POMP gene

proteasome maturation protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, Aug 2010]

From UniProt:

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.

From NCBI Gene:

  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

From UniProt:

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. [MIM:601952]

Cytogenetic Location: 13q12.3, which is the long (q) arm of chromosome 13 at position 12.3

Molecular Location: base pairs 28,659,004 to 28,678,957 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q12.3, which is the long (q) arm of chromosome 13 at position 12.3
  • C13orf12
  • HSPC014
  • PNAS-110
  • UMP1