AlphaFold predicted structure
PJA1 · Q8NG27
Mean pLDDT
50.1/ 100
Low
643 residues
Confidence breakdown
- Very high(≥ 90)7%
- Confident(70–90)9%
- Low(50–70)16%
- Very low(< 50)69%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PJA1
Chr Xq13.1praja ring finger ubiquitin ligase 1
- Aliases:
- FLJ11830, RNF70, PRAJA1
- MANE:
- ENST00000374571.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Rare syndromic craniosynostosis or isolated multisuture synostosis
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
schizophrenia
0.51chronic obstructive pulmonary disease
0.35bipolar disorder
0.35major depressive disorder
0.35attention deficit-hyperactivity disorder
0.34autism spectrum disorder
0.34facial morphology
0.24craniofrontonasal syndrome
0.23Craniofrontonasal dysplasia
0.23Intellectual disability
0.23
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
E3 ubiquitin-protein ligase Praja-1
Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting
Diseases associated with PJA1
Curated MONDO disease pages that list PJA1 among their top associated genes.