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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 (Proteasome Maturation Protein) is a Protein Coding gene. Diseases associated with POMP include Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma and Proteasome-Associated Autoinflammatory Syndrome 2. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14733938 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0043248 | proteasome assembly | IEA,IMP | 17948026 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | - | ||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POMP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POMP 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | POMP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POMP 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100911238 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pomp 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POMP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POMP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POMP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pomp 30 |
|
||
Str.7291 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33669 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pomp 30 31 |
|
OneToOne | |
wufa13f09 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8406 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pomp 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112368783 | Pathogenic: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | 28,659,088(+) | TC/T | ||
rs1555257069 | Likely Pathogenic: not provided | 28,672,399(+) | G/GA | FRAMESHIFT_VARIANT | |
rs1555257073 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,406(+) | CTA/C | FRAMESHIFT_VARIANT | |
rs1555257075 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,411(+) | G/GGATTT | FRAMESHIFT_VARIANT | |
rs1555257076 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,416(+) | TGAGGAT/ACC | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
|
|
proteasome-associated autoinflammatory syndrome 2 |
|
|
keratosis |
|
|
ichthyosis |
|
|
nodular episcleritis |
|
|