PSME4 proteasome activator subunit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSME4provided by HGNC
Official Full Name: proteasome activator subunit 4provided by HGNC
Primary source: HGNC:HGNC:20635
See related: Ensembl:ENSG00000068878 MIM:607705; AllianceGenome:HGNC:20635
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Blm10; PA200; hBlm10
Summary: Predicted to enable lysine-acetylated histone binding activity; peptidase activator activity; and proteasome binding activity. Predicted to be involved in DNA repair; proteasomal ubiquitin-independent protein catabolic process; and sperm DNA condensation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 32.8), endometrium (RPKM 14.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.2

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (53864069..53970993, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (53860299..53967209, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (54091206..54198130, complement)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The proteasome regulator PSME4 modulates proteasome activity and antigen diversity to abrogate antitumor immunity in NSCLC.
Title: The proteasome regulator PSME4 modulates proteasome activity and antigen diversity to abrogate antitumor immunity in NSCLC.
Cells Lacking PA200 Adapt to Mitochondrial Dysfunction by Enhancing Glycolysis via Distinct Opa1 Processing.
Title: Cells Lacking PA200 Adapt to Mitochondrial Dysfunction by Enhancing Glycolysis via Distinct Opa1 Processing.
The Proteasome Activators Blm10/PA200 Enhance the Proteasomal Degradation of N-Terminal Huntingtin.
Title: The Proteasome Activators Blm10/PA200 Enhance the Proteasomal Degradation of N-Terminal Huntingtin.
The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells.
Title: The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells.
Proteasome activator PA200 regulates myofibroblast differentiation.
Title: Proteasome activator PA200 regulates myofibroblast differentiation.
Its 3.0 A resolution cryo-EM structure reveals the PA200 unique architecture; the details of its intricate interactions with the proteasome, resulting in unparalleled proteasome alpha ring rearrangements; and the molecular basis for PA200 allosteric modulation of the proteasome active sites.
Title: Characterization of Fully Recombinant Human 20S and 20S-PA200 Proteasome Complexes.
this degradation of acetylated histones is independent of ubiquitylation but requires the PA200-proteasome activator, a complex that specifically targets acetylated histones for degradation
Title: DNA damage-induced replication stress results in PA200-proteasome-mediated degradation of acetylated histones.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
identified a novel 200 kDa nuclear protein that activates the proteasome; findings implicate PA200 in DNA repair, possibly by recruiting proteasomes to double strand breaks
Title: PA200, a nuclear proteasome activator involved in DNA repair.

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Phenotypes

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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
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

D8S2279 (e-PCR)
- UniSTS:473907

WI-11560 (e-PCR)
- UniSTS:42578

RH120829 (e-PCR)
- UniSTS:133483

RH68270 (e-PCR)
- UniSTS:40061

A008R18 (e-PCR)
- UniSTS:26246

SGC35022 (e-PCR)
- UniSTS:17555

RH93416 (e-PCR)
- UniSTS:90771

SHGC-102115 (e-PCR)
- UniSTS:168894

RH35907 (e-PCR)
- UniSTS:38649

D3S3883 (e-PCR)
- UniSTS:50175

BCD1993 (e-PCR)
- UniSTS:59647

Clone Names

FLJ21864, KIAA0077, MGC138374, MGC142228

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lysine-acetylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables lysine-acetylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables peptidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables proteasome binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasomal ubiquitin-independent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasomal ubiquitin-independent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm DNA condensation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
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
part_of spermatoproteasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of spermatoproteasome complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: proteasome activator complex subunit 4

Names: proteasome (prosome, macropain) activator subunit 4; proteasome activator 200 kDa; proteasome activator PA200; protein BLM10 homolog

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_014614.3 → NP_055429.2 proteasome activator complex subunit 4

See identical proteins and their annotated locations for NP_055429.2

Status: VALIDATED

Source sequence(s)

AA884260, AC008068, AL045471, AY894754, BC113668

Consensus CDS

CCDS33197.2

UniProtKB/Swiss-Prot

Q14997, Q1XBG4, Q1XBG5, Q1XBG6, Q2M1Z0, Q6IPR2, Q86XF8

Related

ENSP00000384211.1, ENST00000404125.6

Conserved Domains (3) summary

sd00044
Location:1642 → 1671

HEAT; HEAT repeat [structural motif]

pfam11919
Location:1757 → 1842

DUF3437; Domain of unknown function (DUF3437)

pfam16507
Location:330 → 828

BLM10_mid; Proteasome-substrate-size regulator, mid region