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Psmf1 proteasome (prosome, macropain) inhibitor subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 228769, updated on 2-Nov-2024

Summary

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Official Symbol
Psmf1provided by MGI
Official Full Name
proteasome (prosome, macropain) inhibitor subunit 1provided by MGI
Primary source
MGI:MGI:1346072
See related
Ensembl:ENSMUSG00000032869 AllianceGenome:MGI:1346072
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PI31
Summary
Predicted to enable proteasome binding activity; protein heterodimerization activity; and protein homodimerization activity. Predicted to be involved in negative regulation of proteasomal protein catabolic process and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. Predicted to be part of proteasome complex. Is expressed in several structures, including alimentary system; genitourinary system; immune system; liver and biliary system; and nervous system. Orthologous to human PSMF1 (proteasome inhibitor subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis adult (RPKM 115.5), ovary adult (RPKM 10.6) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Psmf1 in Genome Data Viewer
Location:
2 G3; 2 74.83 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (151557982..151586114, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (151716062..151744199, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene RAD21-like (S. pombe) Neighboring gene transmembrane 74B, opposite strand Neighboring gene transmembrane protein 74B Neighboring gene STARR-seq mESC enhancer starr_06033 Neighboring gene RIKEN cDNA 4930556L07 gene Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The proteasome inhibitor PI31 competes with PA28 for binding to 20S proteasomes. Zaiss DM, et al. FEBS Lett, 1999 Sep 3. PMID 10471803
  2. 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
  3. PI31 Is an Adaptor Protein for Proteasome Transport in Axons and Required for Synaptic Development. Liu K, et al. Dev Cell, 2019 Aug 19. PMID 31327739, Free PMC Article
  4. The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice. Minis A, et al. Proc Natl Acad Sci U S A, 2019 Dec 3. PMID 31754024, Free PMC Article
  5. Widespread and dynamic translational control of red blood cell development. Alvarez-Dominguez JR, et al. Blood, 2017 Feb 2. PMID 27899360, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inactivation of PI31 in mouse neurons attenuated proteasome movement in axons, indicating this process is conserved. Because mutations affecting PI31 activity are associated with human neurodegenerative diseases, impairment of PI31-mediated axonal transport of proteasomes may contribute to these disorders.
    Title: PI31 Is an Adaptor Protein for Proteasome Transport in Axons and Required for Synaptic Development.
  2. Study in global and conditional PI31 knockout mouse establishes a critical role for PI31 and protein degradation in the maintenance of neuronal architecture, circuitry, and function. Because mutations that impair PI31 function are thought to cause neurodegenerative diseases in humans, reduced PI31 activity may contribute to age-related neurodegenerative diseases.
    Title: The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice.
  3. PI31 acts as a selective modulator of the proteasome-mediated steps in MHC class I antigen processing
    Title: PI31 is a modulator of proteasome formation and antigen processing.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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

Clone Names

  • MGC18784

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables proteasome binding ISO
Inferred from Sequence Orthology
more info
  
enables proteasome binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in negative regulation of proteasomal protein catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of proteasomal protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
part_of proteasome complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
proteasome inhibitor PI31 subunit

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_001305244.1 → NP_001292173.1  proteasome inhibitor PI31 subunit isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate start codon, and lacks two exons in the 5' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK083431, AL928988, BE649179
    Conserved Domains (1) summary
    pfam08577
    Location:68 → 134
    PI31_Prot_C; PI31 proteasome regulator

  2. NM_212446.2 → NP_997611.1  proteasome inhibitor PI31 subunit isoform 1

    See identical proteins and their annotated locations for NP_997611.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK053924, AK083431, BE649179
    Consensus CDS
    CCDS16872.1
    UniProtKB/Swiss-Prot
    Q8BHL8, Q8C0G9
    UniProtKB/TrEMBL
    A2AU35, A2VCP7
    Related
    ENSMUSP00000041184.5, ENSMUST00000042452.11
    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    151557982..151586114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006499306.5 → XP_006499369.1  proteasome inhibitor PI31 subunit isoform X1

    UniProtKB/TrEMBL
    A0A1S6GWI1, A2VCP7
    Conserved Domains (2) summary
    pfam08577
    Location:193 → 255
    PI31_Prot_C; PI31 proteasome regulator
    pfam11566
    Location:18 → 155
    PI31_Prot_N; PI31 proteasome regulator N-terminal

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144889.2: Suppressed sequence

    Description
    NM_144889.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BHL8.1 GenPept UniProtKB/Swiss-Prot:Q8BHL8

Gene LinkOut

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