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

Gene ID: 5682, updated on 5-Jan-2022

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
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
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Genomic context

See PSMA1 in Genome Data Viewer
Location:
11p15.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (14504876..14643662, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (14526422..14665208, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L13a-like Neighboring gene COPI coat complex subunit beta 1 Neighboring gene RNA, U7 small nuclear 49 pseudogene Neighboring gene phosphodiesterase 3B Neighboring gene mortality factor 4 like 1 pseudogene 3 Neighboring gene uncharacterized LOC107984315

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
GeneReviews: Not available
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
GeneReviews: Not available

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding TAS
Traceable Author Statement
more info
PubMed 
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 proteasomal protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of polysome TAS
Traceable Author Statement
more info
PubMed 
part_of proteasome complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of proteasome core complex IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
part_of proteasome core complex, alpha-subunit complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
proteasome subunit alpha type-1
Names
30 kDa prosomal protein
PROS-30
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
NP_002777.1
NP_683877.1

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)

  1. NM_001143937.2NP_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:6114
    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 ...
  2. NM_002786.4NP_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
    P25786
    Related
    ENSP00000379676.2, ENST00000396394.7
    Conserved Domains (1) summary
    cd03749
    Location:6216
    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 ...
  3. NM_148976.3NP_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/Swiss-Prot
    P25786
    Related
    ENSP00000414359.2, ENST00000418988.2
    Conserved Domains (1) summary
    cd03749
    Location:12222
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    14504876..14643662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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