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    POMP proteasome maturation protein [ Homo sapiens (human) ]

    Gene ID: 51371, updated on 5-May-2013
    Official Symbol
    POMPprovided by HGNC
    Official Full Name
    proteasome maturation proteinprovided by HGNC
    Primary source
    HGNC:20330
    Locus tag
    HSPC014
    See related
    Ensembl:ENSG00000132963; HPRD:12613; MIM:613386; Vega:OTTHUMG00000016652
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UMP1; HSPC014; C13orf12; PNAS-110
    Summary
    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]
    Location :
    13q12.3
    Sequence :
    Chromosome: 13; NC_000013.10 (29233141..29253094)
    See POMP in Epigenomics, MapViewer

    Chromosome 13 - NC_000013.10Genomic Context describing neighboring genes Neighboring gene fms-related tyrosine kinase 1 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 7 Neighboring gene RNA, U6 small nuclear 53, pseudogene Neighboring gene solute carrier family 46, member 3 Neighboring gene cytochrome P450, family 51, pseudogene 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    3. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.
    5. siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis. Dahlqvist J, et al. PLoS One, 2012. PMID 22235297.

    See all (31) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. KLICK is caused by reduced levels of POMP, leading to proteasome insufficiency in differentiating keratinocytes
      Title: siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
      Title: A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
    4. Data show that POMP facilitates the main steps in 20S core complex formation at the ER to coordinate the assembly process and to provide cells with freshly formed proteasomes at their site of function.
      Title: The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum.
    5. POMP/proteassemblin/hUmp1 may be tetramerised and is localized to the cytoplasm and the nucleus
      Title: Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y244 Potassium channel, voltage gated, shaker related subfamily, member 10 KCNA10    HPRD  PubMed  
    Q9Y244 P20618 PSMB1    HPRD  PubMed  
    Q9Y244 P28074 PSMB5    HPRD  PubMed  
    Q9Y244 P28072 PSMB6    HPRD  PubMed  
    Q9Y244 Q99436 PSMB7    HPRD  PubMed  
    BioGRID:119504 BioGRID:107271 CANX    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:115690 CD2BP2    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:116028 CPLX1    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119504 BioGRID:116223 DSTN    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:108223 ECT2    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:109142 GRB2    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:109698 IGBP1    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:109946 KCNA10    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:119504 BioGRID:119504 POMP    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:111655 PSMA1    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:111656 PSMA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119504 BioGRID:111657 PSMA3    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111658 PSMA4    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111659 PSMA5    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:111660 PSMA6    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:119504 BioGRID:111661 PSMA7    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111662 PSMB1    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111672 PSMB10    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:111663 PSMB2    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111664 PSMB3    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111665 PSMB4    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111666 PSMB5    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111667 PSMB6    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:111668 PSMB7    BioGRID  PubMed Co-fractionation; Two-hybrid 
    BioGRID:119504 BioGRID:111669 PSMB8    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:119504 BioGRID:111671 PSMB9    BioGRID  PubMed Two-hybrid 
    BioGRID:119504 BioGRID:114179 PSMG1    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:121301 PSMG2    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:119504 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119504 BioGRID:113167 UBE2A    BioGRID  PubMed Co-fractionation 
    BioGRID:119504 BioGRID:113183 UBE2V1    BioGRID  PubMed Co-fractionation 
    • Proteasome, organism-specific biosystem (from KEGG)
      Proteasome, organism-specific biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...
    • Proteasome, conserved biosystem (from KEGG)
      Proteasome, conserved biosystemThe proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processin...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    proteasome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteasome complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    proteasome maturation protein
    Names
    proteasome maturation protein
    hUMP1
    2510048O06Rik
    proteassemblin
    protein UMP1 homolog
    voltage-gated K channel beta subunit 4.1
    voltage-gated potassium channel beta subunit 4.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027550.1 RefSeqGene

      Range
      5001..24954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015932.5 → NP_057016.1  proteasome maturation protein

      Status: REVIEWED

      Source sequence(s)
      BC014334, CD369437, GU045555
      Consensus CDS
      CCDS9331.1
      UniProtKB/Swiss-Prot
      Q9Y244
      Related
      ENSP00000370222, OTTHUMP00000018185, ENST00000380842, OTTHUMT00000044327
      Conserved Domains (1) summary
      pfam05348
      Location:13 – 140
      Blast Score: 366
      UMP1; Proteasome maturation factor UMP1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000013.10 Reference GRCh37.p10 Primary Assembly

      Range
      29233141..29253094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000145.1 Alternate HuRef

      Range
      10054960..10074915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018924.1 Alternate CHM1_1.0

      Range
      10188373..10208326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01035724.1 (10728..30683) None
    genomic AL359454.7 (33876..53829) None
    genomic AMYH01004994.1 (420468..440421) None
    genomic CH471075.1 EAX08434.1
      EAX08435.1
    mRNA AF077200.1 AAD26995.1
    mRNA AF125097.1 AAD39914.1
    mRNA AF262975.1 AAK58521.1
    mRNA AF275807.1 AAG23819.1
    mRNA AK312118.1 BAG35054.1
    mRNA BC003390.1 AAH03390.1
    mRNA BC014334.1 AAH14334.1
    mRNA CD369437.1 None
    mRNA EF535527.1 ABQ08566.1
    mRNA GU045555.1 ADE92939.1
    mRNA GU045556.1 ADE92940.1
    other-genetic DQ894129.2 ABM85055.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y244.1 GenPept UniProtKB/Swiss-Prot:Q9Y244

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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