POMP - proteasome maturation protein Gene

Homo sapiens

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

Gene ID: 51371 | Gene type: protein coding

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

POMP Protein Structure

UMP1

0
100
141 a.a.

Protein Preferred Names

Protein Names

proteasome maturation protein

2510048O06Rik

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10869	POMP Human Pre-designed siRNA Set A		/	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