POMP - proteasome maturation protein Gene

Also Known as UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51371

About POMP

Cytogenetic location: 13q12.3 Genomic coordinates (GRCh38): 13:28,659,130-28,678,959 (from NCBI)

This gene has 12 transcripts (splice variants), 285 orthologues and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues.

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]

POMP Products (1)

mRNA	Protein	Name
NM_015932.6	NP_057016.1	proteasome maturation protein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14733938	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proteasome assembly	IMP IMP: Inferred from mutant phenotype	17948026	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POMP Protein Structure

UMP1

0
100
141 a.a.

Protein Preferred Names	Protein Names
proteasome maturation protein	2510048O06Rik

POMP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POMP	Q9Y244	PSMB6	Homo sapiens	P28072	Y2H	17948026
Intra	POMP	Q9Y244	PSMB2	Homo sapiens	P49721	Y2H	17948026
Intra	POMP	Q9Y244	PSMB1	Homo sapiens	P20618	Y2H	14733938
Intra	POMP	Q9Y244	PSMB1	Homo sapiens	P20618	Y2H	17948026
Intra	POMP	Q9Y244	PSMB7	Homo sapiens	Q99436	Y2H	14733938
Intra	POMP	Q9Y244	PSMB3	Homo sapiens	P49720	MAPPIT	25416956
Intra	POMP	Q9Y244	PSMB4	Homo sapiens	P28070	Y2H	17948026

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Klick Syndrome Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome KLICK Klick Genodermatosis
Proteasome-Associated Autoinflammatory Syndrome 2	PRAAS2
Proteasome-Associated Autoinflammatory Syndrome	Aldd Syndrome Autoinflammation-Lipodystrophy-Dermatosis Syndrome Praas Proteasome Disability Syndrome
Atrophoderma Vermiculata	Atrophoderma Vermiculatum Folliculitis Ulerythematosa Reticulata Atrophodermia Vermiculata Honeycomb Atrophy Atrophodermia Reticulata Symmetrica Faciei AVA Atrophodermia Reticulata Folliculitis Ulerythematosa Folliculitis Ulerythematosa Reticulate Burnett Schwartz Berberian Syndrome
Keratosis	Actinic Keratosis Hyperkeratosis
Nodular Episcleritis
Familial Cold Autoinflammatory Syndrome 4	FCAS4 Nlrc4-Related Familial Cold Autoinflammatory Syndrome Nlrc4-Related Familial Cold Urticaria Autoinflammatory, Cold, Familial, Syndrome, Type 4
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10869	POMP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16401	NT5C3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19936	Pomp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26438	Pomp Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	POMP	VGNC	VGNC:33157
Macaca mulatta	POMP	VGNC	VGNC:106285
Rattus norvegicus	POMP	RGD	RGD:1305831
Mus musculus	POMP	MGD	MGI:1913787
Felis catus	POMP	VGNC	VGNC:102290
Others	POMP	NCBI