HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 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.
PADI3
peptidyl arginine deiminase 3
Chromosome 1 Β· 1p36.13
NCBI Gene: 51702Ensembl: ENSG00000142619.4HGNC: HGNC:18337UniProt: Q9ULW8
39PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmcytosolprotein bindingidentical protein bindinguncombable hair syndromecentral centrifugal cicatricial alopeciahair colorgenetic disorder
✦AI Summary

PADI3 (peptidyl arginine deiminase 3) catalyzes citrullination, the post-translational conversion of arginine residues to citrulline in target proteins 1. The enzyme is predominantly expressed in keratinocytes of the epidermis and inner root sheath of hair follicles, where it modifies key structural proteins including filaggrin and trichohyalin 12. PADI3 expression is transcriptionally regulated by NF-Y and Sp1/Sp3 transcription factors binding to its promoter 1. Beyond epidermal function, PADI3 participates in metabolic reprogramming through PKM2 citrullination, regulating glycolytic enzyme activity and cancer cell proliferation 3. The enzyme acts as a tumor suppressor in colon cancer by promoting CKS1 degradation and inhibiting epithelial-mesenchymal transition 4. PADI3 also regulates endometrial cancer progression via ERK signaling and glycolysis modulation 5. Diseases associated with PADI3 dysfunction include uncombable hair syndrome, caused by biallelic pathogenic variants that impair enzyme activity or localization, affecting hair shaft formation 62. PADI3 variants are also associated with central centrifugal cicatricial alopecia and genetic risk for chr1 pulmonary disease through vimentin citrullination 27. Reduced PADI3 expression may contribute to psoriasis and atopic dermatitis pathogenesis 2, and downregulation occurs in alopecia areata lesions 8.

Sources cited
1
PADI3 converts arginine to citrulline; expression in keratinocytes and hair follicles; transcriptional regulation by NF-Y and Sp1/Sp3
PMID: 16671893
2
PADI3 role in epidermal barrier and hair formation; association with uncombable hair syndrome and central centrifugal cicatricial alopecia; involvement in psoriasis and atopic dermatitis
PMID: 37778378
3
PADI3-mediated PKM2 citrullination regulates glycolysis and cancer cell proliferation
PMID: 33741961
4
PADI3 acts as tumor suppressor in colon cancer by promoting CKS1 degradation and inhibiting epithelial-mesenchymal transition
PMID: 39206995
5
PADI3 regulates endometrial cancer progression through ERK signaling pathway and glycolysis
PMID: 38474453
6
Biallelic PADI3 pathogenic variants cause uncombable hair syndrome; 71% of UHS cases associated with PADI3 mutations
PMID: 36044230
7
PADI3/PADI4 genetic variants associated with citrullinated vimentin levels and chronic pulmonary disease risk
PMID: 38155185
8
PADI3 downregulated in alopecia areata lesional scalp
PMID: 40748556
Disease Associationsβ“˜21
uncombable hair syndromeOpen Targets
0.72Strong
central centrifugal cicatricial alopeciaOpen Targets
0.51Moderate
hair colorOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.19Weak
ringed hair diseaseOpen Targets
0.08Suggestive
interstitial lung diseaseOpen Targets
0.08Suggestive
endometrial cancerOpen Targets
0.07Suggestive
pili bifurcatiOpen Targets
0.06Suggestive
pili geminiOpen Targets
0.06Suggestive
pili tortiOpen Targets
0.06Suggestive
isolated familial wooly hair disorderOpen Targets
0.06Suggestive
Woolly hairOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
uncombable hair syndrome 3Open Targets
0.06Suggestive
uncombable hair syndrome 2Open Targets
0.06Suggestive
Bjornstad syndromeOpen Targets
0.06Suggestive
BjΓΆrnstad syndromeOpen Targets
0.06Suggestive
wooly hair, autosomal recessive 3Open Targets
0.05Suggestive
Hypodontia - dysplasia of nailsOpen Targets
0.05Suggestive
tooth and nail syndromeOpen Targets
0.05Suggestive
Uncombable hair syndrome 1UniProt
Pathogenic Variants8
NM_016233.2(PADI3):c.335T>A (p.Leu112His)Pathogenic
Uncombable hair syndrome 1|not provided|PADI3-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 112
NM_016233.2(PADI3):c.1669C>T (p.Arg557Trp)Pathogenic
Central centrifugal cicatricial alopecia|Uncombable hair syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 557
NM_016233.2(PADI3):c.274-2A>GPathogenic
Uncombable hair syndrome 1
β˜…β˜†β˜†β˜†2025
NM_016233.2(PADI3):c.505C>T (p.Gln169Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 169
NM_016233.2(PADI3):c.832-2A>GPathogenic
Central centrifugal cicatricial alopecia
β˜…β˜†β˜†β˜†2018
NM_016233.2(PADI3):c.628C>T (p.Arg210Trp)Pathogenic
Central centrifugal cicatricial alopecia
β˜…β˜†β˜†β˜†2018β†’ Residue 210
NM_016233.2(PADI3):c.1955G>A (p.Arg652Lys)Pathogenic
Central centrifugal cicatricial alopecia
β˜…β˜†β˜†β˜†2018β†’ Residue 652
NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)Pathogenic
Uncombable hair syndrome 1
β˜†β˜†β˜†β˜†2019β†’ Residue 605
View on ClinVar β†—
Related Genes
FLGProtein interaction84%TCHHProtein interaction84%FLG2Protein interaction83%S100A3Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Brain
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PADI3FLGTCHHFLG2S100A3
PROTEIN STRUCTURE
Preparing viewer…
PDB7D5V Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.56–0.90]
RankingsWhere PADI3 stands among ~20K protein-coding genes
  • #10,371of 20,598
    Most Researched39
  • #3,110of 5,498
    Most Pathogenic Variants8
  • #8,125of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedPADI3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Citrullination of pyruvate kinase M2 by PADI1 and PADI3 regulates glycolysis and cancer cell proliferation.
PMID: 33741961
Nat Commun Β· 2021
1.00
2
PADI3, hair disorders and genomic investigation.
PMID: 31797372
Br J Dermatol Β· 2019
0.90
3
NF-Y and Sp1/Sp3 are involved in the transcriptional regulation of the peptidylarginine deiminase type III gene (PADI3) in human keratinocytes.
PMID: 16671893
Biochem J Β· 2006
0.80
4
Deimination in epidermal barrier and hair formation.
PMID: 37778378
Philos Trans R Soc Lond B Biol Sci Β· 2023
0.70
5
Citrullinated and MMP-degraded vimentin is associated with chronic pulmonary diseases and genetic variants in PADI3/PADI4 and CFH in postmenopausal women.
PMID: 38155185
Sci Rep Β· 2023
0.60