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Aliases for PSMF1 Gene

Aliases for PSMF1 Gene

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

External Ids for PSMF1 Gene

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 (Prosome, Macropain) Inhibitor Subunit 1 (PI31)) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Downstream Signaling Events Of B Cell Receptor (BCR). GO annotations related to this gene include endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMF1 Gene

Genomics for PSMF1 Gene

Genomic Location for PSMF1 Gene

Start:
1,113,263 bp from pter
End:
1,189,415 bp from pter
Size:
76,153 bases
Orientation:
Plus strand

Genomic View for PSMF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMF1 Gene

Regulatory Elements 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

Proteomics data for PSMF1 Gene at MOPED

Post-translational modifications for PSMF1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys125 and Lys148

Other Protein References for PSMF1 Gene

No data available for DME Specific Peptides for PSMF1 Gene

Domains for PSMF1 Gene

Gene Families for PSMF1 Gene

HGNC:
  • PSM :Proteasome (prosome, macropain) subunits

Protein Domains for PSMF1 Gene

UniProtKB/Swiss-Prot:

PSMF1_HUMAN
Family:
  • Belongs to the proteasome inhibitor PI31 family.:
    • Q92530
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.

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:0070628 proteasome binding IDA 10764772
genes like me logo Genes that share ontologies with PSMF1: view

Phenotypes for PSMF1 Gene

GenomeRNAi human phenotypes for PSMF1:
genes like me logo Genes that share phenotypes with PSMF1: view

miRNA for PSMF1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for PSMF1 Gene COMPARTMENTS Subcellular localization image for PSMF1 gene
Compartment Confidence
cytosol 4
nucleus 4
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 18495667
GO:0005829 cytosol TAS --
GO:0005839 proteasome core complex NAS 10764772
genes like me logo Genes that share ontologies with PSMF1: view

Pathways for PSMF1 Gene

SuperPathways for PSMF1 Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.38
2 Class I MHC mediated antigen processing and presentation
3 Cell Cycle, Mitotic
.62
4 Mitotic Metaphase and Anaphase
5 Downstream Signaling Events Of B Cell Receptor (BCR)
genes like me logo Genes that share pathways with PSMF1: view

Pathways by source for PSMF1 Gene

Gene Ontology (GO) - Biological Process for PSMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with PSMF1: view

Transcripts for PSMF1 Gene

Unigene Clusters for PSMF1 Gene

Proteasome (prosome, macropain) inhibitor subunit 1 (PI31):
Representative Sequences:

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
ECgene alternative splicing isoforms for
PSMF1

Expression for PSMF1 Gene

mRNA expression in normal human tissues for PSMF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSMF1 Gene

SOURCE GeneReport for Unigene cluster for PSMF1 Gene Hs.471917

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

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 36
  • 99.38 (n)
  • 98.52 (a)
PSMF1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMF1 36
  • 90.62 (n)
  • 91.48 (a)
PSMF1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMF1 36
  • 89.91 (n)
  • 90.41 (a)
PSMF1 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psmf1 36
  • 86.47 (n)
  • 83.76 (a)
Psmf1 16
Psmf1 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSMF1 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmf1 36
  • 87.08 (n)
  • 86.72 (a)
chicken
(Gallus gallus)
Aves PSMF1 36
  • 64.33 (n)
  • 62.36 (a)
PSMF1 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMF1 37
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii psmf1 36
  • 56.09 (n)
  • 51.66 (a)
psmf1 37
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007418 36
  • 43.97 (n)
  • 33.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta PI31 36
  • 42.47 (n)
  • 33.06 (a)
Species with no ortholog for PSMF1:
  • 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)

Paralogs for PSMF1 Gene

No data available for Paralogs for PSMF1 Gene

Variants for PSMF1 Gene

Sequence variations from dbSNP and Humsavar for PSMF1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs2404 -- 1,166,309(-) GATCT(C/T)GTGCC utr-variant-3-prime
rs14581 -- 1,167,075(+) CATTT(C/T)TTTTG utr-variant-3-prime
rs1018408 -- 1,118,182(-) gaggc(A/G)cagag upstream-variant-2KB, intron-variant
rs1049901 -- 1,167,131(+) TAGGT(A/G)TTCTA utr-variant-3-prime
rs1049957 -- 1,165,487(+) CTTTT(C/T)TTTTT utr-variant-3-prime, intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv912585 CNV Gain 21882294
esv2722050 CNV Deletion 23290073
esv2722052 CNV Deletion 23290073
dgv691e201 CNV Deletion 23290073
dgv692e201 CNV Deletion 23290073
esv2674425 CNV Deletion 23128226
dgv693e201 CNV Deletion 23290073
dgv694e201 CNV Deletion 23290073
esv2722058 CNV Deletion 23290073
nsv179964 CNV Loss 16902084
esv2722059 CNV Deletion 23290073
esv2722060 CNV Deletion 23290073
nsv179100 CNV Loss 16902084
esv2524932 CNV Deletion 19546169
esv2666587 CNV Deletion 23128226
esv1136177 CNV Insertion 17803354
esv270818 CNV Insertion 20981092

Relevant External Links for PSMF1 Gene

HapMap Linkage Disequilibrium report
PSMF1

Disorders for PSMF1 Gene

Relevant External Links for PSMF1

Genetic Association Database (GAD)
PSMF1
genes like me logo Genes that share disorders with PSMF1: view

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

Publications for PSMF1 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  2. The proteasome-dependent proteolytic system. (PMID: 10363639) Tanahashi N. … Tanaka K. (Mol. Biol. Rep. 1999) 2 3
  3. cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. (PMID: 10764772) McCutchen-Maloney S.L. … DeMartino G.N. (J. Biol. Chem. 2000) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. (PMID: 18495667) Kirk R. … McDonald N.Q. (J. Biol. Chem. 2008) 3 4

Products for PSMF1 Gene

Sources for PSMF1 Gene

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