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

Summary

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; eye; genitourinary system; lung; and nervous system. Orthologous to human PSMF1 (proteasome inhibitor subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 protein heterodimerization activity	ISO Inferred from Sequence Orthology 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 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

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology 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)

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
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

151557982..151586114 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NM_144889.2: Suppressed sequence

Description

NM_144889.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.