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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 Regulation of activated PAK-2p34 by proteasome mediated degradation.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F028573 1.6 FANTOM5 Ensembl ENCODE 13.5 -84.2 -84230 2.2 PKNOX1 ATF1 ARNT GATA2 FOS ZMIZ1 JUNB NCOA1 TSHZ1 TBX21 POMP FLT1 PAN3 LOC105370135 ENSG00000279393
GH13F028530 1.6 FANTOM5 Ensembl ENCODE 10.4 -126.8 -126830 3.1 HDGF ATF1 PKNOX1 ARNT ZNF133 YBX1 FEZF1 GLI4 ZNF2 ZNF121 PAN3 FLT1 PAN3-AS1 POMP ENSG00000279393 LOC105370135
GH13F028391 1.3 FANTOM5 Ensembl ENCODE 10.9 -265.6 -265563 3.7 SMARCE1 CTCF JUN FEZF1 ZIC2 NR2F2 ARID1B CBX8 ZNF316 IKZF1 FLT1 POMP PAN3 GC13M028385
GH13F028523 1.3 FANTOM5 Ensembl ENCODE 10.6 -135.0 -134962 0.5 TBP TBL1XR1 RBBP5 BMI1 ZBTB40 CBX5 ETV6 CREM CHD2 MTA2 FLT1 POMP PAN3 ENSG00000279393 LOC105370135
GH13F028636 1.1 Ensembl ENCODE 12.2 -21.5 -21548 1.9 TBL1XR1 RAD21 GLIS2 EGR1 ZNF366 CBX5 ZNF416 ZNF143 ETV6 CREM POMP FLT1 ENSG00000273964
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001508156 -4 2801 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 YY1

Genomic Location for POMP Gene

Chromosome:
13
Start:
28,659,004 bp from pter
End:
28,678,957 bp from pter
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; Positions=140; Evidence={ECO:0000305};

neXtProt entry for POMP Gene

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:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POMP (POMP)

No data available for DME Specific Peptides for POMP Gene

Domains & Families for POMP Gene

Protein Domains for POMP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POMP Gene

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

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.

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

miRNA for POMP Gene

miRTarBase miRNAs that target POMP

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 3
extracellular 1

Gene Ontology (GO) - Cellular Components for POMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with POMP: view

Pathways & Interactions 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 IMP 17948026
genes like me logo Genes that share ontologies with POMP: view

No data available for SIGNOR curated interactions for POMP Gene

Transcripts for POMP Gene

mRNA/cDNA for POMP Gene

Unigene Clusters for POMP Gene

Proteasome maturation protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for POMP Gene



Protein tissue co-expression partners for POMP Gene

NURSA nuclear receptor signaling pathways regulating expression of POMP Gene:

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.
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 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia POMP 34
  • 93.14 (n)
-- 35
  • 91 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia POMP 34 35
  • 92.43 (n)
oppossum
(Monodelphis domestica)
Mammalia POMP 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911238 34
  • 87.94 (n)
mouse
(Mus musculus)
Mammalia Pomp 34 16 35
  • 86.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POMP 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves POMP 34 35
  • 77.22 (n)
lizard
(Anolis carolinensis)
Reptilia POMP 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomp 34
  • 71.39 (n)
Str.7291 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33669 34
zebrafish
(Danio rerio)
Actinopterygii pomp 34 35
  • 69.5 (n)
wufa13f09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8406 34
fruit fly
(Drosophila melanogaster)
Insecta Pomp 35
  • 43 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for POMP was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for POMP (if available)
TreeFam:
Gene Tree for POMP (if available)

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 from dbSNP and Humsavar for POMP Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs112368783 Pathogenic 28,659,090(+) ACTTC(-/C)GGCGG utr-variant-5-prime
rs10161824 -- 28,662,636(+) ATGGG(A/G)TGCAG intron-variant
rs1018662 -- 28,676,807(-) GATTA(C/G)AGTAC intron-variant
rs10546023 -- 28,660,085(+) TAACA(-/GA)ATCCA intron-variant
rs10718165 -- 28,677,209(+) TTGCC(-/T)TTTTT 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)
POMP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMP

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
keratosis
  • actinic keratosis
- 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.

Relevant External Links for POMP

Genetic Association Database (GAD)
POMP
Human Genome Epidemiology (HuGE) Navigator
POMP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMP
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 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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. (Am. J. Hum. Genet. 2010) 3 4 64
  4. The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum. (PMID: 17948026) Fricke B. … Kruger E. (EMBO Rep. 2007) 3 4 64
  5. Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation. (PMID: 16624403) Hoefer M.M. … Illges H. (Int. J. Biol. Macromol. 2006) 3 4 64

Products for POMP Gene

Sources for POMP Gene

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