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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PJA1
praja ring finger ubiquitin ligase 1
Chromosome X · Xq13.1
NCBI Gene: 64219Ensembl: ENSG00000181191.13HGNC: HGNC:16648UniProt: Q8NG27
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase activityprotein ubiquitinationcytoplasmschizophreniachronic obstructive pulmonary diseasemajor depressive disorderbipolar disorder
✦AI Summary

PJA1 (praja ring finger ubiquitin ligase 1) is an X-linked E3 ubiquitin ligase that plays critical roles in protein degradation and cellular regulation. The protein exhibits E2-dependent E3 ubiquitin ligase activity, binding to ubiquitin-conjugating enzyme UbcH5B and facilitating protein ubiquitination 1. PJA1 is abundantly expressed in brain regions including cerebellum, cerebral cortex, and frontal lobe, making it a candidate gene for X-linked mental retardation 1. Mechanistically, PJA1 promotes proteasomal degradation of multiple target proteins through K48-linked ubiquitination, including PGAM5 at lysine 88, which affects mitochondrial function and pyroptosis regulation 2. The enzyme also degrades glyoxalase I (GLO1) in ferroptosis-sensitive cancer cells, leading to methylglyoxal accumulation and enhanced cell death sensitivity 3. Disease relevance includes involvement in chemotherapy resistance, where PJA1 suppresses GSDME-mediated pyroptosis in nasopharyngeal carcinoma 2, and neurodevelopmental disorders, with recurrent variants associated with trigonocephaly and epilepsy 4. Additionally, PJA1 mediates astrocytic GPR30 effects on learning and memory by regulating Serpina3n levels 5. Clinically, PJA1 expression correlates with treatment outcomes in various cancers and neurodevelopmental conditions.

Sources cited
1
The protein exhibits E2-dependent E3 ubiquitin ligase activity, binding to ubiquitin-conjugating enzyme UbcH5B and facilitating protein ubiquitination .
PMID: 12036302
2
Mechanistically, PJA1 promotes proteasomal degradation of multiple target proteins through K48-linked ubiquitination, including PGAM5 at lysine 88, which affects mitochondrial function and pyroptosis regulation .
PMID: 38906860
3
The enzyme also degrades glyoxalase I (GLO1) in ferroptosis-sensitive cancer cells, leading to methylglyoxal accumulation and enhanced cell death sensitivity .
PMID: 40908564
4
Disease relevance includes involvement in chemotherapy resistance, where PJA1 suppresses GSDME-mediated pyroptosis in nasopharyngeal carcinoma , and neurodevelopmental disorders, with recurrent variants associated with trigonocephaly and epilepsy .
PMID: 32530565
5
Additionally, PJA1 mediates astrocytic GPR30 effects on learning and memory by regulating Serpina3n levels .
PMID: 37712419
Disease Associationsⓘ20
schizophreniaOpen Targets
0.51Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.35Weak
bipolar disorderOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.35Weak
attention deficit hyperactivity disorderOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.34Weak
craniofrontonasal syndromeOpen Targets
0.23Weak
Intellectual disabilityOpen Targets
0.23Weak
Craniofrontonasal dysplasiaOpen Targets
0.23Weak
facial morphologyOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.22Weak
trigonocephalyOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
neoplasmOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
microphthalmia, isolated, with colobomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMC6Protein interaction100%MAGED1Protein interaction100%SMC5Protein interaction87%NSMCE4AProtein interaction87%NSMCE3Protein interaction87%UBE2D2Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
54%
Heart
40%
Lung
26%
Liver
16%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
PJA1SMC6MAGED1SMC5NSMCE4ANSMCE3UBE2D2
PROTEIN STRUCTURE
Preparing viewer…
PDB2L0B · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.56Intermediate
Observed/Expected LoF0.35 [0.18–0.74]
RankingsWhere PJA1 stands among ~20K protein-coding genes
  • #7,800of 20,598
    Most Researched59
  • #5,860of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedPJA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
X-chromosome-wide association study for Alzheimer's disease.
PMID: 39633006
Mol Psychiatry · 2025
1.00
2
PJA1-mediated suppression of pyroptosis as a driver of docetaxel resistance in nasopharyngeal carcinoma.
PMID: 38906860
Nat Commun · 2024
0.90
3
PJA1 mediates the effects of astrocytic GPR30 on learning and memory in female mice.
PMID: 37712419
J Clin Invest · 2023
0.80
4
FMO2
PMID: 40316306
J Immunother Cancer · 2025
0.70
5
PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X chromosome gene abundantly expressed in brain.
PMID: 12036302
Genomics · 2002
0.60