POMP

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)
End	28,678,959 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	147,813,266 bp
RNA expression pattern
	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
	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
	51371
	66537
	ENSG00000132963
	ENSMUSG00000029649
	Q9Y244
	Q9CQT5
	NM_015932
	NM_025624
	NP_057016
	NP_079900
	Wikidata
View/Edit Human	View/Edit Mouse

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

A single nucleotide deletion in this gene causes an autosomal recessive skin disorder, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome.