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    POMP proteasome maturation protein [ Homo sapiens (human) ]

    Gene ID: 51371, updated on 23-Nov-2023

    Summary

    Official Symbol
    POMPprovided by HGNC
    Official Full Name
    proteasome maturation proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20330
    See related
    Ensembl:ENSG00000132963 MIM:613386; AllianceGenome:HGNC:20330
    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; PRAAS2; 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]
    Expression
    Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POMP in Genome Data Viewer
    Location:
    13q12.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (28659130..28678959)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (27882418..27902247)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29233267..29253096)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:29148510-29149709 Neighboring gene uncharacterized LOC105370135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29157670-29158170 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5217 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:29267612-29268144 Neighboring gene uncharacterized LOC124903143 Neighboring gene solute carrier family 46 member 3 Neighboring gene RNA, U6 small nuclear 53, pseudogene Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
    MedGen: C1866029 OMIM: 601952 GeneReviews: Not available
    Compare labs
    Proteasome-associated autoinflammatory syndrome 2
    MedGen: C4747989 OMIM: 618048 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteasome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteasome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    proteasome maturation protein
    Names
    2510048O06Rik
    hUMP1
    proteassemblin
    protein UMP1 homolog
    voltage-gated K channel beta subunit 4.1
    voltage-gated potassium channel beta subunit 4.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5127..24956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015932.6NP_057016.1  proteasome maturation protein

      See identical proteins and their annotated locations for NP_057016.1

      Status: REVIEWED

      Source sequence(s)
      AL359454, BC014334, CD369437, GU045555
      Consensus CDS
      CCDS9331.1
      UniProtKB/Swiss-Prot
      A5HKJ2, D6MXU3, Q9HB69, Q9Y244
      UniProtKB/TrEMBL
      A0A8V8TLM3
      Related
      ENSP00000370222.4, ENST00000380842.5
      Conserved Domains (1) summary
      pfam05348
      Location:25138
      UMP1; Proteasome maturation factor UMP1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      28659130..28678959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      27882418..27902247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)