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    PSMF1 proteasome inhibitor subunit 1 [ Homo sapiens (human) ]

    Gene ID: 9491, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PSMF1provided by HGNC
    Official Full Name
    proteasome inhibitor subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:9571
    See related
    Ensembl:ENSG00000125818 MIM:617858; AllianceGenome:HGNC:9571
    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
    PI31
    Summary
    The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 17.3), ovary (RPKM 9.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PSMF1 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1113263..1172246)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1160211..1219464)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1093906..1152890)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene angiopoietin 4 Neighboring gene uncharacterized LOC105372492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:925889-926498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:932465-932965 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:952527-953244 Neighboring gene R-spondin 4 Neighboring gene Sharpr-MPRA regulatory region 1111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12586 Neighboring gene NANOG hESC enhancer GRCh37_chr20:1067234-1067735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17450 Neighboring gene uncharacterized LOC105372493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1098996-1099638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1141197-1141698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17455 Neighboring gene Sharpr-MPRA regulatory region 3766 Neighboring gene uncharacterized LOC124904855 Neighboring gene actin gamma 1 pseudogene 3 Neighboring gene transmembrane protein 74B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The FP domains of PI31 and Fbxo7 have the same protein fold but very different modes of protein-protein interaction. Shang J, et al. J Biomol Struct Dyn, 2015. PMID 25266262
    2. The proteasome-dependent proteolytic system. Tanahashi N, et al. Mol Biol Rep, 1999 Apr. PMID 10363639
    3. PI31 is a modulator of proteasome formation and antigen processing. Zaiss DM, et al. Proc Natl Acad Sci U S A, 2002 Oct 29. PMID 12374861, Free PMC Article
    4. cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. McCutchen-Maloney SL, et al. J Biol Chem, 2000 Jun 16. PMID 10764772
    5. Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. Yang S, et al. Cancer Immunol Immunother, 2021 Oct. PMID 33651148, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.
      Title: Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.
    2. NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses.
      Title: NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses.
    3. cellular roles and mechanisms of PI31 in regulation of proteasome function remain unclear and require future definition.
      Title: Molecular and cellular roles of PI31 (PSMF1) protein in regulation of proteasome function.
    4. a model for FP domain-mediated dimerization of SCF(Fbxo7) and PI31
      Title: Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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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    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

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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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables proteasome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proteasome core complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proteasome inhibitor PI31 subunit
    Names
    proteasome (prosome, macropain) inhibitor subunit 1 (PI31)

    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_001323407.2 → NP_001310336.1  proteasome inhibitor PI31 subunit isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA699495, AK302164, AL031665, BC126462
      UniProtKB/TrEMBL
      B4DXW9

    2. NM_001323408.2 → NP_001310337.1  proteasome inhibitor PI31 subunit isoform 4

      Status: REVIEWED

      Source sequence(s)
      AA699495, AL031665, DC398668
      Consensus CDS
      CCDS82589.1
      UniProtKB/TrEMBL
      Q5QPM7
      Related
      ENSP00000246015.4, ENST00000246015.8
      Conserved Domains (2) summary
      pfam08577
      Location:182 → 248
      PI31_Prot_C; PI31 proteasome regulator
      pfam11566
      Location:11 → 148
      PI31_Prot_N; PI31 proteasome regulator N-terminal

    3. NM_001323409.2 → NP_001310338.1  proteasome inhibitor PI31 subunit isoform 5

      Status: REVIEWED

      Source sequence(s)
      AA699495, AL031665, DC398668
      Conserved Domains (2) summary
      pfam08577
      Location:182 → 248
      PI31_Prot_C; PI31 proteasome regulator
      pfam11566
      Location:11 → 148
      PI31_Prot_N; PI31 proteasome regulator N-terminal

    4. NM_001323410.2 → NP_001310339.1  proteasome inhibitor PI31 subunit isoform 6

      Status: REVIEWED

      Source sequence(s)
      AA699495, AL031665, DC398668
      Conserved Domains (2) summary
      pfam08577
      Location:182 → 248
      PI31_Prot_C; PI31 proteasome regulator
      pfam11566
      Location:11 → 148
      PI31_Prot_N; PI31 proteasome regulator N-terminal

    5. NM_006814.5 → NP_006805.2  proteasome inhibitor PI31 subunit isoform 1

      See identical proteins and their annotated locations for NP_006805.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA699495, AL031665, BC126127, D88378, DC398668
      Consensus CDS
      CCDS13010.1
      UniProtKB/Swiss-Prot
      A0AVQ9, D3DVW3, Q92530, Q9H4I1
      UniProtKB/TrEMBL
      A0A140VJT2
      Related
      ENSP00000338039.6, ENST00000335877.11
      Conserved Domains (2) summary
      pfam08577
      Location:182 → 248
      PI31_Prot_C; PI31 proteasome regulator
      pfam11566
      Location:11 → 148
      PI31_Prot_N; PI31 proteasome regulator N-terminal

    6. NM_178578.4 → NP_848693.2  proteasome inhibitor PI31 subunit isoform 1

      See identical proteins and their annotated locations for NP_848693.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA699495, AF055032, AL031665, BC126462, DA949012, DC398121
      Consensus CDS
      CCDS13010.1
      UniProtKB/Swiss-Prot
      A0AVQ9, D3DVW3, Q92530, Q9H4I1
      UniProtKB/TrEMBL
      A0A140VJT2
      Related
      ENSP00000327704.3, ENST00000333082.7
      Conserved Domains (2) summary
      pfam08577
      Location:182 → 248
      PI31_Prot_C; PI31 proteasome regulator
      pfam11566
      Location:11 → 148
      PI31_Prot_N; PI31 proteasome regulator N-terminal

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1113263..1172246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1160211..1219464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178579.1: Suppressed sequence

      Description
      NM_178579.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92530.2 GenPept UniProtKB/Swiss-Prot:Q92530

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