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    PSMA6 proteasome 20S subunit alpha 6 [ Homo sapiens (human) ]

    Gene ID: 5687, updated on 27-Nov-2024

    Summary

    Official Symbol
    PSMA6provided by HGNC
    Official Full Name
    proteasome 20S subunit alpha 6provided by HGNC
    Primary source
    HGNC:HGNC:9535
    See related
    Ensembl:ENSG00000100902 MIM:602855; AllianceGenome:HGNC:9535
    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
    IOTA; p27K; PROS27
    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. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in testis (RPKM 34.7), colon (RPKM 23.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PSMA6 in Genome Data Viewer
    Location:
    14q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35278558..35317493)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29466162..29505113)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35747764..35786699)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene PRORP-PSMA6 readthrough Neighboring gene protein only RNase P catalytic subunit Neighboring gene ribosomal protein L7a pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8266 Neighboring gene ribosomal protein L9 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35761289-35761875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8272 Neighboring gene Sharpr-MPRA regulatory region 8744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35801329-35802250 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:35802261-35802870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35805755-35806276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35811147-35812003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35816286-35816830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35836533-35837122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35837123-35837710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35837711-35838299 Neighboring gene CRISPRi-validated cis-regulatory element chr14.550 Neighboring gene Sharpr-MPRA regulatory region 4470 Neighboring gene PSMA6-RPLP0P3 intergenic CAGE-defined low expression enhancer Neighboring gene Sharpr-MPRA regulatory region 12595 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35873941-35874812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35871323-35872196 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 3 Neighboring gene NFKB inhibitor alpha

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myocardial infarction, susceptibility to
    MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    EBI GWAS Catalog

    HIV-1 interactions

    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
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6) at amino acid residues 30-31 by the HIV-1 protease 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

    Clone Names

    • MGC2333, MGC22756, MGC23846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NF-kappaB binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables purine ribonucleoside triphosphate binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in P-body ISS
    Inferred from Sequence or Structural Similarity
    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 PubMed 
    located_in myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_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 NAS
    Non-traceable Author Statement
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome core complex, alpha-subunit complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of proteasome core complex, alpha-subunit complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in ribosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    proteasome subunit alpha type-6
    Names
    27 kDa prosomal protein
    PROS-27
    alpha-1
    macropain iota chain
    macropain subunit iota
    multicatalytic endopeptidase complex iota chain
    prosomal P27K protein
    proteasome (prosome, macropain) subunit, alpha type, 6
    proteasome iota chain
    proteasome subunit alpha 6
    proteasome subunit alpha-1
    proteasome subunit alpha1
    proteasome subunit iota
    testicular secretory protein Li 44
    NP_001269161.1
    NP_001269162.1
    NP_001269163.1
    NP_002782.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_011703.2 RefSeqGene

      Range
      18825..43936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282232.1NP_001269161.1  proteasome subunit alpha type-6 isoform b

      See identical proteins and their annotated locations for NP_001269161.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of the first exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AK316223, BC002979, BG701535, BQ009843, BU657545
      Consensus CDS
      CCDS61438.1
      UniProtKB/Swiss-Prot
      P60900
      Related
      ENSP00000452566.1, ENST00000555764.5
      Conserved Domains (1) summary
      cl00467
      Location:1141
      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_001282233.1NP_001269162.1  proteasome subunit alpha type-6 isoform b

      See identical proteins and their annotated locations for NP_001269162.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AK298920, BG701535, BQ009843, BU657545
      Consensus CDS
      CCDS61438.1
      UniProtKB/Swiss-Prot
      P60900
      Related
      ENSP00000479620.1, ENST00000622405.4
      Conserved Domains (1) summary
      cl00467
      Location:1141
      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 ...
    3. NM_001282234.1NP_001269163.1  proteasome subunit alpha type-6 isoform c

      See identical proteins and their annotated locations for NP_001269163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate first exon compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA090836, AK302008, BQ009843, HY028439
      Consensus CDS
      CCDS61437.1
      UniProtKB/Swiss-Prot
      P60900
      Related
      ENSP00000444844.1, ENST00000540871.5
      Conserved Domains (1) summary
      cd03754
      Location:7201
      proteasome_alpha_type_6; 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 ...
    4. NM_002791.3NP_002782.1  proteasome subunit alpha type-6 isoform a

      See identical proteins and their annotated locations for NP_002782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL133163, BC002979, BG701535, BQ009843
      Consensus CDS
      CCDS9655.1
      UniProtKB/Swiss-Prot
      B2R7J9, B4DQR4, B4DXJ9, P34062, P60900, Q6IB60
      UniProtKB/TrEMBL
      A0A140VK44
      Related
      ENSP00000261479.4, ENST00000261479.9
      Conserved Domains (1) summary
      cd03754
      Location:8220
      proteasome_alpha_type_6; 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 ...

    RNA

    1. NR_104110.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC002979, BG701535, BQ009843, BU198521, BU657545
      Related
      ENST00000554961.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      35278558..35317493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      29466162..29505113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)