• Gene id: 5704

Gene Summary

• Gene Symbol: PSMC4   Gene   UCSC   Ensembl
• Aliases: MIP224, RPT3, S6, TBP-7, TBP7
• Gene name: proteasome 26S subunit, ATPase 4
• Alternate names: 26S proteasome regulatory subunit 6B, 26S protease regulatory subunit 6B, 26S proteasome AAA-ATPase subunit RPT3, MB67-interacting protein, Tat-binding protein 7, protease 26S subunit 6, proteasome (prosome, macropain) 26S subunit, ATPase, 4,
• Gene location: 19q13.2 (39971004: 39981763)     Exons: 11     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 602707

SNPs

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

Protein Summary

• Protein general information: P43686  
  • Name: 26S proteasome regulatory subunit 6B (26S proteasome AAA ATPase subunit RPT3) (MB67 interacting protein) (MIP224) (Proteasome 26S subunit ATPase 4) (Tat binding protein 7) (TBP 7)
  • Length: 418  
  • Mass: 47366
• Sequence:

  MEEIGILVEKAQDEIPALSVSRPQTGLSFLGPEPEDLEDLYSRYKKLQQELEFLEVQEEYIKDEQKNLKKEFLHA
  QEEVKRIQSIPLVIGQFLEAVDQNTAIVGSTTGSNYYVRILSTIDRELLKPNASVALHKHSNALVDVLPPEADSS
  IMMLTSDQKPDVMYADIGGMDIQKQEVREAVELPLTHFELYKQIGIDPPRGVLMYGPPGCGKTMLAKAVAHHTTA
  AFIRVVGSEFVQKYLGEGPRMVRDVFRLAKENAPAIIFIDEIDAIATKRFDAQTGADREVQRILLELLNQMDGFD
  QNVNVKVIMATNRADTLDPALLRPGRLDRKIEFPLPDRRQKRLIFSTITSKMNLSEEVDLEDYVARPDKISGADI
  NSICQESGMLAVRENRYIVLAKDFEKAYKTVIKKDEQEHEFYK

• Structural information:
  • Interpro: IPR005937  IPR003593  IPR041569  IPR003959  IPR003960   IPR027417  IPR032501  IPR035256  
  • Prosite: PS00674
  • PDB: 2DVW 5GJQ 5GJR 5L4G 5LN3 5M32 5T0C 5T0G 5T0H 5T0I 5T0J 5VFP 5VFQ 5VFR 5VFS 5VFT 5VFU 5VGZ 5VHF 5VHH 5VHI 5VHJ 5VHM 5VHN 5VHO 5VHP 5VHQ 5VHR 5VHS 6MSB 6MSD 6MSE 6MSG 6MSH 6MSJ 6MSK
  • PDBsum: 2DVW 5GJQ 5GJR 5L4G 5LN3 5M32 5T0C 5T0G 5T0H 5T0I 5T0J 5VFP 5VFQ 5VFR 5VFS 5VFT 5VFU 5VGZ 5VHF 5VHH 5VHI 5VHJ 5VHM 5VHN 5VHO 5VHP 5VHQ 5VHR 5VHS 6MSB 6MSD 6MSE 6MSG 6MSH 6MSJ 6MSK
  • DIP: 29274
  • STRING: ENSP00000157812
• Other Databases: GeneCards:  PSMC4  Malacards:  PSMC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045899	positive regulation of RNA polymerase II transcription preinitiation complex assembly	IBA	biological process
GO:0031597	cytosolic proteasome complex	IBA	cellular component
GO:0008540	proteasome regulatory particle, base subcomplex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0022624	proteasome accessory complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0036402	proteasome-activating ATPase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030163	protein catabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000502	proteasome complex	IEA	cellular component
GO:0016887	ATPase activity	TAS	molecular function
GO:0000502	proteasome complex	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
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: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: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:0005654	nucleoplasm	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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031597	cytosolic proteasome complex	IEA	cellular component
GO:0001824	blastocyst development	IEA	biological process
GO:0022624	proteasome accessory complex	IEA	cellular component
GO:0016234	inclusion body	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1901800	positive regulation of proteasomal protein catabolic process	IEA	biological process
GO:0000502	proteasome complex	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray