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

2015-10-01 Affiliation

Identity

HGNC

PSMD12

LOCATION

17q24.2

LOCUSID

5718

ALIAS

Rpn5,STISS,p55

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197170	ENST00000356126	O00232
ENSG00000197170	ENST00000356126	A0A0S2Z489
ENSG00000197170	ENST00000357146	O00232
ENSG00000197170	ENST00000579365	J3KTJ5
ENSG00000197170	ENST00000584008	J3KSK1

Expression (GTEx)

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

Pathway	Source	External ID
Proteasome	KEGG	ko03050
Proteasome	KEGG	hsa03050
Proteasome, 19S regulatory particle (PA700)	KEGG	hsa_M00341
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
Proteasome, 19S regulatory particle (PA700)	KEGG	M00341
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Hh mutants abrogate ligand secretion	REACTOME	R-HSA-5387390
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD	REACTOME	R-HSA-5362768
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
ABC transporter disorders	REACTOME	R-HSA-5619084
Defective CFTR causes cystic fibrosis	REACTOME	R-HSA-5678895
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
Host Interactions of HIV factors	REACTOME	R-HSA-162909
Vif-mediated degradation of APOBEC3G	REACTOME	R-HSA-180585
Vpu mediated degradation of CD4	REACTOME	R-HSA-180534
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
TCR signaling	REACTOME	R-HSA-202403
Downstream TCR signaling	REACTOME	R-HSA-202424
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)	REACTOME	R-HSA-1168372
Activation of NF-kappaB in B cells	REACTOME	R-HSA-1169091
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradation	REACTOME	R-HSA-983168
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
ER-Phagosome pathway	REACTOME	R-HSA-1236974
Cross-presentation of soluble exogenous antigens (endosomes)	REACTOME	R-HSA-1236978
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Regulation of RAS by GAPs	REACTOME	R-HSA-5658442
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
FCERI mediated NF-kB activation	REACTOME	R-HSA-2871837
C-type lectin receptors (CLRs)	REACTOME	R-HSA-5621481
CLEC7A (Dectin-1) signaling	REACTOME	R-HSA-5607764
Dectin-1 mediated noncanonical NF-kB signaling	REACTOME	R-HSA-5607761
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
TNFR2 non-canonical NF-kB pathway	REACTOME	R-HSA-5668541
NIK-->noncanonical NF-kB signaling	REACTOME	R-HSA-5676590
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
MAPK6/MAPK4 signaling	REACTOME	R-HSA-5687128
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Degradation of beta-catenin by the destruction complex	REACTOME	R-HSA-195253
TCF dependent signaling in response to WNT	REACTOME	R-HSA-201681
Degradation of DVL	REACTOME	R-HSA-4641258
Degradation of AXIN	REACTOME	R-HSA-4641257
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
PCP/CE pathway	REACTOME	R-HSA-4086400
Asymmetric localization of PCP proteins	REACTOME	R-HSA-4608870
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Signaling by Hedgehog	REACTOME	R-HSA-5358351
Hedgehog ligand biogenesis	REACTOME	R-HSA-5358346
Hedgehog 'off' state	REACTOME	R-HSA-5610787
GLI3 is processed to GLI3R by the proteasome	REACTOME	R-HSA-5610785
Degradation of GLI2 by the proteasome	REACTOME	R-HSA-5610783
Degradation of GLI1 by the proteasome	REACTOME	R-HSA-5610780
Hedgehog 'on' state	REACTOME	R-HSA-5632684
Gene Expression	REACTOME	R-HSA-74160
Regulation of mRNA stability by proteins that bind AU-rich elements	REACTOME	R-HSA-450531
AUF1 (hnRNP D0) binds and destabilizes mRNA	REACTOME	R-HSA-450408
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle Checkpoints	REACTOME	R-HSA-69620
G1/S DNA Damage Checkpoints	REACTOME	R-HSA-69615
p53-Dependent G1/S DNA damage checkpoint	REACTOME	R-HSA-69580
p53-Dependent G1 DNA Damage Response	REACTOME	R-HSA-69563
Stabilization of p53	REACTOME	R-HSA-69541
Autodegradation of the E3 ubiquitin ligase COP1	REACTOME	R-HSA-349425
p53-Independent G1/S DNA damage checkpoint	REACTOME	R-HSA-69613
p53-Independent DNA Damage Response	REACTOME	R-HSA-69610
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A	REACTOME	R-HSA-69601
G2/M Checkpoints	REACTOME	R-HSA-69481
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G1-G1/S phases	REACTOME	R-HSA-453279
G1/S Transition	REACTOME	R-HSA-69206
Cyclin E associated events during G1/S transition	REACTOME	R-HSA-69202
SCF(Skp2)-mediated degradation of p27/p21	REACTOME	R-HSA-187577
S Phase	REACTOME	R-HSA-69242
Cyclin A:Cdk2-associated events at S phase entry	REACTOME	R-HSA-69656
Synthesis of DNA	REACTOME	R-HSA-69239
Switching of origins to a post-replicative state	REACTOME	R-HSA-69052
Orc1 removal from chromatin	REACTOME	R-HSA-68949
CDK-mediated phosphorylation and removal of Cdc6	REACTOME	R-HSA-69017
Ubiquitin-dependent degradation of Cyclin D	REACTOME	R-HSA-75815
Ubiquitin-dependent degradation of Cyclin D1	REACTOME	R-HSA-69229
Regulation of DNA replication	REACTOME	R-HSA-69304
Removal of licensing factors from origins	REACTOME	R-HSA-69300
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
M Phase	REACTOME	R-HSA-68886
Mitotic Metaphase and Anaphase	REACTOME	R-HSA-2555396
Mitotic Anaphase	REACTOME	R-HSA-68882
Separation of Sister Chromatids	REACTOME	R-HSA-2467813
M/G1 Transition	REACTOME	R-HSA-68874
DNA Replication Pre-Initiation	REACTOME	R-HSA-69002
Assembly of the pre-replicative complex	REACTOME	R-HSA-68867
CDT1 association with the CDC6:ORC:origin complex	REACTOME	R-HSA-68827
Regulation of mitotic cell cycle	REACTOME	R-HSA-453276
APC/C-mediated degradation of cell cycle proteins	REACTOME	R-HSA-174143
Regulation of APC/C activators between G1/S and early anaphase	REACTOME	R-HSA-176408
SCF-beta-TrCP mediated degradation of Emi1	REACTOME	R-HSA-174113
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	REACTOME	R-HSA-176814
APC/C:Cdc20 mediated degradation of mitotic proteins	REACTOME	R-HSA-176409
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	REACTOME	R-HSA-179419
Cdc20:Phospho-APC/C mediated degradation of Cyclin A	REACTOME	R-HSA-174184
APC/C:Cdc20 mediated degradation of Securin	REACTOME	R-HSA-174154
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1	REACTOME	R-HSA-174178
Autodegradation of Cdh1 by Cdh1:APC/C	REACTOME	R-HSA-174084
DNA Replication	REACTOME	R-HSA-69306
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Metabolism of polyamines	REACTOME	R-HSA-351202
Regulation of ornithine decarboxylase (ODC)	REACTOME	R-HSA-350562
Programmed Cell Death	REACTOME	R-HSA-5357801
Apoptosis	REACTOME	R-HSA-109581
Regulation of Apoptosis	REACTOME	R-HSA-169911
Regulation of activated PAK-2p34 by proteasome mediated degradation	REACTOME	R-HSA-211733
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to hypoxia	REACTOME	R-HSA-2262749
Regulation of Hypoxia-inducible Factor (HIF) by oxygen	REACTOME	R-HSA-1234174
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	REACTOME	R-HSA-1234176
The role of GTSE1 in G2/M progression after G2 checkpoint	REACTOME	R-HSA-8852276
Deubiquitination	REACTOME	R-HSA-5688426
UCH proteinases	REACTOME	R-HSA-5689603
Ub-specific processing proteases	REACTOME	R-HSA-5689880
RET signaling	REACTOME	R-HSA-8853659
Neutrophil degranulation	REACTOME	R-HSA-6798695
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis	REACTOME	R-HSA-8854050

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38243044	2024	PSMD12 promotes non-small cell lung cancer progression through activating the Nrf2/TrxR1 pathway.	0
38243044	2024	PSMD12 promotes non-small cell lung cancer progression through activating the Nrf2/TrxR1 pathway.	0
37037907	2023	PSMD12 interacts with CDKN3 and facilitates pancreatic cancer progression.	2
37037907	2023	PSMD12 interacts with CDKN3 and facilitates pancreatic cancer progression.	2
35080150	2022	Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.	11
36137220	2022	PSMD12 promotes the activation of the MEK-ERK pathway by upregulating KIF15 to promote the malignant progression of liver cancer.	3
35080150	2022	Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.	11
36137220	2022	PSMD12 promotes the activation of the MEK-ERK pathway by upregulating KIF15 to promote the malignant progression of liver cancer.	3
32222279	2020	PSMD12 promotes breast cancer growth via inhibiting the expression of pro-apoptotic genes.	11
32222279	2020	PSMD12 promotes breast cancer growth via inhibiting the expression of pro-apoptotic genes.	11
30421579	2018	PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.	17
30421579	2018	PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.	17
28132691	2017	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.	48
28132691	2017	De 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/psmd12-(proteasome-26s-subunit-non-atpase-12)

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