PSMC5 (proteasome 26S subunit, ATPase 5)

Gene

• Entrez ID: 5705
• Gene name: Proteasome 26S subunit, ATPase 5
• Gene symbol: PSMC5
• Synonyms (NCBI Gene): RPT6, S8, SUG-1, SUG1, TBP10, TRIP1, p45, p45/SUG
• Chromosome: 17
• Chromosome location: 17q23.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043146	hsa-miR-324-5p	CLASH	23622248
MIRT041740	hsa-miR-484	CLASH	23622248
MIRT041377	hsa-miR-193b-3p	CLASH	23622248
MIRT036390	hsa-miR-1229-3p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Activation	22771340
CREBBP	Activation	22771340

Gene ontology (GO)

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:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	9173976, 9927201, 16189514, 16763564, 16990800, 17693435, 18330356, 19490896, 20178748, 21516116, 22078707, 22901813, 23032291, 23824326, 25416956, 26030138, 26496610, 27342858, 28514442, 29636472, 29892012, 31515488, 32296183, 32814053, 33961781, 35271311, 38225382
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	9927201
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9927201
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	7870181
GO:0008134	Function	Transcription factor binding	IDA	7870181
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016234	Component	Inclusion body	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017025	Function	TBP-class protein binding	IEA
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0031410	Component	Cytoplasmic vesicle	IDA	15885686
GO:0031531	Function	Thyrotropin-releasing hormone receptor binding	IPI	7870181
GO:0031595	Component	Nuclear proteasome complex	IEA
GO:0031597	Component	Cytosolic proteasome complex	IEA
GO:0036402	Function	Proteasome-activating activity	IBA
GO:0036402	Function	Proteasome-activating activity	ISS	1429620
GO:0036402	Function	Proteasome-activating activity	TAS	9464850
GO:0043069	Process	Negative regulation of programmed cell death	NAS	16432160
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	12110588
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	7870181
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090261	Process	Positive regulation of inclusion body assembly	IEA
GO:0140296	Function	General transcription initiation factor binding	IPI	9173976
GO:0140297	Function	DNA-binding transcription factor binding	IPI	10816420
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IC	9464850

Other IDs

• MIM: 601681
• HGNC: 9552
• e!Ensembl: ENSG00000087191

Protein

• UniProt ID: P62195
• Protein name: 26S proteasome regulatory subunit 8 (26S proteasome AAA-ATPase subunit RPT6) (Proteasome 26S subunit ATPase 5) (Proteasome subunit p45) (Thyroid hormone receptor-interacting protein 1) (TRIP1) (p45/SUG)
• 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: 2KRK, 3KW6, 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, 6MSG, 6MSH, 6MSJ, 6MSK, 6WJD, 6WJN, 7QXN, 7QXP, 7QXU, 7QXW, 7QXX, 7QY7, 7QYA, 7QYB, 7W37, 7W38, 7W39, 7W3A, 7W3B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16450	Prot_ATP_ID_OB	73 → 128	Proteasomal ATPase OB C-terminal domain	Domain
  PF00004	AAA	186 → 319	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	341 → 385	AAA+ lid domain	Domain

• Sequence:

  MALDGPEQMELEEGKAGSGLRQYYLSKIEELQLIVNDKSQNLRRLQAQRNELNAKVRLLR
  EELQLLQEQGSYVGEVVRAMDKKKVLVKVHPEGKFVVDVDKNIDINDVTPNCRVALRNDS
  YTLHKILPNKVDPLVSLMMVEKVPDSTYEMIGGLDKQIKEIKEVIELPVKHPELFEALGI
  AQPKGVLLYGPPGTGKTLLARAVAHHTDCTFIRVSGSELVQKFIGEGARMVRELFVMARE
  HAPSIIFMDEIDSIGSSRLEGGSGGDSEVQRTMLELLNQLDGFEATKNIKVIMATNRIDI
  LDSALLRPGRIDRKIEFPPPNEEARLDILKIHSRKMNLTRGINLRKIAELMPGASGAEVK
  GVCTEAGMYALRERRVHVTQEDFEMAVAKVMQKDSEKNMSIKKLWK

• Sequence length: 406

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	12894591		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18783480		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18783480		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34329194	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32207560	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30177877		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	9211568		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	7729537	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	9211568		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26592665	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10589759		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9169003		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30177877		★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12894591		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10094499, 9169003		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10094499	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	9169003		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26842750	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29476075		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	34004362	Associate	★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only