Aliases for POMP Gene
Aliases for POMP Gene
External Ids for POMP Gene
- HGNC: 20330
- Entrez Gene: 51371
- Ensembl: ENSG00000132963
- OMIM: 613386
- UniProtKB: Q9Y244
Previous HGNC Symbols for POMP Gene
- C13orf12
Previous GeneCards Identifiers for POMP Gene
- GC13P028132
- GC13P029233
- GC13P010055
Summaries 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.
Additional gene information for POMP Gene
- Monarch Initiative
- Search for POMP at DataMed
- Search for POMP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMP Gene
Genomics for POMP Gene
GeneHancer (GH) Regulatory Elements for POMP Gene
Promoters and enhancers for POMP Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the POMP gene promoter:
-
- HOXA5
- p300
- GATA-1
- GATA-2
- GATA-3
- AREB6
- AP-1
- c-Fos
- c-Jun
- FosB
Regulatory Element Products
Genomic Locations for POMP Gene
Genomic Locations for POMP Gene
- chr13:28,659,004-28,678,957
- (GRCh38/hg38)
- Size:
- 19,954 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:
-
- 13q12.3 by Entrez Gene
- 13q12.3 by HGNC
- 13q12.3 by Ensembl
POMP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for POMP Gene
Post-translational modifications for POMP Gene
Other Protein References for POMP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for POMP
-
Abcam antibodies for POMP
- Invitrogen Antibodies for POMP
- GeneTex POMP Antibody for POMP
-
Santa Cruz Biotechnology (SCBT) Antibodies for POMP
Protein Products
-
OriGene Purified Proteins for POMP
- Search Origene for MassSpec and Protein Over-expression Lysates for POMP
- Origene Custom Protein Services for POMP
- Search GeneTex for Proteins for POMP
-
Abcam proteins for POMP
Assay Products
- antibodies-online: Search results for 3 available POMP Elisa Kits ranked by validation data
- Compare Top POMP Elisa Kits
-
Quality Products:
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
Suggested Antigen Peptide Sequences for POMP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y244- Family:
-
- Belongs to the POMP/UMP1 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14733938 |
Phenotypes for POMP Gene
- GenomeRNAi human phenotypes for POMP:
-
- Increased G1 DNA content
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased homologous recombination repair frequency
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability
- no effect
- Decreased cell number
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Downregulation of NFkappaB pathway
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Increased Sindbis virus (SINV) infection
- Increased viability
- FOXO1 nuclear localization
- HIV Rev nuclear localization
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for POMP
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- Overview of 139 available POMP gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for POMP Gene
- miRTarBase miRNAs that target POMP
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 139 available POMP gene related products
- Overview of 139 available POMP gene related products
Clone Products
- Sino Biological Human cDNA Clone for POMP
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POMP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMP
- Applied Biological Materials Clones for POMP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 3 |
| extracellular | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for POMP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 |
.78
|
|
Pathways by source for POMP Gene
1 KEGG pathway for POMP Gene
Interacting Proteins for POMP Gene
Selected Interacting proteins:
Q9Y244-POMP_HUMAN
ENSP00000370222
for POMP Gene via
MINT
STRING
IID
UniProtKB
GPS-Prot Interaction Network for POMP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0043248 | proteasome assembly | IEA,IMP | 17948026 |
No data available for SIGNOR curated interactions for POMP Gene
Transcripts for POMP Gene
mRNA/cDNA for POMP Gene
- (1) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (469) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000380842 1330 bps (uc001usf.4)
- ENST00000460403 1428 bps (uc058wcl.1)
Unigene Clusters for POMP Gene
- Proteasome maturation protein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for POMP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POMP
- genomics-online: gRNA clones - Search results for 139 available POMP gene related products
- Overview of 139 available POMP gene related products
- Applied Biological Materials CRISPR for POMP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POMP
- GenScript: Design CRISPR guide RNA sequences for POMP
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POMP
- Browse OriGene Inhibitory RNA Products For POMP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMP
- genomics-online: shRNA clones - Search results for 139 available POMP gene related products
- Overview of 139 available POMP gene related products
Clone Products
- Sino Biological Human cDNA Clone for POMP
- VectorBuilder custom plasmid, inducible vectors for POMP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POMP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POMP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMP
- Applied Biological Materials Clones for POMP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - | ||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||
| SP6: | - |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of POMP Gene:
POMPSOURCE GeneReport for Unigene cluster for POMP Gene:
Hs.268742mRNA 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(2.2)
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
Primer Products
-
OriGene qPCR primer pairs and template standards for POMP
-
OriGene qPCR primer pairs for POMP
- genomics-online: primer clones - Search results for 139 available POMP gene related products
- Overview of 139 available POMP gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POMP 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POMP 33 |
|
||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | POMP 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | POMP 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | LOC100911238 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pomp 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | POMP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POMP 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POMP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pomp 33 |
|
||
| Str.7291 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33669 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pomp 34 33 |
|
OneToOne | |
| wufa13f09 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8406 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Pomp 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for POMP: view image
Paralogs for POMP Gene
Pseudogenes.org Pseudogenes for POMP Gene
No data available for Paralogs for POMP Gene
Variants for POMP Gene
| SNP ID | Clin | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112368783 | pathogenic, Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | 28,659,089(+) | CC/C | 5_prime_UTR_variant | |
| rs772222545 | uncertain-significance, not specified | 28,668,536(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1000043810 | -- | 28,676,907(+) | G/A | intron_variant | |
| rs1000417646 | -- | 28,658,975(+) | A/C | upstream_transcript_variant | |
| rs1000640320 | -- | 28,678,479(+) | A/G | 3_prime_UTR_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMP Gene
Disorders for POMP Gene
(2) MalaCards diseases for POMP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
|
|
| keratosis |
|
|
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.
Additional Disease Information for POMP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for POMP Gene
Publications for POMP Gene
- 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 58
- 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 44 58
- 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 58
- 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 58
- Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation. (PMID: 16624403) Hoefer MM … Illges H (International journal of biological macromolecules 2006) 3 4 58
Products for POMP Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POMP
- antibodies-online: Search results for 15 available POMP Antibodies ranked by validation data
- Compare Top POMP Antibodies
- antibodies-online: Search results for 3 available POMP Elisa Kits ranked by validation data
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- GeneTex POMP Antibody for POMP
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Sources for POMP Gene
- (1) GeneCards
- (2) HGNC
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