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

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

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)

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:

Proteasome
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Epstein-Barr virus infection

Reactome:

Activation of NF-kappaB in B cells
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Cross-presentation of soluble exogenous antigens (endosomes)
Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
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
Phenotype Name	Clinical Significance	Source	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	★★☆☆☆ 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
Disease Name	Relationship Type	References	Evidence Score
Acquired Immunodeficiency Syndrome	Associate	25330014	★☆☆☆☆ Found in Text Mining only
Azoospermia	Associate	34738918	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Associate	31405953	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Stimulate	34839279	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	31703613, 36524514	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	12950147	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	12950147	★☆☆☆☆ Found in Text Mining only
Disease	Associate	31405953	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Associate	23493000	★☆☆☆☆ Found in Text Mining only
Gastritis	Associate	23493000	★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	19008943, 25330014, 33314121, 36042218	★☆☆☆☆ Found in Text Mining only
Infections	Associate	25330014	★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	34572038, 36498916	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	15886300	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	24286321	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Associate	22480845	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15886300, 31703613, 34572038, 36498916, 38104103	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Associate	38104103	★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	24944161	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	36713400	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	38104103	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	23493000	★☆☆☆☆ Found in Text Mining only
Stomach Ulcer	Associate	23493000	★☆☆☆☆ Found in Text Mining only