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    PSMD1 proteasome 26S subunit, non-ATPase 1 [ Homo sapiens (human) ]

    Gene ID: 5707, updated on 3-Dec-2024

    Summary

    Official Symbol
    PSMD1provided by HGNC
    Official Full Name
    proteasome 26S subunit, non-ATPase 1provided by HGNC
    Primary source
    HGNC:HGNC:9554
    See related
    Ensembl:ENSG00000173692 MIM:617842; AllianceGenome:HGNC:9554
    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
    S1; P112; Rpn2
    Summary
    The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in brain (RPKM 24.7), appendix (RPKM 17.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PSMD1 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231056867..231172827)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231541373..231657315)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231921581..232037541)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:231860347-231860880 Neighboring gene spermatogenesis associated 3 Neighboring gene uncharacterized LOC112268432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12423 Neighboring gene chromosome 2 open reading frame 72 Neighboring gene 5-hydroxytryptamine receptor 2B Neighboring gene RNA, U1 small nuclear 93, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17276 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:232046423-232047622 Neighboring gene Sharpr-MPRA regulatory region 12701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232056223-232057103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17279 Neighboring gene armadillo repeat containing 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232111208-232111926 Neighboring gene ribosomal protein S28 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17280 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232181499-232182000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232182001-232182500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232196977-232197934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232201084-232201584 Neighboring gene Sharpr-MPRA regulatory region 9410 Neighboring gene microRNA 4777

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with PSMD1 PubMed
    Tat tat HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome PubMed
    tat Amino acids Lys51, Arg52, and Asp67 of HIV-1 Tat represent the proteasome binding site of Tat, and Tat amino acids 37-72 are necessary for proteasomal interaction and suppression of 11 S regulator-mediated antigen presentation PubMed
    tat HIV-1 Tat inhibits the peptidase activity of the 20 S proteasome and interferes with the formation of the 20 S proteasome-11 S regulator complex PubMed
    tat HIV-1 Tat binds to the alpha2, alpha4, alpha6, alpha7, beta1, beta2, beta3, beta5, beta6, beta7, LMP7/beta5i, and MECL1/beta2i subunits of the proteasome 20 S core structure and can inhibit cellular proteasome function PubMed
    Vif vif HIV-1 Vif binds to the cellular cytidine deaminase APOBEC3G and targets it for degradation through an interaction with the proteasome, thereby inhibiting APOBEC3G mediated restriction of HIV-1 replication PubMed
    integrase gag-pol Proteasomal degradation of HIV-1 integrase in mammalian cells occurs by the N-end rule pathway PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133040, MGC133041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of proteasome accessory complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of proteasome regulatory particle TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of proteasome regulatory particle, base subcomplex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in proteasome storage granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    26S proteasome non-ATPase regulatory subunit 1
    Names
    26S proteasome regulatory subunit RPN2
    26S proteasome regulatory subunit S1
    26S proteasome subunit p112
    proteasome (prosome, macropain) 26S subunit, non-ATPase, 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.

    mRNA and Protein(s)

    1. NM_001191037.2NP_001177966.1  26S proteasome non-ATPase regulatory subunit 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AA169719, AC009407, BC064398, DA385817
      Consensus CDS
      CCDS54436.1
      UniProtKB/TrEMBL
      A0A7I2V523
      Related
      ENSP00000362738.4, ENST00000373635.9
      Conserved Domains (3) summary
      COG5116
      Location:2903
      RPN2; 26S proteasome regulatory complex component [Posttranslational modification, protein turnover, chaperones]
      pfam01851
      Location:651685
      PC_rep; Proteasome/cyclosome repeat
      sd00044
      Location:601624
      HEAT; HEAT repeat [structural motif]
    2. NM_002807.4NP_002798.2  26S proteasome non-ATPase regulatory subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_002798.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA169719, AC009407, BC094720, DA385817
      Consensus CDS
      CCDS2482.1
      UniProtKB/Swiss-Prot
      B8ZZH9, Q24JU0, Q53TI2, Q6GMU5, Q6P2P4, Q6PJM7, Q6PKG9, Q86VU1, Q8IV79, Q99460
      UniProtKB/TrEMBL
      B2R6D0
      Related
      ENSP00000309474.6, ENST00000308696.11
      Conserved Domains (2) summary
      COG5116
      Location:2934
      RPN2; 26S proteasome regulatory complex component [Posttranslational modification, protein turnover, chaperones]
      sd00044
      Location:601624
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_034059.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' CDS, resulting in a reading frame-shift and a premature stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate. It will most likely not make a functional protein.
      Source sequence(s)
      AA169719, AC009407, AK307415, AK312528, DA385817
      Related
      ENST00000431051.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      231056867..231172827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004517.3XP_016860006.1  26S proteasome non-ATPase regulatory subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A7I2V491
      Related
      ENSP00000503826.1, ENST00000678460.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      231541373..231657315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343069.1XP_054199044.1  26S proteasome non-ATPase regulatory subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A7I2V491