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

Gene Gene SNPs Other IDs 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

Show/Hide all(64)

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

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924, 26524591
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
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, 31473102, 31515488, 32296183, 32814053, 33961781, 34702852, 35271311, 35858375
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	19208651, 34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Proteasome-associated autoinflammatory syndrome, digenic	proteasome-associated autoinflammatory syndrome 1, digenic	rs1555353410, rs1555352516	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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)