PSMA3 proteasome 20S subunit alpha 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMA3provided by HGNC
Official Full Name: proteasome 20S subunit alpha 3provided by HGNC
Primary source: HGNC:HGNC:9532
See related: Ensembl:ENSG00000100567 MIM:176843; AllianceGenome:HGNC:9532
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: HC8; PSC3
Summary: The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in appendix (RPKM 46.2), lymph node (RPKM 44.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (58244843..58272004)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (52451770..52478987)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (58711561..58738722)

Chromosome 14 - NC_000014.9 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?

Immuno-oncological role of 20S proteasome alpha-subunit 3 in aggravating the progression of esophageal squamous cell carcinoma.
Title: Immuno-oncological role of 20S proteasome alpha-subunit 3 in aggravating the progression of esophageal squamous cell carcinoma.
LncRNA PSMA3-AS1 promotes cell proliferation, migration, and invasion in ovarian cancer by activating the PI3K/Akt pathway via the miR-378a-3p/GALNT3 axis.
Title: LncRNA PSMA3-AS1 promotes cell proliferation, migration, and invasion in ovarian cancer by activating the PI3K/Akt pathway via the miR-378a-3p/GALNT3 axis.
Structural Fluctuations of the Human Proteasome alpha7 Homo-Tetradecamer Double Ring Imply the Proteasomal alpha-Ring Assembly Mechanism.
Title: Structural Fluctuations of the Human Proteasome α7 Homo-Tetradecamer Double Ring Imply the Proteasomal α-Ring Assembly Mechanism.
Study identified that PSMA3 and PSMA3-AS1 in mesenchymal stem cells (MSCs) could be packaged into exosomes and transferred to myeloma cells, thus promoting proteasome inhibitor resistance through a novel exosomal PSMA3-AS1/PSMA3 signaling pathway. PSMA3-AS1 could form an RNA duplex with pre-PSMA3, which transcriptionally promoted PSMA3 expression by increasing its stability.
Title: Exosome-Transmitted PSMA3 and PSMA3-AS1 Promote Proteasome Inhibitor Resistance in Multiple Myeloma.
High PSMA3 expression is associated with cholangiocarcinoma.
Title: Secretomic profiling of cells from hollow fiber bioreactor reveals PSMA3 as a potential cholangiocarcinoma biomarker.
In thyroid hemiagenesis, genomic examinations revealed the presence of four recurrent defects (three deletions and one duplication) affecting highly conservative proteasome genes PSMA1, PSMA3, and PSMD3.
Title: Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Our results provide evidence on new T1DM-susceptible loci in the PSMA3, PSMA6 and PSMC6 proteasome genes and give a new insight into the T1DM pathogenesis
Title: Genetic variations in the PSMA3, PSMA6 and PSMC6 genes are associated with type 1 diabetes in Latvians and with expression level of number of UPS-related and T1DM-susceptible genes in HapMap individuals.
Evidence of a sex-specific association of PSMA3 genetic variants with subtypes of juvenile idiopathic arthritis.
Title: Juvenile idiopathic arthritis subtype- and sex-specific associations with genetic variants in the PSMA6/PSMC6/PSMA3 gene cluster.
Protein interaction between Ambn and Psma3 can facilitate redistribution of ameloblastin domains within forming enamel.
Title: Protein Interaction between Ameloblastin and Proteasome Subunit α Type 3 Can Facilitate Redistribution of Ameloblastin Domains within Forming Enamel.
A combination of two-dimensional gel electrophoresis (2D-GE) and tandem mass-spectrometry revealed a large number of PSMA3-bound proteins that are involved in various aspects of mRNA metabolism, including splicing.
Title: Proteomic analysis of the 20S proteasome (PSMA3)-interacting proteins reveals a functional link between the proteasome and mRNA metabolism.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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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Replication interactions

Interaction	Pubs
Knockdown of proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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

RH69274 (e-PCR)
- UniSTS:22103

PMC310823P11 (e-PCR)
- UniSTS:272743

SHGC-64015 (e-PCR)
- UniSTS:53611

RH17928 (e-PCR)
- UniSTS:51626

SHGC-34645 (e-PCR)
- UniSTS:21203

SHGC-32634 (e-PCR)
- UniSTS:21204

SHGC-30923 (e-PCR)
- UniSTS:4835

RH78140 (e-PCR)
- UniSTS:42225

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
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 core complex	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome core complex, alpha-subunit complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome core complex, alpha-subunit complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proteasome subunit alpha type-3

Names: alpha-7; macropain subunit C8; multicatalytic endopeptidase complex subunit C8; proteasome (prosome, macropain) subunit, alpha type, 3; proteasome component C8; proteasome subunit C8; proteasome subunit alpha 3; proteasome subunit alpha-7; proteasome subunit alpha7; testicular secretory protein Li 43

NP_002779.1

EC 3.4.25.1

NP_687033.1

EC 3.4.25.1

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_002788.4 → NP_002779.1 proteasome subunit alpha type-3 isoform 1

See identical proteins and their annotated locations for NP_002779.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform.

Source sequence(s)

BC038990, CF128376, D00762

Consensus CDS

CCDS9731.1

UniProtKB/Swiss-Prot

B2RCK6, P25788, Q86U83, Q8N1D8, Q9BS70

UniProtKB/TrEMBL

A0A140VK43, Q6IB71

Related

ENSP00000216455.4, ENST00000216455.9

Conserved Domains (1) summary

cd03751
Location:5 → 217

proteasome_alpha_type_3; The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on top of one another forming ...
NM_152132.3 → NP_687033.1 proteasome subunit alpha type-3 isoform 2

See identical proteins and their annotated locations for NP_687033.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

BC005265, CF128376

Consensus CDS

CCDS45113.1

UniProtKB/TrEMBL

Q6IB71

Related

ENSP00000390491.2, ENST00000412908.6

Conserved Domains (1) summary

cd03751
Location:5 → 210

proteasome_alpha_type_3; proteasome_alpha_type_3. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on ...

RNA

NR_038123.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) is represented as non-coding because the use of the expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated decay (NMD). The coding potential from internal start codons is unknown.

Source sequence(s)

BG703488, CF128376, DB520127

Related

ENST00000557508.5