RBCC Red Blood Cell Collection

POMP_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: POMP , C13orf12, UMP1 , HSPC014, HSPC036, PNAS-110
Protein names and data: POMP_HUMAN , Proteasome maturation protein , Proteassemblin; Protein UMP1 homolog; hUMP1; Voltage-gated K channel beta subunit 4.1 Lenght: 141 a.a.
Mass: 15789 Da
fasta formatted sequence
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.
Disease: ( OMIM: 601952 613386 ) Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytosol. Nucleus. Microsome membrane.
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.

Database cross-references

UniProt: Q9Y244
Ensembl: ENST00000380842
MIM: 601952
MIM: 613386
neXtProt: NX_Q9Y244
Antibodypedia: Q9Y244 (may not find the protein thus also not any antibody)
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