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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5707
Gene name Gene Name - the full gene name approved by the HGNC.	Proteasome 26S subunit, non-ATPase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PSMD1
Synonyms (NCBI Gene) Gene synonyms aliases	P112, Rpn2, S1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.	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
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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0004175	Function	Endopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16990800, 29804830, 31064842
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	TAS	8816993
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016579	Process	Protein deubiquitination	TAS
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0034515	Component	Proteasome storage granule	IBA	21873635
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042176	Process	Regulation of protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0055085	Process	Transmembrane transport	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	TAS
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS

MIM	HGNC	e!Ensembl
617842	9554	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
Acquired Immunodeficiency Syndrome	Associate	25330014
Azoospermia	Associate	34738918
Behcet Syndrome	Associate	31405953
Breast Neoplasms	Stimulate	34839279
Carcinoma Hepatocellular	Associate	31703613, 36524514
Diabetes Mellitus Type 1	Associate	12950147
Diabetes Mellitus Type 2	Associate	12950147
Disease	Associate	31405953
Duodenal Ulcer	Associate	23493000
Gastritis	Associate	23493000
HIV Infections	Associate	19008943, 25330014, 33314121, 36042218
Infections	Associate	25330014
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	34572038, 36498916
Lung Neoplasms	Associate	15886300
Macular Degeneration	Associate	24286321
Metabolic Syndrome	Associate	22480845
Neoplasms	Associate	15886300, 31703613, 34572038, 36498916, 38104103
Oropharyngeal Neoplasms	Associate	38104103
Pre Eclampsia	Associate	24944161
Renal Insufficiency	Associate	36713400
Squamous Cell Carcinoma of Head and Neck	Associate	38104103
Stomach Neoplasms	Associate	23493000
Stomach Ulcer	Associate	23493000

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