POMP, Official Symbol POMPprovided by HGNC Official Full Name proteasome maturation proteinprovided by HGNC Primary source HGNC:HGNC:20330 See related Ensembl:ENSG00000132963 MIM:613386; AllianceGenome:HGNC:20330 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110 Summary 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] Expression Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues See more Orthologs mouse all