• Gene id: 5711

Gene Summary

• Gene Symbol: PSMD5   Gene   UCSC   Ensembl
• Aliases: S5B
• Gene name: proteasome 26S subunit, non-ATPase 5
• Alternate names: 26S proteasome non-ATPase regulatory subunit 5, 26S protease subunit S5 basic, 26S proteasome subunit S5B, proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,
• Gene location: 9q33.2 (120842921: 120816052)     Exons: 10     NC_000009.12
• 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: 604452

SNPs

rs6124715

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

NC_000020.11   g.45548848C>G
NC_000020.11   g.45548848C>T
NC_000020.10   g.44177487C>G
NC_000020.10   g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2227290

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

NC_000020.11   g.45547503G>C
NC_000020.11   g.45547503G>T
NC_000020.10   g.44176142G>C
NC_000020.10   g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

Protein Summary

• Protein general information: Q16401  
  • Name: 26S proteasome non ATPase regulatory subunit 5 (26S protease subunit S5 basic) (26S proteasome subunit S5B)
  • Length: 504  
  • Mass: 56196
• Sequence:

  MAAQALALLREVARLEAPLEELRALHSVLQAVPLNELRQQAAELRLGPLFSLLNENHREKTTLCVSILERLLQAM
  EPVHVARNLRVDLQRGLIHPDDSVKILTLSQIGRIVENSDAVTEILNNAELLKQIVYCIGGENLSVAKAAIKSLS
  RISLTQAGLEALFESNLLDDLKSVMKTNDIVRYRVYELIIEISSVSPESLNYCTTSGLVTQLLRELTGEDVLVRA
  TCIEMVTSLAYTHHGRQYLAQEGVIDQISNIIVGADSDPFSSFYLPGFVKFFGNLAVMDSPQQICERYPIFVEKV
  FEMIESQDPTMIGVAVDTVGILGSNVEGKQVLQKTGTRFERLLMRIGHQSKNAPVELKIRCLDAISSLLYLPPEQ
  QTDDLLRMTESWFSSLSRDPLELFRGISSQPFPELHCAALKVFTAIANQPWAQKLMFNSPGFVEYVVDRSVEHDK
  ASKDAKYELVKALANSKTIAEIFGNPNYLRLRTYLSEGPYYVKPVSTTAVEGAE

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR019538  
  • STRING: ENSP00000210313
• Other Databases: GeneCards:  PSMD5  Malacards:  PSMD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008540	proteasome regulatory particle, base subcomplex	IDA	colocalizes with
GO:0022624	proteasome accessory complex	ISS	cellular component
GO:0043248	proteasome assembly	IEA	biological process
GO:0000502	proteasome complex	TAS	cellular component
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: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:0070682	proteasome regulatory particle assembly	IDA	biological process
GO:0008540	proteasome regulatory particle, base subcomplex	IDA	colocalizes with

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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