PSMA1 proteasome 20S subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSMA1provided by HGNC
Official Full Name: proteasome 20S subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:9530
See related: Ensembl:ENSG00000129084 MIM:602854; AllianceGenome:HGNC:9530
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: NU; HC2; PROS30; HEL-S-275
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in appendix (RPKM 35.7), placenta (RPKM 35.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (14504876..14643662, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (14600152..14738957, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (14526422..14665208, complement)

Chromosome 11 - NC_000011.10 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?

PSMA1, a Poor Prognostic Factor, Promotes Tumor Growth in Lung Squamous Cell Carcinoma.
Title: PSMA1, a Poor Prognostic Factor, Promotes Tumor Growth in Lung Squamous Cell Carcinoma.
PSMA1 mediates tumor progression and poor prognosis of gastric carcinoma by deubiquitinating and stabilizing TAZ.
Title: PSMA1 mediates tumor progression and poor prognosis of gastric carcinoma by deubiquitinating and stabilizing TAZ.
Tumor-derived exosomal circPSMA1 facilitates the tumorigenesis, metastasis, and migration in triple-negative breast cancer (TNBC) through miR-637/Akt1/beta-catenin (cyclin D1) axis.
Title: Tumor-derived exosomal circPSMA1 facilitates the tumorigenesis, metastasis, and migration in triple-negative breast cancer (TNBC) through miR-637/Akt1/β-catenin (cyclin D1) axis.
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.
Data indicate that RNA interference screens identified PSMA1, a component of the 20S proteasome as target of non-small cell lung cancer (NSCLC) cytotoxicity.
Title: Proteasome inhibitors block DNA repair and radiosensitize non-small cell lung cancer.
LC/MS/MS analysis revealed that the C-terminal 16 residues of sperm alpha6 subunit are processed.
Title: Sperm-specific C-terminal processing of the proteasome PSMA1/α6 subunit.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study. 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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Replication interactions

Interaction	Pubs
Knockdown of proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1) 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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PSMA1 (e-PCR)
- UniSTS:72272

SHGC-58344 (e-PCR)
- UniSTS:44129

RH104341 (e-PCR)
- UniSTS:98666

RH69446 (e-PCR)
- UniSTS:59762

G19402 (e-PCR)
- UniSTS:68469

RH38736 (e-PCR)
- UniSTS:88705

D11S4431 (e-PCR)
- UniSTS:22423

D11S4651 (e-PCR)
- UniSTS:77758

A008V15 (e-PCR)
- UniSTS:48839

Clone Names

MGC1667, MGC14542, MGC14575, MGC14751, MGC21459, MGC22853, MGC23915

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipopolysaccharide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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
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	ISS Inferred from Sequence or Structural Similarity more info
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

General protein information

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Preferred Names: proteasome subunit alpha type-1

Names: 30 kDa prosomal protein; PROS-30; alpha-6; epididymis secretory protein Li 275; macropain subunit C2; macropain subunit nu; multicatalytic endopeptidase complex subunit C2; proteasome (prosome, macropain) subunit, alpha type, 1; proteasome component C2; proteasome nu chain; proteasome subunit alpha 1; proteasome subunit alpha 6; proteasome subunit nu; proteasome subunit, alpha-type, 1; protein P30-33K; testicular tissue protein Li 150

NP_001137409.1

EC 3.4.25.1

NP_002777.1

EC 3.4.25.1

NP_683877.1

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_001143937.2 → NP_001137409.1 proteasome subunit alpha type-1 isoform 3

See identical proteins and their annotated locations for NP_001137409.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs at both the 5' and 3' termini, compared to variant 1. The encoded isoform (3) has a shorter N- and C-terminus, compared to isoform 1.

Source sequence(s)

AC018523, AK303565, DA549688

UniProtKB/TrEMBL

B4E0X6

Conserved Domains (1) summary

cl00467
Location:6 → 114

Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
NM_002786.4 → NP_002777.1 proteasome subunit alpha type-1 isoform 2

See identical proteins and their annotated locations for NP_002777.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2), also known as the short isoform, has a shorter N-terminus compared to isoform 1.

Source sequence(s)

BC002577, DA549688

Consensus CDS

CCDS7816.1

UniProtKB/Swiss-Prot

A8K400, P25786, Q53YE8, Q9BRV9

UniProtKB/TrEMBL

V9HW55

Related

ENSP00000379676.2, ENST00000396394.7

Conserved Domains (1) summary

cd03749
Location:6 → 216

proteasome_alpha_type_1; 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_148976.3 → NP_683877.1 proteasome subunit alpha type-1 isoform 1

See identical proteins and their annotated locations for NP_683877.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1), also referred to as the long isoform.

Source sequence(s)

AC018523, AC087207, AW015660, BC002577

Consensus CDS

CCDS31431.1

UniProtKB/TrEMBL

V9HW55

Related

ENSP00000414359.2, ENST00000418988.2

Conserved Domains (1) summary

cd03749
Location:12 → 222

proteasome_alpha_type_1; 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 ...