Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5684
Gene name Gene Name - the full gene name approved by the HGNC.	Proteasome 20S subunit alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PSMA3
Synonyms (NCBI Gene) Gene synonyms aliases	HC8, PSC3
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555352516	T>C	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050117	hsa-miR-26a-5p	CLASH	23622248
MIRT044295	hsa-miR-106b-5p	CLASH	23622248
MIRT043928	hsa-miR-378a-3p	CLASH	23622248
MIRT042723	hsa-miR-346	CLASH	23622248
MIRT054213	hsa-miR-147a	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269985	hsa-miR-1287	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269989	hsa-miR-3135b	CLIP-seq
MIRT1269990	hsa-miR-338-5p	CLIP-seq
MIRT1269991	hsa-miR-3647-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269998	hsa-miR-4666-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269985	hsa-miR-1287	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269989	hsa-miR-3135b	CLIP-seq
MIRT1269990	hsa-miR-338-5p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269998	hsa-miR-4666-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq

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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, 26524591
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:0004175	Function	Endopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11146632, 12376572, 12826010, 14733938, 15225636, 16169070, 17948026, 19208651, 21516116, 21900206, 21988832, 22659184, 24722188, 25416956, 25599644, 25910212, 26871637, 29568061, 29636472, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IBA	21873635
GO:0005839	Component	Proteasome core complex	IDA	19208651
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016032	Process	Viral process	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA	21873635
GO:0019773	Component	Proteasome core complex, alpha-subunit 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:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	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:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0045202	Component	Synapse	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0052548	Process	Regulation of endopeptidase activity	IMP	26524591
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, 20458337
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

MIM	HGNC	e!Ensembl
176843	9532	ENSG00000100567

Protein

UniProt ID

P25788

Protein name

Proteasome subunit alpha type-3 (Macropain subunit C8) (Multicatalytic endopeptidase complex subunit C8) (Proteasome component C8) (Proteasome subunit alpha-7) (alpha-7)

Protein function

Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with

PDB

4R3O , 4R67 , 5A0Q , 5DSV , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7E55 , 7LXV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10584	Proteasome_A_N	8 → 30	Proteasome subunit A N-terminal signature	Family
PF00227	Proteasome	31 → 217	Proteasome subunit	Domain

Sequence

MSSIGTGYDLSASTFSPDGRVFQVEYAMKAVENSSTAIGIRCKDGVVFGVEKLVLSKLYE
EGSNKRLFNVDRHVGMAVAGLLADARSLADIAREEASNFRSNFGYNIPLKHLADRVAMYV
HAYTLYSAVRPFGCSFMLGSYSVNDGAQLYMIDPSGVSYGYWGCAIGKARQAAKTEIEKL
QMKEMTCRDIVKEVAKIIYIVHDEVKDKAFELELSWVGELTNGRHEIVPKDIREEAEKYA
KESLKEEDESDDDNM

Sequence length

255

Interactions

View interactions

	KEGG		Reactome
	Proteasome Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases		Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK-->noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Interleukin-1 signaling Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Proteasome-associated autoinflammatory syndrome, digenic	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	rs1555353410, rs1555352516, rs748082671

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Myocardial Infarction	Myocardial Infarction	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	38203269
Alzheimer Disease	Associate	36405716
Arthritis	Associate	24875235
Arthritis Juvenile	Associate	24875235, 30940621
Breast Neoplasms	Associate	28990063
Carcinoma Non Small Cell Lung	Associate	34610219
Cholangiocarcinoma	Stimulate	35022330, 36144640
Colorectal Neoplasms	Associate	33275226
Esophageal Neoplasms	Associate	32005028
Esophageal Squamous Cell Carcinoma	Associate	32005028, 34755333
Glioma	Stimulate	34294084
Inflammation	Stimulate	34516337
Inflammation	Associate	34755333
Leukemia Myeloid Acute	Associate	37088992
Lung Neoplasms	Associate	34610219
Myopathy with Lactic Acidosis Hereditary	Associate	35178454
Neoplasm Metastasis	Associate	34720049
Neoplasms	Associate	34294084, 35022330, 35178454, 37088992
Neoplasms Squamous Cell	Associate	34755333
Obesity	Associate	24455213
Ossification Heterotopic	Associate	33391181
Pancreatic Neoplasms	Inhibit	34755333
Sjogren's Syndrome	Stimulate	34284720
Squamous Cell Carcinoma of Head and Neck	Associate	34457087
Stomach Neoplasms	Stimulate	27966459
Tertiary Lymphoid Structures	Stimulate	35022330
Thyroiditis	Associate	28390009
Urinary Bladder Neoplasms	Associate	34720049, 35669725

PSMA3 (proteasome 20S subunit alpha 3)