PSMD12 - proteasome 26S subunit, non-ATPase 12 Gene
Also Known as p55; Rpn5; STISS
生物種: Homo sapiens
About PSMD12
This gene has 8 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 12.2), bone marrow (RPKM 9.8) and 25 other tissues.
Summary
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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PSMD12 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001316341.2 | NP_001303270.1 | 26S proteasome non-ATPase regulatory subunit 12 isoform 3 |
| NM_002816.5 | NP_002807.1 | 26S proteasome non-ATPase regulatory subunit 12 isoform 1 |
| NM_174871.4 | NP_777360.1 | 26S proteasome non-ATPase regulatory subunit 12 isoform 2 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16990800 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of proteasome complex |
IDA
IDA: Inferred from direct assay
|
17323924 | GOA |
PSMD12 Protein Structure
PCI: PCI domain (300 - 416)
- 0
- 100
- 200
- 300
- 400
- 456 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
26S proteasome non-ATPase regulatory subunit 12 |
|
PSMD12 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
PSMD12 | O00232 | PSMD4 | Homo sapiens | P55036 | 33961781 | |
|
Intra
|
PSMD12 | O00232 | PSMD4 | Homo sapiens | P55036 | 28514442 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Stankiewicz-Isidor Syndrome |
|
|
| Non-Specific Syndromic Intellectual Disability |
|
|
| 17q24.2 Microdeletion Syndrome |
|
|
| Angelman Syndrome |
|
|
| Cystic Fibrosis |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Canis familiaris | PSMD12 | VGNC | VGNC:45108 |
| Mus musculus | PSMD12 | MGD | MGI:1914247 |
| Felis catus | PSMD12 | VGNC | VGNC:69120 |
| Bos taurus | PSMD12 | VGNC | VGNC:33463 |
| Macaca mulatta | PSMD12 | VGNC | VGNC:76451 |
| Rattus norvegicus | PSMD12 | RGD | RGD:1359305 |
| Others | PSMD12 | NCBI |