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 n... See more...

Aliases for PSMF1 Gene

Aliases for PSMF1 Gene

  • Proteasome Inhibitor Subunit 1 2 3 5
  • Proteasome (Prosome, Macropain) Inhibitor Subunit 1 (PI31) 2 3
  • Proteasome Inhibitor PI31 Subunit 3 4
  • Proteasome Inhibitor HP131 Subunit 2
  • HPI31 4
  • PI31 3

External Ids for PSMF1 Gene

Previous GeneCards Identifiers for PSMF1 Gene

  • GC20P001087
  • GC20P001088
  • GC20P001041
  • GC20P001094

Summaries for PSMF1 Gene

Entrez Gene Summary for PSMF1 Gene

  • 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]

GeneCards Summary for PSMF1 Gene

PSMF1 (Proteasome Inhibitor Subunit 1) is a Protein Coding gene. Diseases associated with PSMF1 include Parkinson Disease 15, Autosomal Recessive Early-Onset and Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia. Among its related pathways are Metabolism of proteins and RET signaling. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity and proteasome binding.

UniProtKB/Swiss-Prot Summary for PSMF1 Gene

  • Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.

Gene Wiki entry for PSMF1 Gene

Additional gene information for PSMF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMF1 Gene

Genomics for PSMF1 Gene

GeneHancer (GH) Regulatory Elements for PSMF1 Gene

Promoters and enhancers for PSMF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J001117 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 538.7 +5.8 5761 2.8 RXRA EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12 PSMF1 ENSG00000286787 LOC105372493 NONHSAG031094.2 SOX12 TBC1D20 C20orf96 ACTG1P3
GH20J001114 Enhancer 0.6 Ensembl 520.1 +1.0 1040 0.6 CTCF ZBTB11 GABPA GABPB1 ELF1 ETV1 RAD21 ETV4 ZBTB40 HLF PSMF1 ENSG00000286787 LOC105372493
GH20J001113 Promoter 0.6 EPDnew 500.7 +0.0 19 0.1 ZMYM3 ZFP36 ZSCAN4 PSMF1 ENSG00000286787 LOC105372493
GH20J001121 Enhancer 1 ENCODE 37 +9.4 9426 2.4 FOXK2 POLR2G NCOR1 ZNF10 ZBTB11 TCF7 REST ZBTB25 USF2 TOE1 PSMF1 NONHSAG031094.2 ACTG1P3
GH20J001130 Enhancer 0.7 Ensembl ENCODE 32.3 +17.9 17882 1.4 ZNF316 CEBPG MAFK SPI1 POLR2A CEBPB MLLT1 ZNF770 RBFOX2 SRF PSMF1 NONHSAG031094.2 ACTG1P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMF1

Top Transcription factor binding sites by QIAGEN in the PSMF1 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for PSMF1 Gene

Genomic Locations for PSMF1 Gene
chr20:1,113,240-1,189,415
(GRCh38/hg38)
Size:
76,176 bases
Orientation:
Plus strand
chr20:1,093,906-1,160,596
(GRCh37/hg19)
Size:
66,691 bases
Orientation:
Plus strand

Genomic View for PSMF1 Gene

Genes around PSMF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMF1 Gene

Proteins for PSMF1 Gene

  • Protein details for PSMF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92530-PSMF1_HUMAN
    Recommended name:
    Proteasome inhibitor PI31 subunit
    Protein Accession:
    Q92530
    Secondary Accessions:
    • A0AVQ9
    • D3DVW3
    • Q9H4I1

    Protein attributes for PSMF1 Gene

    Size:
    271 amino acids
    Molecular mass:
    29817 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with FBXO7. Interacts with the 20S proteasome.

    Three dimensional structures from OCA and Proteopedia for PSMF1 Gene

neXtProt entry for PSMF1 Gene

Post-translational modifications for PSMF1 Gene

  • Ubiquitination at Lys125 and Lys148
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSMF1 Gene

Domains & Families for PSMF1 Gene

Gene Families for PSMF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PSMF1 Gene

Blocks:
  • PI31 proteasome regulator
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSMF1 Gene

GenScript: Design optimal peptide antigens:
  • Proteasome inhibitor PI31 subunit (PSMF1_HUMAN)
  • Proteasome (Prosome, macropain) inhibitor subunit 1 (PI31) (Q5QPM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92530

UniProtKB/Swiss-Prot:

PSMF1_HUMAN :
  • Belongs to the proteasome inhibitor PI31 family.
Family:
  • Belongs to the proteasome inhibitor PI31 family.
genes like me logo Genes that share domains with PSMF1: view

Function for PSMF1 Gene

Molecular function for PSMF1 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.

Phenotypes From GWAS Catalog for PSMF1 Gene

Gene Ontology (GO) - Molecular Function for PSMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity NAS 10764772
GO:0005515 protein binding IPI 16713569
GO:0042803 protein homodimerization activity IDA 18495667
GO:0046982 protein heterodimerization activity IPI 18495667
GO:0070628 proteasome binding IDA 10764772
genes like me logo Genes that share ontologies with PSMF1: view
genes like me logo Genes that share phenotypes with PSMF1: view

Animal Models for PSMF1 Gene

MGI Knock Outs for PSMF1:
  • Psmf1 Psmf1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSMF1 Gene

Localization for PSMF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMF1 Gene

Cytoplasm. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMF1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 18495667
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMF1: view

Pathways & Interactions for PSMF1 Gene

PathCards logo

SuperPathways for PSMF1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 HIV Life Cycle
.45
4 Class I MHC mediated antigen processing and presentation
5 Cell Cycle, Mitotic
.60
genes like me logo Genes that share pathways with PSMF1: view

Gene Ontology (GO) - Biological Process for PSMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IDA,IBA 10764772
genes like me logo Genes that share ontologies with PSMF1: view

No data available for SIGNOR curated interactions for PSMF1 Gene

Drugs & Compounds for PSMF1 Gene

(2) Drugs for PSMF1 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 888
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMF1: view

Transcripts for PSMF1 Gene

mRNA/cDNA for PSMF1 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: - - -
SP7:

Relevant External Links for PSMF1 Gene

GeneLoc Exon Structure for
PSMF1

Expression for PSMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMF1 Gene



Protein tissue co-expression partners for PSMF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMF1

SOURCE GeneReport for Unigene cluster for PSMF1 Gene:

Hs.471917

Evidence on tissue expression from TISSUES for PSMF1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Skin(2.9)
  • Lung(2.7)
  • Eye(2.5)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with PSMF1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMF1 Gene

Orthologs for PSMF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PSMF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMF1 31 30
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PSMF1 31 30
  • 90.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSMF1 31 30
  • 89.91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmf1 30
  • 87.08 (n)
mouse
(Mus musculus)
Mammalia Psmf1 17 31 30
  • 86.47 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMF1 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSMF1 31 30
  • 64.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMF1 31
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii psmf1 31 30
  • 56.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007418 30
  • 43.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta PI31 30
  • 42.47 (n)
Species where no ortholog for PSMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSMF1 Gene

ENSEMBL:
Gene Tree for PSMF1 (if available)
TreeFam:
Gene Tree for PSMF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMF1: view image

Paralogs for PSMF1 Gene

No data available for Paralogs for PSMF1 Gene

Variants for PSMF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMF1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
724436 Likely Benign: not provided 1,135,221(+) C/T MISSENSE_VARIANT
732687 Benign: not provided 1,125,500(+) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
743026 Likely Benign: not provided 1,163,148(+) G/A SYNONYMOUS_VARIANT
785834 Benign: not provided 1,163,153(+) T/C MISSENSE_VARIANT
rs1803415 - p.Phe36Cys

Additional dbSNP identifiers (rs#s) for PSMF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSMF1 Gene

Variant ID Type Subtype PubMed ID
dgv648e201 CNV deletion 23290073
dgv649e201 CNV deletion 23290073
dgv650e201 CNV deletion 23290073
dgv651e201 CNV deletion 23290073
esv1136177 CNV insertion 17803354
esv2524932 CNV deletion 19546169
esv2666587 CNV deletion 23128226
esv2674425 CNV deletion 23128226
esv2722050 CNV deletion 23290073
esv2722052 CNV deletion 23290073
esv2722058 CNV deletion 23290073
esv2722059 CNV deletion 23290073
esv2722060 CNV deletion 23290073
esv3306542 CNV mobile element insertion 20981092
esv3363197 CNV insertion 20981092
esv3575346 CNV gain 25503493
esv3575348 CNV gain 25503493
esv3644952 CNV gain 21293372
esv3644974 CNV loss 21293372
nsv1057097 CNV gain 25217958
nsv179100 CNV deletion 16902084
nsv179964 CNV deletion 16902084
nsv964368 CNV duplication 23825009

Variation tolerance for PSMF1 Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMF1 Gene

Disorders for PSMF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
parkinson disease 15, autosomal recessive early-onset
  • pps
inclusion body myopathy with paget disease of bone and frontotemporal dementia
  • muscular dystrophy, limb-girdle, with paget disease of bone
- elite association - COSMIC cancer census association via MalaCards
Search PSMF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSMF1

genes like me logo Genes that share disorders with PSMF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMF1 Gene

Publications for PSMF1 Gene

  1. Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. (PMID: 18495667) Kirk R … McDonald NQ (The Journal of biological chemistry 2008) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  4. cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. (PMID: 10764772) McCutchen-Maloney SL … DeMartino GN (The Journal of biological chemistry 2000) 3 4 54
  5. The proteasome-dependent proteolytic system. (PMID: 10363639) Tanahashi N … Tanaka K (Molecular biology reports 1999) 2 3 54

Products for PSMF1 Gene

Sources for PSMF1 Gene