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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5700
Gene name	Proteasome 26S subunit, ATPase 1
Gene symbol	PSMC1
Synonyms (NCBI Gene)	NEDGTHP26S4RPT2S4p56
Chromosome	14
Chromosome location	14q32.11
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028792	hsa-miR-26b-5p	Microarray	19088304
MIRT051203	hsa-miR-16-5p	CLASH	23622248
MIRT038229	hsa-miR-342-5p	CLASH	23622248
MIRT649822	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649821	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649820	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649819	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649818	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT649817	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT649816	hsa-miR-1200	HITS-CLIP	23824327
MIRT649815	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT649814	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT649813	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT649812	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT649822	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649821	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649820	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649819	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649818	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT649817	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT649816	hsa-miR-1200	HITS-CLIP	23824327
MIRT649815	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT649814	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT649813	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT649812	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT649822	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649821	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649820	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649819	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649818	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT649817	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT649816	hsa-miR-1200	HITS-CLIP	23824327
MIRT649815	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT649814	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT649813	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT649812	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT649822	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649821	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649820	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT649819	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT649818	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT649817	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT649816	hsa-miR-1200	HITS-CLIP	23824327
MIRT649815	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT649814	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT649813	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT649812	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT1270291	hsa-miR-1265	CLIP-seq
MIRT1270292	hsa-miR-1285	CLIP-seq
MIRT1270293	hsa-miR-1292	CLIP-seq
MIRT1270294	hsa-miR-2052	CLIP-seq
MIRT1270295	hsa-miR-2277-3p	CLIP-seq
MIRT1270296	hsa-miR-3145-5p	CLIP-seq
MIRT1270297	hsa-miR-3187-5p	CLIP-seq
MIRT1270298	hsa-miR-326	CLIP-seq
MIRT1270299	hsa-miR-330-5p	CLIP-seq
MIRT1270300	hsa-miR-378g	CLIP-seq
MIRT1270301	hsa-miR-3941	CLIP-seq
MIRT1270302	hsa-miR-4307	CLIP-seq
MIRT1270303	hsa-miR-4471	CLIP-seq
MIRT1270304	hsa-miR-4486	CLIP-seq
MIRT1270305	hsa-miR-4502	CLIP-seq
MIRT1270306	hsa-miR-4639-5p	CLIP-seq
MIRT1270307	hsa-miR-4643	CLIP-seq
MIRT1270308	hsa-miR-466	CLIP-seq
MIRT1270309	hsa-miR-4672	CLIP-seq
MIRT1270310	hsa-miR-4789-3p	CLIP-seq
MIRT1270311	hsa-miR-487b	CLIP-seq
MIRT1270312	hsa-miR-508-5p	CLIP-seq
MIRT1270313	hsa-miR-548c-3p	CLIP-seq
MIRT1270314	hsa-miR-612	CLIP-seq
MIRT1270292	hsa-miR-1285	CLIP-seq
MIRT1270294	hsa-miR-2052	CLIP-seq
MIRT1270296	hsa-miR-3145-5p	CLIP-seq
MIRT1270297	hsa-miR-3187-5p	CLIP-seq
MIRT1270298	hsa-miR-326	CLIP-seq
MIRT1270299	hsa-miR-330-5p	CLIP-seq
MIRT2079451	hsa-miR-361-3p	CLIP-seq
MIRT1270300	hsa-miR-378g	CLIP-seq
MIRT1270301	hsa-miR-3941	CLIP-seq
MIRT1270302	hsa-miR-4307	CLIP-seq
MIRT1270304	hsa-miR-4486	CLIP-seq
MIRT2079452	hsa-miR-4494	CLIP-seq
MIRT1270307	hsa-miR-4643	CLIP-seq
MIRT1270308	hsa-miR-466	CLIP-seq
MIRT1270309	hsa-miR-4672	CLIP-seq
MIRT2079453	hsa-miR-4771	CLIP-seq
MIRT1270310	hsa-miR-4789-3p	CLIP-seq
MIRT1270311	hsa-miR-487b	CLIP-seq
MIRT1270312	hsa-miR-508-5p	CLIP-seq
MIRT1270314	hsa-miR-612	CLIP-seq
MIRT1270291	hsa-miR-1265	CLIP-seq
MIRT1270292	hsa-miR-1285	CLIP-seq
MIRT1270293	hsa-miR-1292	CLIP-seq
MIRT2305757	hsa-miR-1972	CLIP-seq
MIRT1270294	hsa-miR-2052	CLIP-seq
MIRT1270296	hsa-miR-3145-5p	CLIP-seq
MIRT1270297	hsa-miR-3187-5p	CLIP-seq
MIRT1270298	hsa-miR-326	CLIP-seq
MIRT1270299	hsa-miR-330-5p	CLIP-seq
MIRT2079451	hsa-miR-361-3p	CLIP-seq
MIRT1270300	hsa-miR-378g	CLIP-seq
MIRT1270301	hsa-miR-3941	CLIP-seq
MIRT1270302	hsa-miR-4307	CLIP-seq
MIRT1270303	hsa-miR-4471	CLIP-seq
MIRT1270304	hsa-miR-4486	CLIP-seq
MIRT1270306	hsa-miR-4639-5p	CLIP-seq
MIRT1270307	hsa-miR-4643	CLIP-seq
MIRT1270308	hsa-miR-466	CLIP-seq
MIRT1270309	hsa-miR-4672	CLIP-seq
MIRT2305758	hsa-miR-4717-5p	CLIP-seq
MIRT1270310	hsa-miR-4789-3p	CLIP-seq
MIRT1270311	hsa-miR-487b	CLIP-seq
MIRT1270312	hsa-miR-508-5p	CLIP-seq
MIRT1270313	hsa-miR-548c-3p	CLIP-seq
MIRT1270314	hsa-miR-612	CLIP-seq
MIRT1270291	hsa-miR-1265	CLIP-seq
MIRT1270292	hsa-miR-1285	CLIP-seq
MIRT1270293	hsa-miR-1292	CLIP-seq
MIRT2602956	hsa-miR-150	CLIP-seq
MIRT2602957	hsa-miR-188-5p	CLIP-seq
MIRT2305757	hsa-miR-1972	CLIP-seq
MIRT2602958	hsa-miR-204	CLIP-seq
MIRT1270294	hsa-miR-2052	CLIP-seq
MIRT2602959	hsa-miR-211	CLIP-seq
MIRT1270295	hsa-miR-2277-3p	CLIP-seq
MIRT2602960	hsa-miR-3127-5p	CLIP-seq
MIRT1270296	hsa-miR-3145-5p	CLIP-seq
MIRT1270297	hsa-miR-3187-5p	CLIP-seq
MIRT1270298	hsa-miR-326	CLIP-seq
MIRT1270299	hsa-miR-330-5p	CLIP-seq
MIRT2079451	hsa-miR-361-3p	CLIP-seq
MIRT1270300	hsa-miR-378g	CLIP-seq
MIRT1270301	hsa-miR-3941	CLIP-seq
MIRT2602961	hsa-miR-4270	CLIP-seq
MIRT1270302	hsa-miR-4307	CLIP-seq
MIRT2602962	hsa-miR-4441	CLIP-seq
MIRT2602963	hsa-miR-4461	CLIP-seq
MIRT1270303	hsa-miR-4471	CLIP-seq
MIRT1270304	hsa-miR-4486	CLIP-seq
MIRT1270305	hsa-miR-4502	CLIP-seq
MIRT1270306	hsa-miR-4639-5p	CLIP-seq
MIRT1270307	hsa-miR-4643	CLIP-seq
MIRT1270308	hsa-miR-466	CLIP-seq
MIRT1270309	hsa-miR-4672	CLIP-seq
MIRT2305758	hsa-miR-4717-5p	CLIP-seq
MIRT1270310	hsa-miR-4789-3p	CLIP-seq
MIRT1270311	hsa-miR-487b	CLIP-seq
MIRT1270312	hsa-miR-508-5p	CLIP-seq
MIRT2602964	hsa-miR-539	CLIP-seq
MIRT1270313	hsa-miR-548c-3p	CLIP-seq
MIRT2602965	hsa-miR-580	CLIP-seq
MIRT1270314	hsa-miR-612	CLIP-seq
MIRT1270291	hsa-miR-1265	CLIP-seq
MIRT1270292	hsa-miR-1285	CLIP-seq
MIRT1270293	hsa-miR-1292	CLIP-seq
MIRT2602956	hsa-miR-150	CLIP-seq
MIRT2602957	hsa-miR-188-5p	CLIP-seq
MIRT2602958	hsa-miR-204	CLIP-seq
MIRT1270294	hsa-miR-2052	CLIP-seq
MIRT2602959	hsa-miR-211	CLIP-seq
MIRT1270295	hsa-miR-2277-3p	CLIP-seq
MIRT2602960	hsa-miR-3127-5p	CLIP-seq
MIRT1270296	hsa-miR-3145-5p	CLIP-seq
MIRT1270297	hsa-miR-3187-5p	CLIP-seq
MIRT1270298	hsa-miR-326	CLIP-seq
MIRT1270299	hsa-miR-330-5p	CLIP-seq
MIRT2079451	hsa-miR-361-3p	CLIP-seq
MIRT1270300	hsa-miR-378g	CLIP-seq
MIRT1270301	hsa-miR-3941	CLIP-seq
MIRT2602961	hsa-miR-4270	CLIP-seq
MIRT1270302	hsa-miR-4307	CLIP-seq
MIRT2602962	hsa-miR-4441	CLIP-seq
MIRT2602963	hsa-miR-4461	CLIP-seq
MIRT1270303	hsa-miR-4471	CLIP-seq
MIRT1270304	hsa-miR-4486	CLIP-seq
MIRT1270305	hsa-miR-4502	CLIP-seq
MIRT1270306	hsa-miR-4639-5p	CLIP-seq
MIRT1270307	hsa-miR-4643	CLIP-seq
MIRT1270308	hsa-miR-466	CLIP-seq
MIRT1270309	hsa-miR-4672	CLIP-seq
MIRT1270310	hsa-miR-4789-3p	CLIP-seq
MIRT1270311	hsa-miR-487b	CLIP-seq
MIRT1270312	hsa-miR-508-5p	CLIP-seq
MIRT2602964	hsa-miR-539	CLIP-seq
MIRT1270313	hsa-miR-548c-3p	CLIP-seq
MIRT2602965	hsa-miR-580	CLIP-seq
MIRT1270314	hsa-miR-612	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	8811196, 29636472
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	9452483, 16189514, 16990800, 19060904, 19490896, 22901813, 23455924, 25416956, 26496610, 27342858, 28514442, 29128334, 29636472, 31515488, 32296183, 32814053, 33961781, 35271311, 37776851
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IEA
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0036402	Function	Proteasome-activating activity	IBA
GO:0036402	Function	Proteasome-activating activity	ISS	1429620
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IEA

MIM	HGNC	e!Ensembl
602706	9547	ENSG00000100764

P62191

Protein name

26S proteasome regulatory subunit 4 (P26s4) (26S proteasome AAA-ATPase subunit RPT2) (Proteasome 26S subunit ATPase 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 , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16450	Prot_ATP_ID_OB	109 → 163	Proteasomal ATPase OB C-terminal domain	Domain
PF00004	AAA	222 → 355	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	377 → 421	AAA+ lid domain	Domain

Sequence

MGQSQSGGHGPGGGKKDDKDKKKKYEPPVPTRVGKKKKKTKGPDAASKLPLVTPHTQCRL
KLLKLERIKDYLLMEEEFIRNQEQMKPLEEKQEEERSKVDDLRGTPMSVGTLEEIIDDNH
AIVSTSVGSEHYVSILSFVDKDLLEPGCSVLLNHKVHAVIGVLMDDTDPLVTVMKVEKAP
QETYADIGGLDNQIQEIKESVELPLTHPEYYEEMGIKPPKGVILYGPPGTGKTLLAKAVA
NQTSATFLRVVGSELIQKYLGDGPKLVRELFRVAEEHAPSIVFIDEIDAIGTKRYDSNSG
GEREIQRTMLELLNQLDGFDSRGDVKVIMATNRIETLDPALIRPGRIDRKIEFPLPDEKT
KKRIFQIHTSRMTLADDVTLDDLIMAKDDLSGADIKAICTEAGLMALRERRMKVTNEDFK
KSKENVLYKKQEGTPEGLYL

Sequence length

440

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	Pathogenic	rs2503963172	RCV002291329	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIRK-AHARONI SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	28984787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	36639418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19147735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19147735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30651846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34329194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11765912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30890645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30890645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30651846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	20484596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	18701681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22948515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22509301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	34612770	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31270158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38073378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMC1 (proteasome 26S subunit, ATPase 1)