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

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; AllianceGenome:HGNC:9567
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: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (121888790..121918297)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (121885089..121914595)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (122326696..122356203)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comprehensive analysis of PSMD family members and validation of PSMD9 as a potential therapeutic target in human glioblastoma.
Title: Comprehensive analysis of PSMD family members and validation of PSMD9 as a potential therapeutic target in human glioblastoma.
The interaction network of the proteasome assembly chaperone PSMD9 regulates proteostasis.
Title: The interaction network of the proteasome assembly chaperone PSMD9 regulates proteostasis.
PSMD9 is linked to T2D age of onset, years of isolated and combined insulin therapy, irregular menses, and hot flashes.
Title: PSMD9 is linked to T2D age of onset, years of isolated and combined insulin therapy, irregular menses, and hot flashes.
KIF14 affects cell cycle arrest and cell viability in cervical cancer by regulating the p27(Kip1) pathway.
Title: KIF14 affects cell cycle arrest and cell viability in cervical cancer by regulating the p27(Kip1) pathway.
UBE2S interacting with TRIM28 in the nucleus accelerates cell cycle by ubiquitination of p27 to promote hepatocellular carcinoma development.
Title: UBE2S interacting with TRIM28 in the nucleus accelerates cell cycle by ubiquitination of p27 to promote hepatocellular carcinoma development.
PSMD9 ribosomal protein network maintains nucleolar architecture and WT p53 levels.
Title: PSMD9 ribosomal protein network maintains nucleolar architecture and WT p53 levels.
Proteasome modulator 9 (PSMD9) gene rs14259 polymorphism in Alzheimer's disease.
Title: Proteasome modulator 9 (PSMD9) gene rs14259 polymorphism in Alzheimer's disease.
Novel Determinant of PSMD9 PDZ Binding
Title: A Novel Determinant of PSMD9 PDZ Binding Guides the Evolution of the First Generation of Super Binding Peptides.
Molecular experiments showed that miR2213p was able to bind with the 3'untranslated region (UTR) of p27 and decreased the expression of p27 in nonsmall cell lung cancer cells.
Title: miR‑221‑3p promotes the cell growth of non‑small cell lung cancer by targeting p27.
Polymorphisms of p21 and p27 jointly contribute to an earlier age at diagnosis of pancreatic cancer.
Title: Polymorphisms of p21 and p27 jointly contribute to an earlier age at diagnosis of pancreatic cancer.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

PSMD9_1060.2 (e-PCR)
- UniSTS:280932

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

RH64869 (e-PCR)
- UniSTS:56287

D5S1597E (e-PCR)
- UniSTS:151019

WI-19611 (e-PCR)
- UniSTS:42480

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bHLH transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteasome regulatory particle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome regulatory particle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of proteasome regulatory particle	NAS Non-traceable Author Statement more info	PubMed
part_of proteasome regulatory particle, base subcomplex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001261400.3 → NP_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:45 → 100

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. ...
NM_002813.7 → NP_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

B2RD35, G3V1Q6, O00233, Q9BQ42

UniProtKB/TrEMBL

J3KN29

Related

ENSP00000440485.1, ENST00000541212.6

Conserved Domains (1) summary

cd00989
Location:129 → 205

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

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