POMP
Function
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.
Involvement in disease
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
KLICK
A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer.
None
The disease is caused by variants affecting the gene represented in this entry.
Proteasome-associated autoinflammatory syndrome 2
PRAAS2
An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the POMP/UMP1 family.
Tissue Specificity
Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
Cellular localization
- Cytoplasm
- Cytosol
- Nucleus
- Microsome membrane
Alternative names
C13orf12, UMP1, HSPC014, HSPC036, PNAS-110, POMP, Proteasome maturation protein, Proteassemblin, Protein UMP1 homolog, Voltage-gated K channel beta subunit 4.1, hUMP1