRC1Protein interaction100%POLEProtein interaction100%TIMELESSProtein interaction100%RECQL4Protein interaction100%PIEZO1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
49%
Ovary
13%
Heart
12%
Lung
10%
Liver
4%
Gene Interaction Network
Click a node to explore
WDHD1FEN1MRC1POLETIMELESSRECQL4PIEZO1
PROTEIN STRUCTURE
Preparing viewer…
PDB5GVA · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.65–0.92]
RankingsWhere WDHD1 stands among ~20K protein-coding genes
  • #4,507of 20,598
    Most Researched106 · top quartile
  • #8,484of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedWDHD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of a human replisome shows the organisation and interactions of a DNA replication machine.
PMID: 34694004
EMBO J · 2021
1.00
2
ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma.
PMID: 38654107
Oncogene · 2024
0.90
3
WDHD1 is over-expressed in nasopharyngeal carcinoma and may control the expression of ITGAV.
PMID: 36345604
FEBS Open Bio · 2023
0.80
4
Exploring the novel role and mechanistic insights of skeletal muscle relaxant cyclobenzaprine hydrochloride in esophageal squamous cell carcinoma treatment.
PMID: 40021097
Eur J Pharm Sci · 2025
0.70
5
Integrative bioinformatics analysis of WDHD1: a potential biomarker for pan-cancer prognosis, diagnosis, and immunotherapy.
PMID: 37759234
World J Surg Oncol · 2023
0.60