POMP

Proteasome maturation protein is a protein that in humans is encoded by the POMP gene.^[5][6] It is a short-lived maturation factor required for 20S proteasome subunit biogenesis.

POMP
Identifiers
Aliases	POMP, C13orf12, PNAS-110, UMP1, HSPC014, proteasome maturation protein, PRAAS2
External IDs	OMIM: 613386; MGI: 1913787; HomoloGene: 41077; GeneCards: POMP; OMA:POMP - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q12.3 Start 28,659,104 bp[1] End 28,678,959 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G3 Start 147,797,271 bp[2] End 147,813,266 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle biceps brachii mucosa of sigmoid colon corpus epididymis Skeletal muscle tissue of biceps brachii oral cavity male germ cell sperm muscle of trunk tendon of biceps brachii Top expressed in neural tube morula yolk sac ventricular zone blastocyst otic placode epiblast embryo ganglionic eminence embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm organelle membrane cytosol endoplasmic reticulum membrane nucleus intracellular membrane-bounded organelle nuclear speck Biological process proteasome assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51371 66537 Ensembl ENSG00000132963 ENSMUSG00000029649 UniProt Q9Y244 Q9CQT5 RefSeq (mRNA) NM_015932 NM_025624 RefSeq (protein) NP_057016 NP_079900 Location (UCSC) Chr 13: 28.66 – 28.68 Mb Chr 5: 147.8 – 147.81 Mb PubMed search [3] [4]
Wikidata
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A single nucleotide deletion in this gene causes an autosomal recessive skin disorder, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome.^[7]