PSMA6 (proteasome 20S subunit alpha 6)

2011-02-01  

Identity

HGNC
LOCATION
14q13.2
LOCUSID
ALIAS
IOTA,PROS27,p27K
FUSION GENES

Other Information

Locus ID:

NCBI: 5687
MIM: 602855
HGNC: 9535
Ensembl: ENSG00000100902

Variants:

dbSNP: 5687
ClinVar: 5687
TCGA: ENSG00000100902
COSMIC: PSMA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100902ENST00000261479P60900
ENSG00000100902ENST00000261479A0A140VK44
ENSG00000100902ENST00000540871P60900
ENSG00000100902ENST00000553688G3V2S7
ENSG00000100902ENST00000553809G3V5Z7
ENSG00000100902ENST00000554541G3V4S5
ENSG00000100902ENST00000554620G3V3U4
ENSG00000100902ENST00000554961G3V3I1
ENSG00000100902ENST00000555764P60900
ENSG00000100902ENST00000556221H0YJC4
ENSG00000100902ENST00000556506G3V295
ENSG00000100902ENST00000622405P60900
ENSG00000100902ENST00000627895G3V3U4
ENSG00000100902ENST00000628955G3V2S7

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
ProteasomeKEGGko03050
ProteasomeKEGGhsa03050
ImmunoproteasomeKEGGhsa_M00337
Proteasome, 20S core particleKEGGhsa_M00340
ImmunoproteasomeKEGGM00337
Proteasome, 20S core particleKEGGM00340
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
FBXL7 down-regulates AURKA during mitotic entry and in early mitosisREACTOMER-HSA-8854050

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
209531892010Genome-wide association analysis identifies three psoriasis susceptibility loci.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
193364752009Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.27
181577112009Association between inflammatory gene polymorphisms and coronary artery disease in an Indian population.19
181581102008Inflammatory system gene polymorphism and the risk of stroke: a case-control study in an Indian population.19
168453972006A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population.18
266576882015Disassembly of the self-assembled, double-ring structure of proteasome α7 homo-tetradecamer by α6.17
228822722013Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
183584792008The -8 UTR C/G polymorphism of PSMA6 gene is associated with susceptibility to myocardial infarction in type 2 diabetic patients.10

Citation

Dessen P

PSMA6 (proteasome 20S subunit alpha 6)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52053/psma6