HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PWWP3A
PWWP domain containing 3A, DNA repair factor
Chromosome 19 · 19p13.3
NCBI Gene: 84939Ensembl: ENSG00000160953.17HGNC: HGNC:29641UniProt: J3KNX4
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleosome bindingDNA repairchromatin organizationdermatitisatopic eczemaurethral syndromeBurkitts lymphoma
✦AI Summary

PWWP3A is a DNA damage response factor that functions through two distinct biological pathways. In DNA repair, PWWP3A contains a nucleosome-binding PWWP domain and is recruited to DNA break sites by TP53BP1, where it promotes chr19 relaxation and decondensation to facilitate repair machinery access 12. This chr19 remodeling activity is essential for efficient DNA repair and cell survival following genotoxic stress, as depletion of PWWP3A or its PWWP domain impairs damage-induced chr19 decondensation and increases hypersensitivity to DNA damage 2. Beyond DNA repair, PWWP3A functions as a negative regulator of innate antiviral immunity 3. Upon RNA virus infection, PWWP3A translocates from the nucleus to mitochondria, where it competitively inhibits TRAF6 binding to the VISA/MAVS signaling complex, thereby blocking TBK1 recruitment and downstream IRF3 activation and type I interferon production 3. This inhibitory effect is counterregulated by the E3 ligase PJA2-mediated degradation of PWWP3A post-infection 3. PWWP3A deficiency enhances antiviral responses and confers increased resistance to RNA virus infection in mice 3. Thus, PWWP3A represents a multifunctional protein integrating DNA damage responses with immune regulation.

Sources cited
1
PWWP3A (EXPAND1) contains a nucleosome-binding PWWP domain, tethers to chromatin, maintains basal chromatin accessibility, interacts with 53BP1 at DNA damage sites, and triggers chromatin decondensation
PMID: 21327088
2
PWWP3A (EXPAND1/MUM1) is a PWWP domain-containing protein that concentrates at DNA damage sites via 53BP1 interaction; depletion or PWWP domain inactivation causes chromatin compaction and impairs damage-induced chromatin decondensation with hypersensitivity to genotoxic stress
PMID: 20347427
3
PWWP3A negatively regulates antiviral immunity by translocating to mitochondria during RNA virus infection, competing with TRAF6 for VISA binding to inhibit TBK1 recruitment and IRF3 activation; PJA2 ubiquitinates PWWP3A for degradation; PWWP3A deficiency enhances interferon responses and increases viral resistance
PMID: 40312484
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
dermatitisOpen Targets
0.27Weak
atopic eczemaOpen Targets
0.24Weak
urethral syndromeOpen Targets
0.19Weak
Burkitts lymphomaOpen Targets
0.06Suggestive
osteomyelitisOpen Targets
0.06Suggestive
viral diseaseOpen Targets
0.05Suggestive
chronic lymphocytic leukemiaOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
mature T-cell and NK-cell non-Hodgkin lymphomaOpen Targets
0.03Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
nephrogenic syndrome of inappropriate antidiuresisOpen Targets
0.03Suggestive
anaplastic large cell lymphomaOpen Targets
0.03Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.03Suggestive
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2Open Targets
0.03Suggestive
diffuse large B-cell lymphomaOpen Targets
0.03Suggestive
schizophrenia 15Open Targets
0.03Suggestive
immunodeficiency 69Open Targets
0.03Suggestive
Central Nervous System LymphomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFB3Protein interaction100%NDUFAB1Protein interaction100%NDUFS1Protein interaction100%NDUFV2Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
97%
Brain
55%
Lung
39%
Heart
28%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
PWWP3ANDUFB5NDUFA13NDUFB3NDUFAB1NDUFS1NDUFV2
PROTEIN STRUCTURE
Preparing viewer…
PDB3PMI · 2.82 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.56–0.91]
RankingsWhere PWWP3A stands among ~20K protein-coding genes
  • #13,284of 20,598
    Most Researched24
  • #8,250of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedPWWP3A
Sources retrieved5 papers
Response time—
📄 Sources
5
1
PWWP3A disrupts the assembly of VISA/MAVS signalosome to inhibit innate immune response against RNA viruses.
PMID: 40312484
Nat Commun · 2025
1.00
2
[Correlation between the expressions of CARMA1 gene and MUM1 and its significance in diffuse large B cell lymphoma].
PMID: 21569705
Zhonghua Xue Ye Xue Za Zhi · 2011
0.80
3
The 53BP1-EXPAND1 connection in chromatin structure regulation.
PMID: 21327088
Nucleus · 2010
0.60
4
Regulation of chromatin architecture by the PWWP domain-containing DNA damage-responsive factor EXPAND1/MUM1.
PMID: 20347427
Mol Cell · 2010
0.40
5
CD5-positive follicular lymphoma characterized by CD25, MUM1, low frequency of t(14;18) and poor prognosis.
PMID: 24698419
Pathol Int · 2014
0.20