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

Gene ID: 5707, updated on 6-May-2021

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
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
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Genomic context

See PSMD1 in Genome Data Viewer
Location:
2q37.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (231056867..231172827)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231921581..232037541)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 3 Neighboring gene uncharacterized LOC112268432 Neighboring gene chromosome 2 open reading frame 72 Neighboring gene 5-hydroxytryptamine receptor 2B Neighboring gene RNA, U1 small nuclear 93, pseudogene Neighboring gene armadillo repeat containing 9 Neighboring gene ribosomal protein S28 pseudogene 4 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

Homology

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 
Process Evidence Code Pubs
involved_in Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in MAPK cascade TAS
Traceable Author Statement
more info
 
involved_in NIK/NF-kappaB signaling TAS
Traceable Author Statement
more info
 
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
involved_in T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
involved_in anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
involved_in interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
involved_in negative regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
involved_in negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
involved_in neutrophil degranulation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
involved_in post-translational protein modification TAS
Traceable Author Statement
more info
 
involved_in pre-replicative complex assembly TAS
Traceable Author Statement
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
involved_in protein deubiquitination TAS
Traceable Author Statement
more info
 
involved_in protein polyubiquitination TAS
Traceable Author Statement
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cellular amino acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
involved_in regulation of mRNA stability TAS
Traceable Author Statement
more info
 
involved_in regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
involved_in regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
involved_in stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
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
PubMed 
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 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
PubMed 
is_active_in proteasome storage granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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/Swiss-Prot
    Q99460
    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
    Q99460
    Related
    ENSP00000309474.6, ENST00000308696.11
    Conserved Domains (2) summary
    sd00044
    Location:601624
    HEAT; HEAT repeat [structural motif]
    cl28113
    Location:2934
    PC_rep; Proteasome/cyclosome repeat

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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017004517.2XP_016860006.1  26S proteasome non-ATPase regulatory subunit 1 isoform X1

    Related
    ENSP00000503826.1, ENST00000678460.1
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