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... See more...

Aliases for POMP Gene

Aliases for POMP Gene

  • Proteasome Maturation Protein 2 3 4 5
  • Proteassemblin 2 3 4
  • UMP1 2 3 4
  • Voltage-Gated K Channel Beta Subunit 4.1 3 4
  • Protein UMP1 Homolog 3 4
  • C13orf12 3 4
  • HSPC014 2 3
  • HUMP1 3 4
  • Voltage-Gated Potassium Channel Beta Subunit 4.1 3
  • Chromosome 13 Open Reading Frame 12 2
  • 2510048O06Rik 3
  • PNAS-110 3
  • PRAAS2 3
  • POMP 5

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 Proteasome-Associated Autoinflammatory Syndrome 2. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMP Gene

Genomics for POMP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POMP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J028655 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 600.7 -1.1 -1086 5.7 SP1 CREB1 GATAD2A HNRNPL ZNF629 TFE3 IKZF1 ZNF692 POLR2A BACH1 NONHSAG013108.2 POMP lnc-SLC46A3-7 PAN3 RF00017-1380 FLT1
GH13J028573 Enhancer 1.4 FANTOM5 Ensembl ENCODE 13.5 -84.6 -84603 3.8 RNF2 CREB1 ZNF629 LEF1 IKZF1 ETV6 JUND DDX20 PRDM1 MTA2 LOC105370135 lnc-POMP-6 POMP PAN3 FLT1 POLR1D
GH13J028530 Promoter/Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas 10.4 -126.8 -126838 3 RNF2 ARHGAP35 PRDM10 ZNF512 LEF1 IKZF1 KDM1A TARDBP JUND LARP7 PAN3 PAN3-AS1 FLT1 POMP POLR1D EEF1A1P3 piR-57461-061 piR-31937-052
GH13J028391 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -265.7 -265663 3.7 IKZF1 ZIC2 HDAC1 ZNF341 ZBTB44 ZXDB RUNX3 NFE2 ZNF316 POLR2A FLT1 POMP PAN3 lnc-FLT3-2 MN309628
GH13J028327 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -329.8 -329772 3.7 CEBPB FOS FOSL1 NR2F2 BHLHE40 NR2F1 MAFK EZH2 FEZF1 JUN FLT1 POMP PAN3 RF00017-1378 piR-35674-124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POMP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POMP

Top Transcription factor binding sites by QIAGEN in the POMP gene promoter:
  • AP-1
  • AREB6
  • c-Fos
  • c-Jun
  • FosB
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA5
  • p300

Genomic Locations for POMP Gene

Genomic Locations for POMP Gene
chr13:28,659,104-28,678,959
(GRCh38/hg38)
Size:
19,856 bases
Orientation:
Plus strand
chr13:29,233,141-29,253,094
(GRCh37/hg19)
Size:
19,954 bases
Orientation:
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:
    Q9Y244-POMP_HUMAN
    Recommended name:
    Proteasome maturation protein
    Protein Accession:
    Q9Y244
    Secondary Accessions:
    • A5HKJ2
    • D6MXU3
    • Q9HB69

    Protein attributes for POMP Gene

    Size:
    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.
    SequenceCaution:
    • Sequence=AAG23819.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for POMP Gene

Post-translational modifications for POMP Gene

  • Ubiquitination at Lys39, Lys53, and Lys61
  • 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

Gene Families for POMP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for POMP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POMP Gene

GenScript: Design optimal peptide antigens:
  • Proteasome maturation protein (D6MXU3_HUMAN)
  • Voltage-gated K channel beta subunit 4.1 (POMP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y244

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for POMP Gene

Gene Ontology (GO) - Molecular Function for POMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14733938
genes like me logo Genes that share ontologies with POMP: view
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

CRISPR Products

miRNA for POMP Gene

miRTarBase miRNAs that target POMP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMP

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POMP gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POMP Gene

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 --
genes like me logo Genes that share ontologies with POMP: view

Pathways & Interactions for POMP Gene

PathCards logo

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0043248 proteasome assembly IEA,IMP 17948026
genes like me logo Genes that share ontologies with POMP: view

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

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMP

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
POMP

Expression for POMP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for POMP Gene



Protein tissue co-expression partners for POMP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POMP

SOURCE GeneReport for Unigene cluster for POMP Gene:

Hs.268742

mRNA Expression by UniProt/SwissProt for POMP Gene:

Q9Y244-POMP_HUMAN
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.

Evidence on tissue expression from TISSUES for POMP Gene

  • Blood(4.5)
  • Heart(4.4)
  • Bone marrow(4.4)
  • Nervous system(3.8)
  • Liver(3)
  • Lung(2.9)
  • Skin(2.7)
  • Spleen(2.4)
  • Kidney(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POMP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with POMP: view

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
Chimpanzee
(Pan troglodytes)
Mammalia POMP 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POMP 30
  • 93.14 (n)
-- 31
  • 91 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia POMP 30 31
  • 92.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POMP 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100911238 30
  • 87.94 (n)
Mouse
(Mus musculus)
Mammalia Pomp 30 17 31
  • 86.05 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POMP 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POMP 30 31
  • 77.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POMP 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pomp 30
  • 71.39 (n)
Str.7291 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33669 30
Zebrafish
(Danio rerio)
Actinopterygii pomp 30 31
  • 69.5 (n)
OneToOne
wufa13f09 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8406 30
Fruit Fly
(Drosophila melanogaster)
Insecta Pomp 31
  • 43 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for POMP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for POMP (if available)
TreeFam:
Gene Tree for POMP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POMP: view image

Paralogs for POMP Gene

Pseudogenes.org 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POMP Gene

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

Additional dbSNP identifiers (rs#s) for POMP Gene

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)

Additional Variant Information for POMP Gene

Human Gene Mutation Database (HGMD)
POMP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMP

SNP Genotyping and Copy Number Assay Products

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

Disorders for POMP Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search POMP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POMP_HUMAN
  • 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.
  • Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) [MIM:618048]: An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. {ECO:0000269 PubMed:26524591, ECO:0000269 PubMed:29805043}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POMP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 QH … Chen Z (Genome research 2000) 2 3 4
  2. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. (PMID: 29805043) Poli MC … Orange JS (American journal of human genetics 2018) 3 4
  3. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. (PMID: 20226437) Dahlqvist J … Dahl N (American journal of human genetics 2010) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum. (PMID: 17948026) Fricke B … Krüger E (EMBO reports 2007) 3 4

Products for POMP Gene

Sources for POMP Gene