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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. 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 CIViC summary , 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
GH13G028573 1.7 FANTOM5 Ensembl ENCODE 13.5 -84.2 -84230 2.2 PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 ZMIZ1 FOS JUNB POMP FLT1 PAN3 LOC105370135 ENSG00000279393
GH13G028530 1.6 FANTOM5 Ensembl ENCODE 10.4 -126.7 -126738 3.0 HDGF PKNOX1 ATF1 ARNT ZNF133 YBX1 FEZF1 GLI4 ZNF2 TCF12 PAN3-AS1 PAN3 FLT1 POMP ENSG00000279393 LOC105370135
GH13G028391 1.3 FANTOM5 ENCODE dbSUPER 10.9 -265.6 -265563 3.7 HDAC1 CTCF JUN FEZF1 ZIC2 TCF12 ZNF316 GATA2 NFE2 FOS FLT1 POMP PAN3 GC13M028385
GH13G028324 1.2 Ensembl ENCODE dbSUPER 11.3 -334.5 -334452 0.5 CTCF ZNF654 NR2F1 TRIM22 REST ZNF2 RAD21 NR2F2 SMARCA4 ZNF341 POMP FLT1 GC13P028308 GC13M028385
GH13G028636 1.1 Ensembl ENCODE 12.2 -21.6 -21633 1.7 ATF1 FOXA2 TBL1XR1 NFRKB RAD21 GLIS2 EGR1 ZNF366 CBX5 ZNF416 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
ENSR00000060463 96 2201 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2

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 Lys39, posLast=5353, 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

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

  • Addgene plasmids for POMP
  • Applied Biological Materials Clones 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 3
extracellular 1

Gene Ontology (GO) - Cellular Components for POMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005737 cytoplasm IEA,IBA --
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

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
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

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for POMP
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
POMP

Expression for POMP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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.

Evidence on tissue expression from TISSUES for POMP Gene

  • Blood(4.4)
  • Bone marrow(4.3)
  • Heart(4.3)
  • Nervous system(3.4)
  • Lung(2.5)
  • Liver(2.3)
  • Skin(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
Organs:
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

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
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
rs1000043810 -- 28,676,907(+) AACCC(A/G)TCTCC intron-variant
rs1000417646 -- 28,658,975(+) CCCTT(A/C)CTGCG upstream-variant-2KB
rs1000640320 -- 28,678,479(+) TCAGA(A/G)TAAAC utr-variant-3-prime
rs1000821114 -- 28,672,627(+) GGTGC(A/G)GTGGC 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

(1) MalaCards diseases for POMP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, 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.

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. 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
  3. 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
  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

  • Addgene plasmids for POMP

Sources for POMP Gene

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