POMP

POMP is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.

Full Name

Proteasome Maturation Protein

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.

Biological Process

Proteasome assemblyManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm, cytosol
Nucleus
Microsome membrane

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.
Proteasome-associated autoinflammatory syndrome 2 (PRAAS2):
Proteasome-associated autoinflammatory syndrome 2 (PRAAS2)