PSMD1 (proteasome 26S subunit, non-ATPase 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5707
• Gene name: Proteasome 26S subunit, non-ATPase 1
• Gene symbol: PSMD1
• Synonyms (NCBI Gene): P112, Rpn2, S1
• Chromosome: 2
• Chromosome location: 2q37.1
• 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 Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030387	hsa-miR-24-3p	Microarray	19748357
MIRT045451	hsa-miR-149-5p	CLASH	23622248
MIRT043445	hsa-miR-331-3p	CLASH	23622248
MIRT042702	hsa-miR-346	CLASH	23622248
MIRT042491	hsa-miR-423-3p	CLASH	23622248
MIRT035921	hsa-miR-1180-3p	CLASH	23622248
MIRT666801	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT666800	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT666799	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT666798	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT666797	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT666796	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT666795	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT666794	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT666793	hsa-miR-6131	HITS-CLIP	23824327
MIRT666792	hsa-miR-4284	HITS-CLIP	23824327
MIRT030387	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT666791	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT666790	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT666789	hsa-miR-8057	HITS-CLIP	23824327
MIRT666788	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT666787	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666786	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT666801	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT666800	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT666799	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT666798	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT666797	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT666796	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT666795	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT666794	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT666793	hsa-miR-6131	HITS-CLIP	23824327
MIRT666792	hsa-miR-4284	HITS-CLIP	23824327
MIRT030387	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT666791	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT666790	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT666789	hsa-miR-8057	HITS-CLIP	23824327
MIRT666788	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT666787	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666786	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT2079492	hsa-miR-4517	CLIP-seq
MIRT2305775	hsa-miR-1179	CLIP-seq
MIRT2305776	hsa-miR-1254	CLIP-seq
MIRT2305777	hsa-miR-3116	CLIP-seq
MIRT2305778	hsa-miR-3690	CLIP-seq
MIRT2305779	hsa-miR-3942-3p	CLIP-seq
MIRT2079492	hsa-miR-4517	CLIP-seq
MIRT2305780	hsa-miR-4638-3p	CLIP-seq
MIRT2305781	hsa-miR-4778-3p	CLIP-seq
MIRT2305782	hsa-miR-556-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924
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	16990800, 18497817, 18497827, 29804830, 31064842, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	TAS	8816993
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0034515	Component	Proteasome storage granule	IBA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042176	Process	Regulation of protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727

Other IDs

• MIM: 617842
• HGNC: 9554
• e!Ensembl: ENSG00000173692

Protein

• UniProt ID: Q99460
• Protein name: 26S proteasome non-ATPase regulatory subunit 1 (26S proteasome regulatory subunit RPN2) (26S proteasome regulatory subunit S1) (26S proteasome subunit p112)
• 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 , 5L4K , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5V1Y , 5V1Z , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6CO4 , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6OI4 , 6UYI , 6UYJ , 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
  PF01851	PC_rep	441 → 474	Proteasome/cyclosome repeat	Repeat
  PF01851	PC_rep	476 → 510	Proteasome/cyclosome repeat	Repeat
  PF01851	PC_rep	511 → 545	Proteasome/cyclosome repeat	Repeat
  PF13646	HEAT_2	599 → 692		Family
  PF18004	RPN2_C	786 → 925	26S proteasome regulatory subunit RPN2 C-terminal domain	Domain

• Sequence:

  MITSAAGIISLLDEDEPQLKEFALHKLNAVVNDFWAEISESVDKIEVLYEDEGFRSRQFA
  ALVASKVFYHLGAFEESLNYALGAGDLFNVNDNSEYVETIIAKCIDHYTKQCVENADLPE
  GEKKPIDQRLEGIVNKMFQRCLDDHKYKQAIGIALETRRLDVFEKTILESNDVPGMLAYS
  LKLCMSLMQNKQFRNKVLRVLVKIYMNLEKPDFINVCQCLIFLDDPQAVSDILEKLVKED
  NLLMAYQICFDLYESASQQFLSSVIQNLRTVGTPIASVPGSTNTGTVPGSEKDSDSMETE
  EKTSSAFVGKTPEASPEPKDQTLKMIKILSGEMAIELHLQFLIRNNNTDLMILKNTKDAV
  RNSVCHTATVIANSFMHCGTTSDQFLRDNLEWLARATNWAKFTATASLGVIHKGHEKEAL
  QLMATYLPKDTSPGSAYQEGGGLYALGLIHANHGGDIIDYLLNQLKNASNDIVRHGGSLG
  LGLAAMGTARQDVYDLLKTNLYQDDAVTGEAAGLALGLVMLGSKNAQAIEDMVGYAQETQ
  HEKILRGLAVGIALVMYGRMEEADALIESLCRDKDPILRRSGMYTVAMAYCGSGNNKAIR
  RLLHVAVSDVNDDVRRAAVESLGFILFRTPEQCPSVVSLLSESYNPHVRYGAAMALGICC
  AGTGNKEAINLLEPMTNDPVNYVRQGALIASALIMIQQTEITCPKVNQFRQLYSKVINDK
  HDDVMAKFGAILAQGILDAGGHNVTISLQSRTGHTHMPSVVGVLVFTQFWFWFPLSHFLS
  LAYTPTCVIGLNKDLKMPKVQYKSNCKPSTFAYPAPLEVPKEKEKEKVSTAVLSITAKAK
  KKEKEKEKKEEEKMEVDEAEKKEEKEKKKEPEPNFQLLDNPARVMPAQLKVLTMPETCRY
  QPFKPLSIGGIIILKDTSEDIEELVEPVAAHGPKIEEEEQEPEPPEPFEYIDD

• Sequence length: 953

Pathways

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

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 Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	36324510	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (23)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	34738918	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	31405953	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30285878		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28992264		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34839279	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31703613, 36524514	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30285878		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	12950147	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	12950147	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	23493000	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PSMC2 55 shared pathwaysProteasome, 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 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC3 55 shared pathwaysProteasome, 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 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC4 55 shared pathwaysProteasome, 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 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC5 55 shared pathwaysProteasome, 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 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC6 55 shared pathwaysProteasome, 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 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMC2	0	[]	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	0	[]	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	0	[]	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	0	[]	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	0	[]	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	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesPSMC3, PSMC6 Neurodevelopmental disorder Linked via 2 of 5 related genesPSMC3, PSMC5 Hearing loss Linked via 1 of 5 related genesPSMC2 Diabetes mellitus type 2 Linked via 1 of 5 related genesPSMC2 Anomalous pulmonary venous Linked via 1 of 5 related genesPSMC3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["PSMC3","PSMC6"]
Neurodevelopmental disorder	2	["PSMC3","PSMC5"]
Hearing loss	1	["PSMC2"]
Diabetes mellitus type 2	1	["PSMC2"]
Anomalous pulmonary venous	1	["PSMC3"]