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Aliases for POMP Gene

Aliases for POMP Gene

  • Proteasome Maturation Protein 2 3 5
  • Proteassemblin 2 3 4
  • Voltage-Gated K Channel Beta Subunit 4.1 3 4
  • Protein UMP1 Homolog 3 4
  • C13orf12 3 4
  • HUMP1 3 4
  • UMP1 3 4
  • Voltage-Gated Potassium Channel Beta Subunit 4.1 3
  • Chromosome 13 Open Reading Frame 12 2
  • 2510048O06Rik 3
  • PNAS-110 3
  • HSPC014 3

External Ids for POMP Gene

Previous HGNC Symbols for POMP Gene

  • C13orf12

Previous GeneCards Identifiers for POMP Gene

  • GC13P028132
  • GC13P029233
  • GC13P010055

Summaries for POMP Gene

Entrez Gene Summary for POMP Gene

  • 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]

GeneCards Summary for POMP Gene

POMP (Proteasome Maturation Protein) is a Protein Coding gene. Diseases associated with POMP include Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma and Keratosis. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6.

UniProtKB/Swiss-Prot for POMP Gene

  • 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.

Gene Wiki entry for POMP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMP Gene

Genomics for POMP Gene

Regulatory Elements for POMP Gene

Enhancers for POMP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POMP on UCSC Golden Path with GeneCards custom track

Promoters for POMP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POMP on UCSC Golden Path with GeneCards custom track

Genomic Location for POMP Gene

28,659,004 bp from pter
28,678,957 bp from pter
19,954 bases
Plus strand

Genomic View for POMP Gene

Genes around POMP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMP Gene

Proteins for POMP Gene

  • Protein details for POMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Proteasome maturation protein
    Protein Accession:
    Secondary Accessions:
    • A5HKJ2
    • D6MXU3
    • Q9HB69

    Protein attributes for POMP Gene

    141 amino acids
    Molecular mass:
    15789 Da
    Quaternary structure:
    • Constituent of preproteasomes, but not of mature 20S proteasomes. Within the preproteasome, may directly interact with PSMB1/beta6, PSMB4/beta7, PSMB5/beta5, PSMB6/beta1 and PSMB9/beta1i. Interaction with PSMB8/beta5i has been observed in PubMed:10973495, but not in PubMed:10926487. Forms tetramers.
    • Sequence=AAG23819.1; Type=Frameshift; Positions=140; Evidence={ECO:0000305};

neXtProt entry for POMP Gene

Proteomics data for POMP Gene at MOPED

Post-translational modifications for POMP Gene

  • Ubiquitination at Lys 39, Lys 53, and Lys 61
  • Modification sites at PhosphoSitePlus

Other Protein References for POMP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POMP Gene

Domains & Families for POMP Gene

Protein Domains for POMP Gene


Suggested Antigen Peptide Sequences for POMP Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the POMP/UMP1 family.
  • Belongs to the POMP/UMP1 family.
genes like me logo Genes that share domains with POMP: view

No data available for Gene Families for POMP Gene

Function for POMP Gene

Molecular function for POMP Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma.
genes like me logo Genes that share phenotypes with POMP: view

Human Phenotype Ontology for POMP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POMP Gene

miRTarBase miRNAs that target POMP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for POMP Gene

Localization for POMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMP Gene

Cytoplasm, cytosol. Nucleus. Microsome membrane.

Subcellular locations from

Jensen Localization Image for POMP Gene COMPARTMENTS Subcellular localization image for POMP gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 3
extracellular 1

Gene Ontology (GO) - Cellular Components for POMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with POMP: view

Pathways & Interactions for POMP Gene

SuperPathways for POMP Gene

genes like me logo Genes that share pathways with POMP: view

Pathways by source for POMP Gene

1 KEGG pathway for POMP Gene

Gene Ontology (GO) - Biological Process for POMP Gene


No data available for SIGNOR curated interactions for POMP Gene

Drugs & Compounds for POMP Gene

No Compound Related Data Available

Transcripts for POMP Gene

mRNA/cDNA for POMP Gene

Unigene Clusters for POMP Gene

Proteasome maturation protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POMP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1: - -
SP2: - - -
SP3: - -
SP4: -
SP5: - - -
SP6: -

Relevant External Links for POMP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for POMP Gene

mRNA expression in normal human tissues for POMP Gene

Protein differential expression in normal tissues from HIPED for POMP Gene

This gene is overexpressed in Monocytes (29.1), Fetal ovary (13.9), Pancreas (8.7), and Ovary (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for POMP Gene

SOURCE GeneReport for Unigene cluster for POMP Gene Hs.268742

mRNA Expression by UniProt/SwissProt for POMP Gene

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.
genes like me logo Genes that share expression patterns with POMP: view

Protein tissue co-expression partners for POMP Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMP Gene

Orthologs for POMP Gene

This gene was present in the common ancestor of animals.

Orthologs for POMP Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia POMP 35
  • 92.43 (n)
  • 97.16 (a)
  • 97 (a)
(Canis familiaris)
Mammalia POMP 35
  • 93.14 (n)
  • 95.04 (a)
-- 36
  • 89 (a)
-- 36
  • 91 (a)
-- 36
  • 89 (a)
(Mus musculus)
Mammalia Pomp 35
  • 86.05 (n)
  • 95.04 (a)
Pomp 16
Pomp 36
  • 94 (a)
(Pan troglodytes)
Mammalia POMP 35
  • 99.29 (n)
  • 99.29 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC100911238 35
  • 87.94 (n)
  • 96.45 (a)
(Monodelphis domestica)
Mammalia POMP 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia POMP 36
  • 70 (a)
(Gallus gallus)
Aves POMP 35
  • 77.22 (n)
  • 79.14 (a)
  • 78 (a)
(Anolis carolinensis)
Reptilia POMP 36
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pomp 35
  • 71.39 (n)
  • 75.89 (a)
Str.7291 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33669 35
(Danio rerio)
Actinopterygii pomp 35
  • 69.5 (n)
  • 76.6 (a)
wufa13f09 35
pomp 36
  • 75 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8406 35
fruit fly
(Drosophila melanogaster)
Insecta Pomp 36
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
Species with no ortholog for POMP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMP Gene

Gene Tree for POMP (if available)
Gene Tree for POMP (if available)

Paralogs for POMP Gene Pseudogenes for POMP Gene

genes like me logo Genes that share paralogs with POMP: view

No data available for Paralogs for POMP Gene

Variants for POMP Gene

Sequence variations from dbSNP and Humsavar for POMP Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs9656 -- 28,678,110(-) GAACA(A/C/G)CACAC utr-variant-3-prime
rs885005 -- 28,671,715(+) TAGTA(A/G)TTGAA intron-variant
rs885219 -- 28,672,069(-) CGGCA(C/T)ATACC intron-variant
rs913797 -- 28,672,318(-) TGAAG(A/G)GACAA intron-variant
rs1018662 -- 28,676,807(-) GATTA(C/G)AGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POMP Gene

Variant ID Type Subtype PubMed ID
nsv832571 CNV Loss 17160897

Variation tolerance for POMP Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POMP Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMP Gene

Disorders for POMP Gene

MalaCards: The human disease database

(2) MalaCards diseases for POMP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
  • klick syndrome
  • actinic keratosis
- elite association - COSMIC cancer census association via MalaCards
Search POMP in MalaCards View complete list of genes associated with diseases


  • 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:0000269 PubMed:20226437}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POMP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with POMP: view

No data available for Genatlas for POMP Gene

Publications for POMP Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 67
  2. MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP. (PMID: 26145175) Zhang X. … Dobbelstein M. (Mol. Cell 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Autoubiquitination of the 26S proteasome on Rpn13 regulates breakdown of ubiquitin conjugates. (PMID: 24811749) Besche H.C. … Goldberg A.L. (EMBO J. 2014) 3

Products for POMP Gene

Sources for POMP Gene