Version 5.4
Homo sapiens Protein: POMP
Summary
InnateDB Protein IDBP-20207.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POMP
Protein Name proteasome maturation protein
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000370222
InnateDB Gene IDBG-20205 (POMP)
Protein Structure
UniProt Annotation
Function Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. {ECO:0000269PubMed:15944226, ECO:0000269PubMed:16251969, ECO:0000269PubMed:17948026}.
Subcellular Localization Cytoplasm, cytosol. Nucleus. Microsome membrane.
Disease Associations Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]: A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. {ECO:0000269PubMed:20226437}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer. {ECO:0000269PubMed:20226437}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 59 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0043248 proteasome assembly
Cellular Component
GO:0000502 proteasome complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0031090 organelle membrane
Protein Structure and Domains
PDB ID
InterPro IPR008012 Proteasome maturation factor UMP1
PFAM PF05348
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y244
PhosphoSite PhosphoSite-Q9Y244
TrEMBL
UniProt Splice Variant
Entrez Gene 51371
UniGene Hs.604292
RefSeq NP_057016
HUGO HGNC:20330
OMIM 613386
CCDS CCDS9331
HPRD 12613
IMGT
EMBL AF077200 AF125097 AF262975 AF275807 AK312118 AL359454 BC003390 BC014334 CH471075 EF535527 GU045555 GU045556
GenPept AAD26995 AAD39914 AAG23819 AAH03390 AAH14334 AAK58521 ABQ08566 ADE92939 ADE92940 BAG35054 CAI17157 EAX08435

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca