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Aliases for PSMC1 Gene

Aliases for PSMC1 Gene

  • Proteasome 26S Subunit, ATPase 1 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, ATPase, 1 2 3
  • 26S Proteasome AAA-ATPase Subunit RPT2 3 4
  • 26S Proteasome Regulatory Subunit 4 3
  • 26S Protease Regulatory Subunit 4 3
  • Proteasome 26S ATPase Subunit 1 3
  • Proteasome 26S Subunit ATPase 1 4
  • P26S4 3
  • P26s4 4
  • P56 3
  • S4 3

External Ids for PSMC1 Gene

Previous GeneCards Identifiers for PSMC1 Gene

  • GC14P088228
  • GC14P084538
  • GC14P088712
  • GC14P089792
  • GC14P090722
  • GC14P070897

Summaries for PSMC1 Gene

Entrez Gene Summary for PSMC1 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 one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]

GeneCards Summary for PSMC1 Gene

PSMC1 (Proteasome 26S Subunit, ATPase 1) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and RET signaling. Gene Ontology (GO) annotations related to this gene include ATPase activity.

UniProtKB/Swiss-Prot for PSMC1 Gene

  • Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.

Gene Wiki entry for PSMC1 Gene

Additional gene information for PSMC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMC1 Gene

Genomics for PSMC1 Gene

GeneHancer (GH) Regulatory Elements for PSMC1 Gene

Promoters and enhancers for PSMC1 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
GH14J090255 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 374 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B PSMC1 KCNK13 GC14P090272
GH14J090396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +142.1 142119 4.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC ZNF610 GLIS1 CALM1 GC14P090397 GC14P090398 LOC105370622 LINC02317 NRDE2 ENSG00000259789 GLRXP2 RAB42P1 PSMC1
GH14J090330 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 +75.3 75251 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF766 NRDE2 PSMC1 PIR47953
GH14J090827 Promoter/Enhancer 1.4 Ensembl ENCODE 11 +572.2 572191 2 ATF1 SIN3A ZNF2 POLR2B FOS ATF7 RUNX3 SP3 RXRA NFYC LINC02321 PPP4R3A NRDE2 PSMC1 TTC7B GC14P090848
GH14J091148 Enhancer 1.2 Ensembl ENCODE 11 +893.0 892993 1.5 CLOCK FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF213 FOS REST GC14P091148 SNORA11B DGLUCY TRIP11 PSMC1 PPP4R3A GC14P091227
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSMC1 gene promoter:
  • c-Jun
  • c-Fos
  • AP-1
  • AP-4
  • AML1a
  • ATF
  • FOXJ2 (long isoform)
  • FOXJ2
  • HTF
  • CUTL1

Genomic Locations for PSMC1 Gene

Genomic Locations for PSMC1 Gene
chr14:90,256,495-90,275,429
(GRCh38/hg38)
Size:
18,935 bases
Orientation:
Plus strand
chr14:90,722,839-90,738,968
(GRCh37/hg19)
Size:
16,130 bases
Orientation:
Plus strand

Genomic View for PSMC1 Gene

Genes around PSMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMC1 Gene

Proteins for PSMC1 Gene

  • Protein details for PSMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62191-PRS4_HUMAN
    Recommended name:
    26S proteasome regulatory subunit 4
    Protein Accession:
    P62191
    Secondary Accessions:
    • B4DR63
    • P49014
    • Q03527
    • Q6IAW0
    • Q6NW36
    • Q96AZ3

    Protein attributes for PSMC1 Gene

    Size:
    440 amino acids
    Molecular mass:
    49185 Da
    Quaternary structure:
    • Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits, a base containing 6 ATPases including PSMC1 and few additional components (PubMed:27428775, PubMed:27342858). Interacts with SCA7 (PubMed:11734547). Interacts with NGLY1 (PubMed:15358861). Interacts with PAAF1 (PubMed:15831487).

    Three dimensional structures from OCA and Proteopedia for PSMC1 Gene

    Alternative splice isoforms for PSMC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMC1 Gene

Post-translational modifications for PSMC1 Gene

  • Ubiquitination at Lys423, posLast=387387, posLast=293293, posLast=265265, posLast=258258, posLast=237237, posLast=232232, Lys69, and Lys24
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMC1 Gene

No data available for DME Specific Peptides for PSMC1 Gene

Domains & Families for PSMC1 Gene

Gene Families for PSMC1 Gene

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

Graphical View of Domain Structure for InterPro Entry

P62191

UniProtKB/Swiss-Prot:

PRS4_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PSMC1: view

Function for PSMC1 Gene

Molecular function for PSMC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.
GENATLAS Biochemistry:
multicatalytic proteinase complex (prosome,macropain,26S) 19/225 regulator of proteasome,ATPase subunit,51kDa,? same as ATP1A3

Phenotypes From GWAS Catalog for PSMC1 Gene

Gene Ontology (GO) - Molecular Function for PSMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 9374493
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PSMC1: view
genes like me logo Genes that share phenotypes with PSMC1: view

Animal Models for PSMC1 Gene

MGI Knock Outs for PSMC1:

Animal Model Products

Clone Products

  • Addgene plasmids for PSMC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSMC1 Gene

Localization for PSMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMC1 Gene

Cytoplasm. Nucleus. Membrane; Lipid-anchor.

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 PSMC1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IDA,NAS 17323924
GO:0005634 nucleus IEA,HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMC1: view

Pathways & Interactions for PSMC1 Gene

SuperPathways for PSMC1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 Chks in Checkpoint Regulation
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMC1: view

Gene Ontology (GO) - Biological Process for PSMC1 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:0006457 protein folding TAS --
genes like me logo Genes that share ontologies with PSMC1: view

No data available for SIGNOR curated interactions for PSMC1 Gene

Drugs & Compounds for PSMC1 Gene

(2) Drugs for PSMC1 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 826
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0

(3) Additional Compounds for PSMC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PSMC1: view

Transcripts for PSMC1 Gene

mRNA/cDNA for PSMC1 Gene

Unigene Clusters for PSMC1 Gene

Proteasome (prosome, macropain) 26S subunit, ATPase, 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for PSMC1

Alternative Splicing Database (ASD) splice patterns (SP) for PSMC1 Gene

No ASD Table

Relevant External Links for PSMC1 Gene

GeneLoc Exon Structure for
PSMC1
ECgene alternative splicing isoforms for
PSMC1

Expression for PSMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSMC1 Gene

mRNA differential expression in normal tissues according to GTEx for PSMC1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for PSMC1 Gene

This gene is overexpressed in Lymph node (11.3) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMC1 Gene



Protein tissue co-expression partners for PSMC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMC1 Gene:

PSMC1

SOURCE GeneReport for Unigene cluster for PSMC1 Gene:

Hs.356654

Evidence on tissue expression from TISSUES for PSMC1 Gene

  • Nervous system(4.8)
  • Lung(4.6)
  • Liver(4.4)
  • Bone marrow(4.2)
  • Muscle(2.4)
  • Heart(2.3)
  • Skin(2.1)
  • Spleen(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with PSMC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMC1 Gene

Orthologs for PSMC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMC1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia PSMC1 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSMC1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSMC1 34 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSMC1 34 33
  • 94.09 (n)
OneToMany
-- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Psmc1 16 34 33
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Psmc1 33
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia PSMC1 34 33
  • 88.41 (n)
OneToOne
chicken
(Gallus gallus)
Aves PSMC1 34 33
  • 83.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMC1 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmc1 33
  • 82.12 (n)
Str.4828 33
African clawed frog
(Xenopus laevis)
Amphibia pros26.4-prov 33
zebrafish
(Danio rerio)
Actinopterygii psmc1b 34
  • 97 (a)
OneToMany
psmc1a 34 33
  • 79.17 (n)
OneToMany
wufb05d04 33
fruit fly
(Drosophila melanogaster)
Insecta Pros26.4 34 35 33
  • 74.2 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003216 33
  • 73.4 (n)
worm
(Caenorhabditis elegans)
Secernentea rpt-2 34 33
  • 70.99 (n)
OneToOne
C10G11.8 35
  • 55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14707g 33
  • 66.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPT2 36 34 33
  • 64.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL011W 33
  • 63.93 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20140 33
  • 70.11 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6904 33
soybean
(Glycine max)
eudicotyledons Gma.11305 33
rice
(Oryza sativa)
Liliopsida Os07g0691800 33
  • 68.91 (n)
Os.144 33
barley
(Hordeum vulgare)
Liliopsida Hv.12805 33
wheat
(Triticum aestivum)
Liliopsida Ta.6566 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3260 34
  • 86 (a)
OneToOne
Cin.4829 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpt2 33
  • 66.02 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11271 33
  • 63.78 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4829 33
Species where no ortholog for PSMC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PSMC1 Gene

ENSEMBL:
Gene Tree for PSMC1 (if available)
TreeFam:
Gene Tree for PSMC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMC1: view image

Paralogs for PSMC1 Gene

No data available for Paralogs for PSMC1 Gene

Variants for PSMC1 Gene

Sequence variations from dbSNP and Humsavar for PSMC1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs193920988 uncertain-significance, Malignant tumor of prostate 90,263,450(+) G/A/T intron_variant
rs1000082175 -- 90,256,022(+) G/A upstream_transcript_variant
rs1000110869 -- 90,268,708(+) G/A intron_variant
rs1000133252 -- 90,255,663(+) C/A/T upstream_transcript_variant
rs1000187243 -- 90,260,508(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PSMC1 Gene

Variant ID Type Subtype PubMed ID
nsv974362 CNV duplication 23825009
nsv974363 CNV duplication 23825009
nsv983849 CNV duplication 23825009

Variation tolerance for PSMC1 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMC1 Gene

Disorders for PSMC1 Gene

Additional Disease Information for PSMC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PSMC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSMC1 Gene

Publications for PSMC1 Gene

  1. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. (PMID: 11734547) Matilla A … Fu YH (Human molecular genetics 2001) 3 4 22 58
  2. Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. (PMID: 9473509) Tanahashi N … Tanaka K (Biochemical and biophysical research communications 1998) 2 3 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 58
  5. Proteasomal ATPase-associated factor 1 negatively regulates proteasome activity by interacting with proteasomal ATPases. (PMID: 15831487) Park Y … Yoon JB (Molecular and cellular biology 2005) 3 4 58

Products for PSMC1 Gene