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

Gene ID: 5687, updated on 9-Feb-2020

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
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

Genomic context

See PSMA6 in Genome Data Viewer
Location:
14q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (35278558..35317493)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35747811..35786680)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein only RNase P catalytic subunit Neighboring gene ribosomal protein L7a pseudogene 3 Neighboring gene ribosomal protein L9 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 8744 Neighboring gene CRISPRi-validated cis-regulatory element chr14.550

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 1
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies three psoriasis susceptibility loci.
NHGRI GWA 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

Homology

Clone Names

  • MGC2333, MGC22756, MGC23846

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
purine ribonucleoside triphosphate binding NAS
Non-traceable Author Statement
more info
PubMed 
threonine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
NIK/NF-kappaB signaling TAS
Traceable Author Statement
more info
 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasomal protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasomal ubiquitin-independent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
proteolysis involved in cellular protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular amino acid metabolic process TAS
Traceable Author Statement
more info
 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
regulation of mRNA stability TAS
Traceable Author Statement
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
P-body ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
myofibril ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
polysome IDA
Inferred from Direct Assay
more info
PubMed 
proteasome complex IDA
Inferred from Direct Assay
more info
PubMed 
proteasome core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome core complex ISS
Inferred from Sequence or Structural Similarity
more info
 
proteasome core complex NAS
Non-traceable Author Statement
more info
PubMed 
proteasome core complex, alpha-subunit complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome core complex, alpha-subunit complex IDA
Inferred from Direct Assay
more info
PubMed 
proteasome core complex, alpha-subunit complex ISS
Inferred from Sequence or Structural Similarity
more info
 
proteasome core complex, alpha-subunit complex TAS
Traceable Author Statement
more info
PubMed 
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
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 alpha1
proteasome subunit iota
testicular secretory protein Li 44
NP_001269161.1
NP_001269162.1
NP_001269163.1
NP_002782.1
XP_016876957.1

NCBI Reference Sequences (RefSeq)

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; 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 ...
  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
    P60900
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017021468.1XP_016876957.1  proteasome subunit alpha type-6 isoform X1

    UniProtKB/Swiss-Prot
    P60900
    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 ...
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