PSMF1

Chr 20p13

proteasome inhibitor subunit 1

Aliases:: PI31
MANE:: ENST00000335877.11

OMIM: 617858 ↗NCBI: 9491 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PSMF1 · Q92530

v62025-08-01

Predicted Aligned Error matrix for PSMF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.8/ 100

Confident

271 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)5%
Low(50–70)25%
Very low(< 50)21%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

complex neurodevelopmental disorder with motor features
0.40
methicillin-resistant staphylococcus aureus infectious disease
0.30
placental abruption
0.29
response to antibiotic
0.25
response to xenobiotic stimulus
0.25
poisoning
0.25
neurodegenerative disease
0.19
jaw disease
0.18
Parkinson disease
0.08
Parkinsonism
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proteasome inhibitor PI31 subunit

Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28