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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	9861
Gene name	Proteasome 26S subunit, non-ATPase 6
Gene symbol	PSMD6
Synonyms (NCBI Gene)	Rpn7S10SGA-113Mp42Ap44S10
Chromosome	3
Chromosome location	3p14.1
Summary	This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing res

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024707	hsa-miR-215-5p	Microarray	19074876
MIRT026186	hsa-miR-192-5p	Microarray	19074876
MIRT046979	hsa-miR-219a-5p	CLASH	23622248
MIRT043296	hsa-miR-331-3p	CLASH	23622248
MIRT038175	hsa-miR-423-5p	CLASH	23622248
MIRT1270616	hsa-miR-1285	CLIP-seq
MIRT1270617	hsa-miR-3121-5p	CLIP-seq
MIRT1270618	hsa-miR-3163	CLIP-seq
MIRT1270619	hsa-miR-3187-5p	CLIP-seq
MIRT1270620	hsa-miR-3611	CLIP-seq
MIRT1270621	hsa-miR-3661	CLIP-seq
MIRT1270622	hsa-miR-3675-3p	CLIP-seq
MIRT1270623	hsa-miR-4289	CLIP-seq
MIRT1270624	hsa-miR-4422	CLIP-seq
MIRT1270625	hsa-miR-4509	CLIP-seq
MIRT1270626	hsa-miR-4666-5p	CLIP-seq
MIRT1270627	hsa-miR-4744	CLIP-seq
MIRT1270628	hsa-miR-4789-5p	CLIP-seq
MIRT1270629	hsa-miR-4802-3p	CLIP-seq
MIRT1270630	hsa-miR-500a	CLIP-seq
MIRT1270631	hsa-miR-501-5p	CLIP-seq
MIRT1270632	hsa-miR-548c-3p	CLIP-seq
MIRT1270633	hsa-miR-612	CLIP-seq
MIRT1270634	hsa-miR-631	CLIP-seq
MIRT1270635	hsa-miR-944	CLIP-seq
MIRT1270616	hsa-miR-1285	CLIP-seq
MIRT1270618	hsa-miR-3163	CLIP-seq
MIRT1270619	hsa-miR-3187-5p	CLIP-seq
MIRT1270620	hsa-miR-3611	CLIP-seq
MIRT1270621	hsa-miR-3661	CLIP-seq
MIRT1270622	hsa-miR-3675-3p	CLIP-seq
MIRT1270623	hsa-miR-4289	CLIP-seq
MIRT1270628	hsa-miR-4789-5p	CLIP-seq
MIRT1270632	hsa-miR-548c-3p	CLIP-seq
MIRT1270633	hsa-miR-612	CLIP-seq
MIRT1270634	hsa-miR-631	CLIP-seq
MIRT1270635	hsa-miR-944	CLIP-seq
MIRT1270621	hsa-miR-3661	CLIP-seq
MIRT1270628	hsa-miR-4789-5p	CLIP-seq
MIRT1270634	hsa-miR-631	CLIP-seq

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Transcription factor	Regulation	Reference
BRCA2	Unknown	17563742

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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:0005515	Function	Protein binding	IPI	16990800, 25416956, 32296183, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IBA
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
617857	9564	ENSG00000163636

Q15008

Protein name

26S proteasome non-ATPase regulatory subunit 6 (26S proteasome regulatory subunit RPN7) (26S proteasome regulatory subunit S10) (Breast cancer-associated protein SGA-113M) (Phosphonoformate immuno-associated protein 4) (Proteasome regulatory particle subu

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 , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6MSB , 6MSD , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M , 8CVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10602	RPN7	66 → 239	26S proteasome subunit RPN7	Family
PF01399	PCI	254 → 358	PCI domain	Domain

Sequence

MPLENLEEEGLPKNPDLRIAQLRFLLSLPEHRGDAAVRDELMAAVRDNNMAPYYEALCKS
LDWQIDVDLLNKMKKANEDELKRLDEELEDAEKNLGESEIRDAMMAKAEYLCRIGDKEGA
LTAFRKTYDKTVALGHRLDIVFYLLRIGLFYMDNDLITRNTEKAKSLIEEGGDWDRRNRL
KVYQGLYCVAIRDFKQAAELFLDTVSTFTSYELMDYKTFVTYTVYVSMIALERPDLREKV
IKGAEILEVLHSLPAVRQYLFSLYECRYSVFFQSLAVVEQEMKKDWLFAPHYRYYVREMR
IHAYSQLLESYRSLTLGYMAEAFGVGVEFIDQELSRFIAAGRLHCKIDKVNEIVETNRPD
SKNWQYQETIKKGDLLLNRVQKLSRVINM

Sequence length

389

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 Unknown Diseases (12)

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.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	BEFREE	28218057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33525943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10723133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	31305436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25273842, 26024304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	22158537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26024304, 31145772		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26818947, 30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	29852216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29852216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMD6 (proteasome 26S subunit, non-ATPase 6)