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

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	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
Gastritis	Gastritis	Pubtator	23493000	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31703613		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15886300	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24286321	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28992264		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31413756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30285878		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22480845	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16737963		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	38104103	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	38104103	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31413756		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23493000	Associate	★☆☆☆☆ Found in Text Mining only