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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]
PSMC1 (Proteasome 26S Subunit, ATPase 1) is a Protein Coding gene. Diseases associated with PSMC1 include Retinitis Pigmentosa 31 and Bjornstad Syndrome. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is PSMC4.
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 CraniofacialAtlas | 250.7 | +0.6 | 574 | 2.6 | TBP SP1 MXD4 FEZF1 SIX5 DEK SMAD5 ETS1 IRF2 MBD2 | PSMC1 KCNK13 HSALNG0103115 NRDE2 | |
GH14J090294 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 11.7 | +42.8 | 42815 | 13.1 | CEBPA CTCF HOMEZ REST FOXA2 SMAD4 MAFF SAP130 MIER3 ZSCAN9 | NRDE2 CALM1 PSMC1 KCNK13 ENSG00000287437 piR-53954 | |
GH14J090280 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 12.3 | +24.9 | 24941 | 1.9 | MAFK ZNF362 NFE2L2 FOS ZNF600 | NRDE2 PSMC1 CALM1 HSALNG0103117 piR-48666 | |
GH14J090291 | Enhancer | 0.3 | ENCODE | 11.7 | +35.5 | 35488 | 0.9 | CUX1 CREB1 | ENSG00000287437 PSMC1 piR-53954 NRDE2 | |
GH14J090292 | Enhancer | 0.3 | Ensembl dbSUPER | 11.7 | +34.7 | 34674 | 0.4 | ENSG00000287437 PSMC1 NRDE2 CALM1 HSALNG0103119 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 9452483 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000502 | proteasome complex | NAS,IDA | 17323924 |
GO:0005634 | nucleus | IEA,HDA | 21630459 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.80
.78
.70
.47
.31
|
2 | RET signaling |
.92
|
.92
|
3 | Chks in Checkpoint Regulation |
Chks in Checkpoint Regulation
.59
G2-M Phase Transition
.59
Estrogen-mediated S-Phase Entry
.55
|
SREBP Proteolysis
.43
DNA Repair Mechanisms
.32
Parkinson's Disease Pathway
.31
|
4 | HIV Life Cycle |
.64
|
.45
|
5 | Pathways of neurodegeneration - multiple diseases |
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | PSMC1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PSMC1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | PSMC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PSMC1 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Psmc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Psmc1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PSMC1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PSMC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PSMC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psmc1 30 |
|
||
Str.4828 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | pros26.4-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | psmc1b 31 |
|
OneToMany | |
psmc1a 30 31 |
|
OneToMany | |||
wufb05d04 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pros26.4 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003215 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rpt-2 30 31 |
|
OneToOne | |
C10G11.8 32 |
|
|
|||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F14707g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPT2 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL011W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20140 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6904 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.11305 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0691800 30 |
|
||
Os.144 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.12805 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.6566 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3260 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rpt2 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11271 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4829 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs143172121 | Benign: not provided | 90,263,394(+) |
A/G NM_002802.3(PSMC1):c.231A>G (p.Glu77=) |
SYNONYMOUS | |
rs193920988 | Uncertain Significance: Malignant tumor of prostate | 90,263,450(+) |
G/A NM_002802.3(PSMC1):c.279+8G>A |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 31 |
|
|
bjornstad syndrome |
|
|
angelman syndrome |
|
|
alzheimer disease |
|
|