Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	5702
Gene name	Proteasome 26S subunit, ATPase 3
Gene symbol	PSMC3
Synonyms (NCBI Gene)	DCIDPRPT5TBP1
Chromosome	11
Chromosome location	11p11.2
Summary	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits a

SNP ID	Visualize variation	Clinical significance	Consequence
rs1177898071	T>C,G	Pathogenic	Intron variant

miRTarBase ID	miRNA	Experiments	Reference
MIRT050417	hsa-miR-23a-3p	CLASH	23622248
MIRT049107	hsa-miR-92a-3p	CLASH	23622248
MIRT049107	hsa-miR-92a-3p	CLASH	23622248
MIRT048151	hsa-miR-196a-5p	CLASH	23622248

33 Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000502	Component	Proteasome complex	IDA	9464850, 17323924
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0000932	Component	P-body	IEA
GO:0000932	Component	P-body	ISS
GO:0001824	Process	Blastocyst development	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 16763564, 16990800, 19490896, 24255178, 25416956, 27342858, 28514442, 29636472, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	2194290
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0036402	Function	Proteasome-activating activity	IBA
GO:0036402	Function	Proteasome-activating activity	ISS	1429620
GO:0036402	Function	Proteasome-activating activity	TAS	9464850
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0043921	Process	Host-mediated perturbation of viral transcription	IDA	2194290, 8419915
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19853614
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IC	9464850
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
186852	9549	ENSG00000165916

P17980

Protein name

26S proteasome regulatory subunit 6A (26S proteasome AAA-ATPase subunit RPT5) (Proteasome 26S subunit ATPase 3) (Proteasome subunit P50) (Tat-binding protein 1) (TBP-1)

Protein function

Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which

PDB

5GJQ , 5GJR , 5L4G , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHJ , 5VHM , 5VHN , 5VHO , 5VHP , 5VHQ , 5VHR , 5VHS , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	223 → 356	ATPase family associated with various cellular activities (AAA)	Domain
PF16450	Prot_ATP_ID_OB	90 → 165	Proteasomal ATPase OB C-terminal domain	Domain
PF17862	AAA_lid_3	378 → 422	AAA+ lid domain	Domain

Sequence

MNLLPNIESPVTRQEKMATVWDEAEQDGIGEEVLKMSTEEIIQRTRLLDSEIKIMKSEVL
RVTHELQAMKDKIKENSEKIKVNKTLPYLVSNVIELLDVDPNDQEEDGANIDLDSQRKGK
CAVIKTSTRQTYFLPVIGLVDAEKLKPGDLVGVNKDSYLILETLPTEYDSRVKAMEVDER
PTEQYSDIGGLDKQIQELVEAIVLPMNHKEKFENLGIQPPKGVLMYGPPGTGKTLLARAC
AAQTKATFLKLAGPQLVQMFIGDGAKLVRDAFALAKEKAPSIIFIDELDAIGTKRFDSEK
AGDREVQRTMLELLNQLDGFQPNTQVKVIAATNRVDILDPALLRSGRLDRKIEFPMPNEE
ARARIMQIHSRKMNVSPDVNYEELARCTDDFNGAQCKAVCVEAGMIALRRGATELTHEDY
MEGILEVQAKKKANLQYYA

Sequence length

439

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Proteasome	Activation of NF-kappaB in B cells
Alzheimer disease	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Parkinson disease	Cross-presentation of soluble exogenous antigens (endosomes)
Amyotrophic lateral sclerosis	Autodegradation of Cdh1 by Cdh1:APC/C
Huntington disease	SCF-beta-TrCP mediated degradation of Emi1
Spinocerebellar ataxia	APC/C:Cdc20 mediated degradation of Securin
Prion disease	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Pathways of neurodegeneration - multiple diseases	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Epstein-Barr virus infection	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
	Neutrophil degranulation
	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deafness, cataract, impaired intellectual development, and polyneuropathy	Pathogenic	rs1177898071	RCV001450093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs1177898071	RCV000768461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs1177898071	RCV000768461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe sensorineural hearing impairment	Pathogenic	rs1177898071	RCV000768461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (17)
ALZHEIMER DISEASE	—	GWAS catalog	29777097, 37198259	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOMALOUS PULMONARY VEIN	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSPLASIA OF THE HIP	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	31879980	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	32332799	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	37256937	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	37256937	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	31420334, 35285134	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Breast Carcinoma	Breast Carcinoma	BEFREE	25590583, 30362169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34329194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12733146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B	Hepatitis b	Pubtator	35695579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30362169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32386284	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25590583, 30362169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30777076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30777076		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMC1	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	2	["GenCC (Neurodevelopmental disorder)","GWAS catalog (Neurodevelopmental disorder)"]
PSMC2	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC4	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC5	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC6	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]

PSMC3 (proteasome 26S subunit, ATPase 3)

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