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PSMA4 proteasome 20S subunit alpha 4 [ Homo sapiens (human) ]

Gene ID: 5685, updated on 5-Jan-2020

Summary

Official Symbol
PSMA4provided by HGNC
Official Full Name
proteasome 20S subunit alpha 4provided by HGNC
Primary source
HGNC:HGNC:9533
See related
Ensembl:ENSG00000041357 MIM:176846
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
HC9; PSC9; HsT17706
Summary
This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]
Expression
Ubiquitous expression in appendix (RPKM 63.8), lymph node (RPKM 63.8) and 25 other tissues See more
Orthologs

Genomic context

See PSMA4 in Genome Data Viewer
Location:
15q25.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (78540405..78552417)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78832747..78841562)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene iron responsive element binding protein 2 Neighboring gene hydroxylysine kinase Neighboring gene cholinergic receptor nicotinic alpha 5 subunit Neighboring gene cholinergic receptor nicotinic alpha 3 subunit Neighboring gene cholinergic receptor nicotinic beta 4 subunit

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

NHGRI GWAS Catalog

Description
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
NHGRI GWA Catalog
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
NHGRI GWA Catalog
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: HYKK

Potential readthrough

Included gene: CHRNA5

Homology

Clone Names

  • MGC12467, MGC24813, MGC111191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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 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
 
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 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
 
viral process IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
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 
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, alpha-subunit complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome core complex, alpha-subunit complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
proteasome subunit alpha type-4
Names
macropain subunit C9
multicatalytic endopeptidase complex subunit C9
proteasome (prosome, macropain) subunit, alpha type, 4
proteasome component C9
proteasome subunit HC9
proteasome subunit L
proteasome subunit alpha 4
proteasome subunit alpha3
NP_001096137.1
NP_001096138.1
NP_001317602.1
NP_001317604.1
NP_001317605.1
NP_002780.1

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.

mRNA and Protein(s)

  1. NM_001102667.2NP_001096137.1  proteasome subunit alpha type-4 isoform 1

    See identical proteins and their annotated locations for NP_001096137.1

    Status: REVIEWED

    Source sequence(s)
    BG208993, BG528289, BG616186, BU930105, CD365826
    Consensus CDS
    CCDS10303.1
    UniProtKB/Swiss-Prot
    P25789
    Related
    ENSP00000453887.1, ENST00000559082.5
    Conserved Domains (1) summary
    cd03752
    Location:3216
    proteasome_alpha_type_4; 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 ...
  2. NM_001102668.2NP_001096138.1  proteasome subunit alpha type-4 isoform 2

    See identical proteins and their annotated locations for NP_001096138.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC093069, BG208993, BG528289, CN337296
    Consensus CDS
    CCDS45319.1
    UniProtKB/Swiss-Prot
    P25789
    Related
    ENSP00000402118.2, ENST00000413382.6
    Conserved Domains (1) summary
    cl00467
    Location:1145
    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_001330673.1NP_001317602.1  proteasome subunit alpha type-4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    BF589105, BG208993, BG528289, BU188756
    Consensus CDS
    CCDS86478.1
    UniProtKB/TrEMBL
    H0YLC2
    Related
    ENSP00000453145.1, ENST00000558281.5
    Conserved Domains (1) summary
    cl00467
    Location:3169
    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 ...
  4. NM_001330675.1NP_001317604.1  proteasome subunit alpha type-4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC027228
    Consensus CDS
    CCDS86479.1
    UniProtKB/TrEMBL
    H0YN18
    Related
    ENSP00000453829.1, ENST00000560217.5
    Conserved Domains (1) summary
    cl00467
    Location:3185
    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 ...
  5. NM_001330676.1NP_001317605.1  proteasome subunit alpha type-4 isoform 1

    Status: REVIEWED

    Source sequence(s)
    BG208993, BG772003, D00763, HY030880
    Consensus CDS
    CCDS10303.1
    UniProtKB/Swiss-Prot
    P25789
    Related
    ENSP00000453802.1, ENST00000559365.5
    Conserved Domains (1) summary
    cd03752
    Location:3216
    proteasome_alpha_type_4; 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 ...
  6. NM_002789.6NP_002780.1  proteasome subunit alpha type-4 isoform 1

    See identical proteins and their annotated locations for NP_002780.1

    Status: REVIEWED

    Source sequence(s)
    AC027228, BC022445, BC030529, BG208993, BG528289, CD365826
    Consensus CDS
    CCDS10303.1
    UniProtKB/Swiss-Prot
    P25789
    Related
    ENSP00000044462.7, ENST00000044462.12
    Conserved Domains (1) summary
    cd03752
    Location:3216
    proteasome_alpha_type_4; 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 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    78540405..78552417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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