Recombinant Human Proteasome maturation protein (POMP)

Uniprot Id

Q9Y244

Target Species

Human

Target Name

POMP

Target Full Name

Proteasome maturation protein

Target 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.

Target Involvement

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK)

Target Subcellular Location

Cytoplasm, cytosol. Nucleus. Microsome membrane.

Target Protein Families

POMP/UMP1 family

Target 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.

Target Synonyms

2510048O06Rik; C13orf12; Chromosome 13 open reading frame 12 ; HSPC 014; HSPC036 protein ; hUMP 1; hUMP1; PNAS 110; PNAS110; Pomp; POMP_HUMAN; Proteasome maturation protein; Proteassemblin; Protein UMP1 homolog; UMP 1; UMP1; UMP1; yeast; homolog of; Voltage gated K channel beta subunit 4.1 ; Voltage-gated K channel beta subunit 4.1; voltage-gated potassium channel beta subunit 4.1

Target Background

The protein encoded by this gene 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.