PSMD12 (proteasome 26S subunit, non-ATPase 12)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5718 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Proteasome 26S subunit, non-ATPase 12 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PSMD12 |
SynonymsGene synonyms aliases
|
Rpn5, STISS, p55 |
ChromosomeChromosome number
|
17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q24.2 |
SummarySummary of gene provided in NCBI Entrez 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 a |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs895130488 |
G>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant, stop gained |
rs1114167442 |
G>A,C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
rs1114167443 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1114167444 |
T>C |
Pathogenic |
Splice acceptor variant, non coding transcript variant |
rs1403781576 |
C>A,G |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, coding sequence variant |
rs1567954436 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1567955779 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1598560094 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1598563750 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1598574154 |
GA>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000165 |
Process |
MAPK cascade |
TAS |
|
GO:0000209 |
Process |
Protein polyubiquitination |
TAS |
|
GO:0000502 |
Component |
Proteasome complex |
IDA |
17323924 |
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
|
GO:0002479 |
Process |
Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
16990800, 26030138, 28514442 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005838 |
Component |
Proteasome regulatory particle |
TAS |
9426256 |
GO:0006521 |
Process |
Regulation of cellular amino acid metabolic process |
TAS |
|
GO:0008541 |
Component |
Proteasome regulatory particle, lid subcomplex |
IBA |
21873635 |
GO:0010972 |
Process |
Negative regulation of G2/M transition of mitotic cell cycle |
TAS |
|
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
GO:0022624 |
Component |
Proteasome accessory complex |
ISS |
|
GO:0031145 |
Process |
Anaphase-promoting complex-dependent catabolic process |
TAS |
|
GO:0031146 |
Process |
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process |
TAS |
|
GO:0031595 |
Component |
Nuclear proteasome complex |
IBA |
21873635 |
GO:0033209 |
Process |
Tumor necrosis factor-mediated signaling pathway |
TAS |
|
GO:0034774 |
Component |
Secretory granule lumen |
TAS |
|
GO:0038061 |
Process |
NIK/NF-kappaB signaling |
TAS |
|
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
|
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IBA |
21873635 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
TAS |
|
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0043488 |
Process |
Regulation of mRNA stability |
TAS |
|
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0050852 |
Process |
T cell receptor signaling pathway |
TAS |
|
GO:0055085 |
Process |
Transmembrane transport |
TAS |
|
GO:0060071 |
Process |
Wnt signaling pathway, planar cell polarity pathway |
TAS |
|
GO:0061418 |
Process |
Regulation of transcription from RNA polymerase II promoter in response to hypoxia |
TAS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867 |
GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
|
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
TAS |
|
GO:0090263 |
Process |
Positive regulation of canonical Wnt signaling pathway |
TAS |
|
GO:1901990 |
Process |
Regulation of mitotic cell cycle phase transition |
TAS |
|
GO:1902036 |
Process |
Regulation of hematopoietic stem cell differentiation |
TAS |
|
GO:1904813 |
Component |
Ficolin-1-rich granule lumen |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
O00232 |
Protein name |
26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55) |
Protein 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 |
PDB |
5GJQ
,
5GJR
,
5L4K
,
5LN3
,
5M32
,
5T0C
,
5T0G
,
5T0H
,
5T0I
,
5T0J
,
5VFP
,
5VFQ
,
5VFR
,
5VFS
,
5VFT
,
5VFU
,
5VGZ
,
5VHF
,
5VHH
,
5VHI
,
5VHS
,
6MSB
,
6MSD
,
6MSE
,
6MSG
,
6MSH
,
6MSJ
,
6MSK
,
6WJD
,
6WJN
,
7QXN
,
7QXP
,
7QXU
,
7QXW
,
7QXX
,
7QY7
,
7QYA
,
7QYB
,
7W37
,
7W38
,
7W39
,
7W3A
,
7W3B
,
7W3C
,
7W3F
,
7W3G
,
7W3H
,
7W3I
,
7W3J
,
7W3K
,
7W3M
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01399 |
PCI |
300 → 417 |
PCI domain |
Domain |
PF18098 |
RPN5_C |
422 → 454 |
26S proteasome regulatory subunit RPN5 C-terminal domain |
Domain |
|
Sequence |
|
Sequence length |
456 |
Interactions |
View interactions |
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Tel: +91-22-24192104, Fax No: +91-22-24139412 |