AlphaFold predicted structure
POMP · Q9Y244
Mean pLDDT
81.0/ 100
Confident
141 residues
Confidence breakdown
- Very high(≥ 90)42%
- Confident(70–90)38%
- Low(50–70)8%
- Very low(< 50)12%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
POMP
Chr 13q12.3proteasome maturation protein
- Aliases:
- HSPC014, UMP1
- MANE:
- ENST00000380842.5
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIchthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
0.68proteasome-associated autoinflammatory syndrome 2
0.66pathological myopia
0.26ovarian dysfunction
0.23inherited retinal dystrophy
0.22vascular disorder
0.20angina pectoris
0.20pyogenic granuloma
0.19hereditary disease
0.19cancer
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Proteasome maturation protein
Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum