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

Gene ID: 9491, updated on 3-Nov-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
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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 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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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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