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

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: mouse all
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Genomic context

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_000002.12 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 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?

Mitochondrial outer membrane protein MTUS1/ATIP1 exerts antitumor effects through ROS-induced mitochondrial pyroptosis in head and neck squamous cell carcinoma.
Title: Mitochondrial outer membrane protein MTUS1/ATIP1 exerts antitumor effects through ROS-induced mitochondrial pyroptosis in head and neck squamous cell carcinoma.
Depletion of proteasome subunit PSMD1 induces cancer cell death via protein ubiquitination and DNA damage, irrespective of p53 status.
Title: Depletion of proteasome subunit PSMD1 induces cancer cell death via protein ubiquitination and DNA damage, irrespective of p53 status.
PSMD1 as a prognostic marker and potential target in oropharyngeal cancer.
Title: PSMD1 as a prognostic marker and potential target in oropharyngeal cancer.
Proteasome 26S subunit, non-ATPase 1 (PSMD1) facilitated the progression of lung adenocarcinoma by the de-ubiquitination and stability of PTEN-induced kinase 1 (PINK1).
Title: Proteasome 26S subunit, non-ATPase 1 (PSMD1) facilitated the progression of lung adenocarcinoma by the de-ubiquitination and stability of PTEN-induced kinase 1 (PINK1).
26S Proteasome Non-ATPase Regulatory Subunits 1 (PSMD1) and 3 (PSMD3) as Putative Targets for Cancer Prognosis and Therapy.
Title: 26S Proteasome Non-ATPase Regulatory Subunits 1 (PSMD1) and 3 (PSMD3) as Putative Targets for Cancer Prognosis and Therapy.
Proteasome 26S subunit, non-ATPases 1 (PSMD1) and 3 (PSMD3), play an oncogenic role in chronic myeloid leukemia by stabilizing nuclear factor-kappa B.
Title: Proteasome 26S subunit, non-ATPases 1 (PSMD1) and 3 (PSMD3), play an oncogenic role in chronic myeloid leukemia by stabilizing nuclear factor-kappa B.
Identification of Hub Genes in Gastric Cancer with High Heterogeneity Based on Weighted Gene Co-Expression Network.
Title: Identification of Hub Genes in Gastric Cancer with High Heterogeneity Based on Weighted Gene Co-Expression Network.
The authors demonstrate that PSMD1 and PSMD2 promote the proliferation of HepG2 cells via facilitating cellular lipid droplet accumulation.
Title: PSMD1 and PSMD2 regulate HepG2 cell proliferation and apoptosis via modulating cellular lipid droplet metabolism.
we firstly demonstrate that BCRC-3 is down-regulated in BC tissues and cell lines for the first time. BCRC-3 is capable of functioning as ceRNA for miR-182-5p to regulate the expression of p27.
Title: Circular RNA BCRC-3 suppresses bladder cancer proliferation through miR-182-5p/p27 axis.
RPN13 binds ubiquitin with an affinity similar to that of other proteasome-associated ubiquitin receptors and that RPN2, ubiquitin, and the deubiquitylase UCH37 bind to RPN13 with independent energetics.
Title: Structure and energetics of pairwise interactions between proteasome subunits RPN2, RPN13, and ubiquitin clarify a substrate recruitment mechanism.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

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
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31713 (e-PCR)
- UniSTS:2873

SHGC-12915 (e-PCR)
- UniSTS:25422

D2S1517E (e-PCR)
- UniSTS:150611

HTR2B_345 (e-PCR)
- UniSTS:277340

RH36032 (e-PCR)
- UniSTS:26992

WI-11730 (e-PCR)
- UniSTS:39556

PSMD1 (e-PCR)
- UniSTS:512658

SHGC-83635 (e-PCR)
- UniSTS:95904

RH68938 (e-PCR)
- UniSTS:43692

D2S1672E (e-PCR)
- UniSTS:150707

RH48937 (e-PCR)
- UniSTS:3020

D2S1525E (e-PCR)
- UniSTS:39887

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 proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of protein catabolic process	IEA Inferred from Electronic Annotation 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 more info	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

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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)

NM_001191037.2 → NP_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:2 → 903

RPN2; 26S proteasome regulatory complex component [Posttranslational modification, protein turnover, chaperones]

pfam01851
Location:651 → 685

PC_rep; Proteasome/cyclosome repeat

sd00044
Location:601 → 624

HEAT; HEAT repeat [structural motif]
NM_002807.4 → NP_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:2 → 934

RPN2; 26S proteasome regulatory complex component [Posttranslational modification, protein turnover, chaperones]

sd00044
Location:601 → 624

HEAT; HEAT repeat [structural motif]

RNA

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