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POMP Gene(Protein Coding)

Proteasome Maturation Protein

GCID:
GC13P028659
GIFtS:
52
Genes Participants
UDN Logo

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

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for POMP Gene

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
GH13I028655 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 550.8 -1.0 -986 5.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 POMP ENSG00000273964
GH13I028573 Enhancer 1.5 FANTOM5 Ensembl ENCODE 13.5 -84.2 -84229 2.2 PKNOX1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 FOS ATF7 RUNX3 LOC105370135 POMP FLT1 PAN3 ENSG00000279393
GH13I028530 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.4 -126.7 -126738 3 HDGF PKNOX1 ARNT SIN3A YBX1 FEZF1 ZNF2 ZNF143 ZNF548 REST PAN3 PAN3-AS1 FLT1 POMP POLR1D EEF1A1P3 ENSG00000279393 LOC105370135
GH13I028391 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.9 -265.6 -265563 3.7 HDAC1 JUN FEZF1 ZIC2 TCF12 ZNF316 NFE2 RUNX3 SMARCE1 ZNF189 FLT1 POMP PAN3 GC13M028385
GH13I028324 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -334.5 -334452 0.5 CTCF RB1 ZNF2 IRF4 RAD21 CC2D1A ARID2 SMC3 ZNF143 ZNF444 POMP FLT1 GC13P028308 GC13M028385
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POMP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POMP gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for POMP Gene

Proteins for POMP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for POMP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

miRNA for POMP Gene

miRTarBase miRNAs that target POMP

Clone Products

  • Addgene plasmids 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

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 --
GO:0005737 cytoplasm 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

SuperPathways for POMP Gene

PathCards logo More details on SuperPathways for POMP
SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
Proteasome
.78
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for POMP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

Unigene Clusters for POMP Gene

Proteasome maturation protein:
Representative Sequences:

Clone Products

  • Addgene plasmids 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for POMP Gene
mRNA expression by BioGPS for POMP GenemRNA expression by GTEx 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(2.3)

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 33 34
  • 99.29 (n)
dog
(Canis familiaris)
 Mammalia POMP 33
  • 93.14 (n)
-- 34
  • 91 (a)
 OneToMany
-- 34
  • 89 (a)
 OneToMany
-- 34
  • 89 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia POMP 33 34
  • 92.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia POMP 34
  • 89 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC100911238 33
  • 87.94 (n)
mouse
(Mus musculus)
 Mammalia Pomp 33 16 34
  • 86.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia POMP 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves POMP 33 34
  • 77.22 (n)
lizard
(Anolis carolinensis)
 Reptilia POMP 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pomp 33
  • 71.39 (n)
Str.7291 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.33669 33
zebrafish
(Danio rerio)
 Actinopterygii pomp 33 34
  • 69.5 (n)
wufa13f09 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8406 33
fruit fly
(Drosophila melanogaster)
 Insecta Pomp 34
  • 43 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar 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

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

(2) MalaCards diseases for POMP Gene - From: HGMD, 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.

Additional Disease Information for POMP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 QH … Chen Z (Genome research 2000) 2 3 4 58
  2. 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
  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 58
  4. 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
  5. 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

  • Addgene plasmids for POMP

Sources for POMP Gene

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