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The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
PSMA6 (Proteasome 20S Subunit Alpha 6) is a Protein Coding gene. Diseases associated with PSMA6 include Myocardial Infarction and Cystic Fibrosis. 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 RNA binding and NF-kappaB binding. An important paralog of this gene is PSMA7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IDA,NAS | 7681138 |
GO:0004175 | endopeptidase activity | NAS | 7681138 |
GO:0005515 | protein binding | IPI | 14733938 |
GO:0035639 | purine ribonucleoside triphosphate binding | NAS | 7681138 |
GO:0051059 | NF-kappaB binding | IPI | 14743216 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000502 | proteasome complex | IEA,IDA | 17323924 |
GO:0000932 | P-body | ISS | -- |
GO:0005634 | nucleus | IEA,IDA | 7681138 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
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:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
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 | 926 | |
carfilzomib | Approved, Investigational | Pharma | other, Inhibitor | Other, 20S Proteasome Inhibitor | 0 | |
(3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE | Experimental | Pharma | Target | 0 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PSMA6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PSMA6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PSMA6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PSMA6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PSMA6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Psma6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Psma6 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PSMA6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PSMA6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psma6 30 |
|
||
MGC76321 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15878 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | psma6b 31 |
|
OneToMany | |
psma6a 30 31 |
|
OneToMany | |||
zgc:92716 30 |
|
||||
psma6l 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Prosalpha1 31 |
|
OneToMany | |
Prosalpha6 32 |
|
|
|||
CG30382 30 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003935 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pas-1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCL1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A05027g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL089W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PAA1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7441 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.17539 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0180400 30 |
|
||
Os.3704 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.6366 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.6475 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3422 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8137 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC646.16 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU10061 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1048990 | Risk Factor: Myocardial infarction | 35,292,469(+) |
C/G NM_002791.3(PSMA6):c.-8C>G |
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1868n100 | CNV | gain | 25217958 |
dgv1869n100 | CNV | gain | 25217958 |
esv2661597 | CNV | deletion | 23128226 |
esv3584260 | CNV | gain | 25503493 |
nsv1134369 | CNV | deletion | 24896259 |
nsv456205 | CNV | loss | 19166990 |
nsv564318 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myocardial infarction |
|
|
cystic fibrosis |
|
|