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PSMD9 proteasome 26S subunit, non-ATPase 9 [ Homo sapiens (human) ]

Gene ID: 5715, updated on 7-Jun-2020

Summary

Official Symbol
PSMD9provided by HGNC
Official Full Name
proteasome 26S subunit, non-ATPase 9provided by HGNC
Primary source
HGNC:HGNC:9567
See related
Ensembl:ENSG00000110801 MIM:603146
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
p27; Rpn4
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 a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 16.1), kidney (RPKM 11.1) and 25 other tissues See more
Orthologs

Genomic context

See PSMD9 in Genome Data Viewer
Location:
12q24.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121888790..121918297)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122326637..122355771)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SET domain containing 1B, histone lysine methyltransferase Neighboring gene uncharacterized LOC105370035 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene Sharpr-MPRA regulatory region 2985/8376 Neighboring gene cilia and flagella associated protein 251 Neighboring gene BAF chromatin remodeling complex subunit BCL7A

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

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat 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
tat HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome 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

  • MGC8644

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bHLH transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
NIK/NF-kappaB signaling TAS
Traceable Author Statement
more info
 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome regulatory particle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome regulatory particle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of cellular amino acid metabolic process TAS
Traceable Author Statement
more info
 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of mRNA stability TAS
Traceable Author Statement
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
proteasome regulatory particle NAS
Non-traceable Author Statement
more info
PubMed 
colocalizes_with proteasome regulatory particle, base subcomplex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
26S proteasome non-ATPase regulatory subunit 9
Names
26S proteasome regulatory subunit p27
homolog of rat Bridge 1
proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
proteasome 26S non-ATPase regulatory subunit 9

NCBI Reference Sequences (RefSeq)

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_001261400.3NP_001248329.1  26S proteasome non-ATPase regulatory subunit 9 isoform 2

    See identical proteins and their annotated locations for NP_001248329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC069503, BC002383, BU726372, CB111716, KF459562
    Consensus CDS
    CCDS58284.1
    UniProtKB/Swiss-Prot
    O00233
    Related
    ENSP00000443772.1, ENST00000542602.1
    Conserved Domains (1) summary
    cl00117
    Location:45100
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
  2. NM_002813.7NP_002804.2  26S proteasome non-ATPase regulatory subunit 9 isoform 1

    See identical proteins and their annotated locations for NP_002804.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC069503, BC002383, BU726372, KF459562
    Consensus CDS
    CCDS9225.1
    UniProtKB/Swiss-Prot
    O00233
    Related
    ENSP00000440485.1, ENST00000541212.6
    Conserved Domains (1) summary
    cd00989
    Location:129205
    PDZ_metalloprotease; PDZ domain of bacterial and plant zinc metalloprotases, presumably membrane-associated or integral membrane proteases, which may be involved in signalling and regulatory mechanisms. May be responsible for substrate recognition and/or binding, as most PDZ ...

RNA

  1. NR_048555.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.
    Source sequence(s)
    AC069503, BC002383, BM850893, BU726372, KF459562

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    121888790..121918297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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