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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDR1
WD repeat domain 1
Chromosome 4 Β· 4p16.1
NCBI Gene: 9948Ensembl: ENSG00000071127.18HGNC: HGNC:12754UniProt: A0A8V8TP22
160PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell-cell junctionapical junction assemblycell junctionprotein bindingperiodic fever, immunodeficiency, and thrombocytopenia syndromegoutatrial fibrillationneurodegenerative disease
✦AI Summary

WDR1 (WD repeat domain 1) is a cytoskeletal regulatory protein that primarily functions to induce actin filament disassembly in conjunction with ADF/cofilin family proteins 1. The protein preferentially promotes disassembly of ADF/cofilin-decorated actin filaments while exhibiting minimal effects on bare actin filaments, serving as more than just an ancillary co-factor but as a major regulator of actin dynamics 1. WDR1 mediates its effects through direct protein interactions, including binding to YAP protein via its N-terminal domain, which inhibits YAP phosphorylation and promotes YAP transcriptional activity 2. The protein plays critical roles in cellular processes including cytokinesis, cell migration, and cytoskeletal remodeling 3. Disease relevance includes periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFIT), where homozygous WDR1 mutations cause impaired actin dynamics, increased inflammasome activity, and elevated IL-18 secretion 4. WDR1 has also been implicated in cancer progression, serving as a therapeutic target in glioma where small molecule inhibitors can disrupt WDR1-dependent cytoskeletal remodeling 5, and in pancreatic cancer metastasis through exosome-mediated mechanisms 2. Additionally, WDR1 polymorphisms correlate with metabolic parameters in certain populations 6.

Sources cited
1
WDR1 induces actin filament disassembly with ADF/cofilin and preferentially acts on cofilin-decorated filaments
PMID: 29056508
2
WDR1 N-terminal binds YAP protein, inhibits YAP phosphorylation, and promotes YAP transcriptional activity
PMID: 38291031
3
WDR1 regulates proliferation and migration of non-small-cell lung cancer cells through YAP signaling
PMID: 35861209
4
Homozygous WDR1 mutations cause PFIT syndrome with impaired actin dynamics and increased inflammasome activity
PMID: 27994071
5
WDR1 serves as therapeutic target in glioma through cytoskeletal remodeling mechanisms
PMID: 37935665
6
WDR1 polymorphisms correlate with serum glucose levels in Tibetan gout patients
PMID: 26438387
Disease Associationsβ“˜21
periodic fever, immunodeficiency, and thrombocytopenia syndromeOpen Targets
0.70Strong
goutOpen Targets
0.55Moderate
atrial fibrillationOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
intellectual developmental disorder 61Open Targets
0.42Moderate
response to ustekinumabOpen Targets
0.40Weak
lymphoid leukemiaOpen Targets
0.38Weak
alcohol drinkingOpen Targets
0.36Weak
diabetes mellitusOpen Targets
0.32Weak
smoking initiationOpen Targets
0.32Weak
ovarian dysfunctionOpen Targets
0.31Weak
urinary system diseaseOpen Targets
0.31Weak
pyelonephritisOpen Targets
0.30Weak
psoriatic arthritisOpen Targets
0.27Weak
SplenomegalyOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
peripheral vascular diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.17Weak
acute tonsillitisOpen Targets
0.17Weak
Periodic fever, immunodeficiency, and thrombocytopenia syndromeUniProt
Pathogenic Variants8
NM_017491.5(WDR1):c.392T>G (p.Phe131Cys)Pathogenic
Intellectual developmental disorder 61
β˜†β˜†β˜†β˜†2020β†’ Residue 131
NM_017491.5(WDR1):c.16AAG[1] (p.Lys7del)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 7
NM_017491.5(WDR1):c.1270G>A (p.Val424Met)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 424
NM_017491.5(WDR1):c.361G>A (p.Gly121Arg)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 121
NM_017491.5(WDR1):c.856C>G (p.Leu286Val)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 286
NM_017491.5(WDR1):c.435C>G (p.His145Gln)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 145
NM_017491.5(WDR1):c.1715A>T (p.Asp572Val)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 572
NM_017491.5(WDR1):c.877C>T (p.Leu293Phe)Pathogenic
Lazy leukocyte syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 293
View on ClinVar β†—
Related Genes
CFL1Protein interaction99%ACTBProtein interaction99%ACTG1Protein interaction98%CAP1Protein interaction86%TLN1Protein interaction85%ACTR3Protein interaction81%
Tissue Expression6 tissues
Lung
100%
Heart
75%
Ovary
64%
Bone Marrow
61%
Brain
48%
Liver
39%
Gene Interaction Network
Click a node to explore
WDR1CFL1ACTBACTG1CAP1TLN1ACTR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75083
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.31 [0.22–0.45]
RankingsWhere WDR1 stands among ~20K protein-coding genes
  • #2,821of 20,598
    Most Researched160 Β· top quartile
  • #3,038of 5,498
    Most Pathogenic Variants8
  • #2,501of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedWDR1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The tumor-enriched small molecule gambogic amide suppresses glioma by targeting WDR1-dependent cytoskeleton remodeling.
PMID: 37935665
Signal Transduct Target Ther Β· 2023
1.00
2
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
PMID: 38951460
Am J Clin Dermatol Β· 2024
0.92
3
Exosome-derived tRNA fragments tRF-GluCTC-0005 promotes pancreatic cancer liver metastasis by activating hepatic stellate cells.
PMID: 38291031
Cell Death Dis Β· 2024
0.90
4
WDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients.
PMID: 26438387
Rheumatol Int Β· 2016
0.80
5
Serine/Threonine Protein Kinase STK16.
PMID: 30974739
Int J Mol Sci Β· 2019
0.70