PSMD12 (proteasome 26S subunit, non-ATPase 12)

2015-10-01  

Identity

HGNC
PSMD12
LOCATION
17q24.2
LOCUSID
5718
ALIAS
Rpn5,STISS,p55
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5718
MIM: 604450
HGNC: 9557
Ensembl: ENSG00000197170

Variants:

dbSNP: 5718
ClinVar: 5718
TCGA: ENSG00000197170
COSMIC: PSMD12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197170ENST00000356126O00232
ENSG00000197170ENST00000356126A0A0S2Z489
ENSG00000197170ENST00000357146O00232
ENSG00000197170ENST00000579365J3KTJ5
ENSG00000197170ENST00000584008J3KSK1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ProteasomeKEGGko03050
ProteasomeKEGGhsa03050
Proteasome, 19S regulatory particle (PA700)KEGGhsa_M00341
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Proteasome, 19S regulatory particle (PA700)KEGGM00341
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Hh mutants abrogate ligand secretionREACTOMER-HSA-5387390
Hh mutants that don't undergo autocatalytic processing are degraded by ERADREACTOMER-HSA-5362768
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
Vif-mediated degradation of APOBEC3GREACTOMER-HSA-180585
Vpu mediated degradation of CD4REACTOMER-HSA-180534
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Downstream TCR signalingREACTOMER-HSA-202424
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
Activation of NF-kappaB in B cellsREACTOMER-HSA-1169091
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Cross-presentation of soluble exogenous antigens (endosomes)REACTOMER-HSA-1236978
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Regulation of RAS by GAPsREACTOMER-HSA-5658442
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
FCERI mediated NF-kB activationREACTOMER-HSA-2871837
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
Dectin-1 mediated noncanonical NF-kB signalingREACTOMER-HSA-5607761
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
TNFR2 non-canonical NF-kB pathwayREACTOMER-HSA-5668541
NIK-->noncanonical NF-kB signalingREACTOMER-HSA-5676590
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by WntREACTOMER-HSA-195721
Degradation of beta-catenin by the destruction complexREACTOMER-HSA-195253
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Degradation of DVLREACTOMER-HSA-4641258
Degradation of AXINREACTOMER-HSA-4641257
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
PCP/CE pathwayREACTOMER-HSA-4086400
Asymmetric localization of PCP proteinsREACTOMER-HSA-4608870
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346
Hedgehog 'off' stateREACTOMER-HSA-5610787
GLI3 is processed to GLI3R by the proteasomeREACTOMER-HSA-5610785
Degradation of GLI2 by the proteasomeREACTOMER-HSA-5610783
Degradation of GLI1 by the proteasomeREACTOMER-HSA-5610780
Hedgehog 'on' stateREACTOMER-HSA-5632684
Gene ExpressionREACTOMER-HSA-74160
Regulation of mRNA stability by proteins that bind AU-rich elementsREACTOMER-HSA-450531
AUF1 (hnRNP D0) binds and destabilizes mRNAREACTOMER-HSA-450408
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G1/S DNA Damage CheckpointsREACTOMER-HSA-69615
p53-Dependent G1/S DNA damage checkpointREACTOMER-HSA-69580
p53-Dependent G1 DNA Damage ResponseREACTOMER-HSA-69563
Stabilization of p53REACTOMER-HSA-69541
Autodegradation of the E3 ubiquitin ligase COP1REACTOMER-HSA-349425
p53-Independent G1/S DNA damage checkpointREACTOMER-HSA-69613
p53-Independent DNA Damage ResponseREACTOMER-HSA-69610
Ubiquitin Mediated Degradation of Phosphorylated Cdc25AREACTOMER-HSA-69601
G2/M CheckpointsREACTOMER-HSA-69481
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G1/S TransitionREACTOMER-HSA-69206
Cyclin E associated events during G1/S transitionREACTOMER-HSA-69202
SCF(Skp2)-mediated degradation of p27/p21REACTOMER-HSA-187577
S PhaseREACTOMER-HSA-69242
Cyclin A:Cdk2-associated events at S phase entryREACTOMER-HSA-69656
Synthesis of DNAREACTOMER-HSA-69239
Switching of origins to a post-replicative stateREACTOMER-HSA-69052
Orc1 removal from chromatinREACTOMER-HSA-68949
CDK-mediated phosphorylation and removal of Cdc6REACTOMER-HSA-69017
Ubiquitin-dependent degradation of Cyclin DREACTOMER-HSA-75815
Ubiquitin-dependent degradation of Cyclin D1REACTOMER-HSA-69229
Regulation of DNA replicationREACTOMER-HSA-69304
Removal of licensing factors from originsREACTOMER-HSA-69300
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
M PhaseREACTOMER-HSA-68886
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
M/G1 TransitionREACTOMER-HSA-68874
DNA Replication Pre-InitiationREACTOMER-HSA-69002
Assembly of the pre-replicative complexREACTOMER-HSA-68867
CDT1 association with the CDC6:ORC:origin complexREACTOMER-HSA-68827
Regulation of mitotic cell cycleREACTOMER-HSA-453276
APC/C-mediated degradation of cell cycle proteinsREACTOMER-HSA-174143
Regulation of APC/C activators between G1/S and early anaphaseREACTOMER-HSA-176408
SCF-beta-TrCP mediated degradation of Emi1REACTOMER-HSA-174113
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteinsREACTOMER-HSA-176814
APC/C:Cdc20 mediated degradation of mitotic proteinsREACTOMER-HSA-176409
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpointREACTOMER-HSA-179419
Cdc20:Phospho-APC/C mediated degradation of Cyclin AREACTOMER-HSA-174184
APC/C:Cdc20 mediated degradation of SecurinREACTOMER-HSA-174154
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1REACTOMER-HSA-174178
Autodegradation of Cdh1 by Cdh1:APC/CREACTOMER-HSA-174084
DNA ReplicationREACTOMER-HSA-69306
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Metabolism of polyaminesREACTOMER-HSA-351202
Regulation of ornithine decarboxylase (ODC)REACTOMER-HSA-350562
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Regulation of ApoptosisREACTOMER-HSA-169911
Regulation of activated PAK-2p34 by proteasome mediated degradationREACTOMER-HSA-211733
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to hypoxiaREACTOMER-HSA-2262749
Regulation of Hypoxia-inducible Factor (HIF) by oxygenREACTOMER-HSA-1234174
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaREACTOMER-HSA-1234176
The role of GTSE1 in G2/M progression after G2 checkpointREACTOMER-HSA-8852276
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603
Ub-specific processing proteasesREACTOMER-HSA-5689880
RET signalingREACTOMER-HSA-8853659
Neutrophil degranulationREACTOMER-HSA-6798695
FBXL7 down-regulates AURKA during mitotic entry and in early mitosisREACTOMER-HSA-8854050

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382430442024PSMD12 promotes non-small cell lung cancer progression through activating the Nrf2/TrxR1 pathway.0
382430442024PSMD12 promotes non-small cell lung cancer progression through activating the Nrf2/TrxR1 pathway.0
370379072023PSMD12 interacts with CDKN3 and facilitates pancreatic cancer progression.2
370379072023PSMD12 interacts with CDKN3 and facilitates pancreatic cancer progression.2
350801502022Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.11
361372202022PSMD12 promotes the activation of the MEK-ERK pathway by upregulating KIF15 to promote the malignant progression of liver cancer.3
350801502022Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.11
361372202022PSMD12 promotes the activation of the MEK-ERK pathway by upregulating KIF15 to promote the malignant progression of liver cancer.3
322222792020PSMD12 promotes breast cancer growth via inhibiting the expression of pro-apoptotic genes.11
322222792020PSMD12 promotes breast cancer growth via inhibiting the expression of pro-apoptotic genes.11
304215792018PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.17
304215792018PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.17
281326912017De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.48
281326912017De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.48

Citation

Dessen P

PSMD12 (proteasome 26S subunit, non-ATPase 12)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55415/deep-insight-explorer/js/web-card-gene.js