• Gene id: 9861

Gene Summary

• Gene Symbol: PSMD6   Gene   UCSC   Ensembl
• Aliases: Rpn7, S10, SGA-113M, p42A, p44S10
• Gene name: proteasome 26S subunit, non-ATPase 6
• Alternate names: 26S proteasome non-ATPase regulatory subunit 6, breast cancer-associated protein SGA-113M, phosphonoformate immuno-associated protein 4, proteasome (prosome, macropain) 26S subunit, non-ATPase, 6, proteasome regulatory particle subunit p44S10,
• Gene location: 3p14.1 (64024009: 64010548)     Exons: 11     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 617857

SNPs

rs2976084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: Q15008  
  • 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
  • Length: 389  
  • Mass: 45531
• Sequence:

  MPLENLEEEGLPKNPDLRIAQLRFLLSLPEHRGDAAVRDELMAAVRDNNMAPYYEALCKSLDWQIDVDLLNKMKK
  ANEDELKRLDEELEDAEKNLGESEIRDAMMAKAEYLCRIGDKEGALTAFRKTYDKTVALGHRLDIVFYLLRIGLF
  YMDNDLITRNTEKAKSLIEEGGDWDRRNRLKVYQGLYCVAIRDFKQAAELFLDTVSTFTSYELMDYKTFVTYTVY
  VSMIALERPDLREKVIKGAEILEVLHSLPAVRQYLFSLYECRYSVFFQSLAVVEQEMKKDWLFAPHYRYYVREMR
  IHAYSQLLESYRSLTLGYMAEAFGVGVEFIDQELSRFIAAGRLHCKIDKVNEIVETNRPDSKNWQYQETIKKGDL
  LLNRVQKLSRVINM

• Structural information:
  • Protein Domains: (193..36-)
    (/note="PCI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01185"-)
  • Interpro: IPR000717  IPR035268  IPR019585  IPR011990  IPR036390  
  • Prosite: PS50250
  • 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
  • PDBsum: 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
  • DIP: 27590
• Other Databases: GeneCards:  PSMD6  Malacards:  PSMD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005838	proteasome regulatory particle	IBA	cellular component
GO:0022624	proteasome accessory complex	ISS	cellular component
GO:0030234	enzyme regulator activity	IEA	molecular function
GO:0000502	proteasome complex	IEA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0002223	stimulatory C-type lectin receptor signaling pathway	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006521	regulation of cellular amino acid metabolic process	TAS	biological process
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0038061	NIK/NF-kappaB signaling	TAS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:1901990	regulation of mitotic cell cycle phase transition	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0022624	proteasome accessory complex	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0000502	proteasome complex	IDA	cellular component
GO:0016887	ATPase activity	NAS	molecular function
GO:0006508	proteolysis	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05169	Epstein-Barr virus infection
hsa05017	Spinocerebellar ataxia
hsa03050	Proteasome

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)