• Gene id: 2873

Gene Summary

• Gene Symbol: GPS1   Gene   UCSC   Ensembl
• Aliases: COPS1, CSN1, SGN1
• Gene name: G protein pathway suppressor 1
• Alternate names: COP9 signalosome complex subunit 1, JAB1-containing signalosome subunit 1,
• Gene location: 17q25.3 (82051464: 82058063)     Exons: 15     NC_000017.11
• Gene summary(Entrez): This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [pro
• OMIM: 606514

SNPs

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

Protein Summary

• Protein general information: Q13098  
  • Name: COP9 signalosome complex subunit 1 (SGN1) (Signalosome subunit 1) (G protein pathway suppressor 1) (GPS 1) (JAB1 containing signalosome subunit 1) (Protein MFH)
  • Length: 491  
  • Mass: 55537
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MPLPVQVFNLQGAVEPMQIDVDPQEDPQNAPDVNYVVENPSLDLEQYAASYSGLMRIERLQFIADHCPTLRVEAL
  KMALSFVQRTFNVDMYEEIHRKLSEATRSSLRELQNAPDAIPESGVEPPALDTAWVEATRKKALLKLEKLDTDLK
  NYKGNSIKESIRRGHDDLGDHYLDCGDLSNALKCYSRARDYCTSAKHVINMCLNVIKVSVYLQNWSHVLSYVSKA
  ESTPEIAEQRGERDSQTQAILTKLKCAAGLAELAARKYKQAAKCLLLASFDHCDFPELLSPSNVAIYGGLCALAT
  FDRQELQRNVISSSSFKLFLELEPQVRDIIFKFYESKYASCLKMLDEMKDNLLLDMYLAPHVRTLYTQIRNRALI
  QYFSPYVSADMHRMAAAFNTTVAALEDELTQLILEGLISARVDSHSKILYARDVDQRSTTFEKSLLMGKEFQRRA
  KAMMLRAAVLRNQIHVKSPPREGSQGELTPANSQSRMSTNM

• Structural information:
  • Protein Domains: (269..43-)
    (/note="PCI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01185"-)
  • Interpro: IPR033008  IPR000717  IPR019585  IPR036390  
  • Prosite: PS50250
  • PDB: 4D10 4D18 4WSN 6R6H 6R7F 6R7H 6R7I 6R7N
  • PDBsum: 4D10 4D18 4WSN 6R6H 6R7F 6R7H 6R7I 6R7N
  • DIP: 42077
  • STRING: ENSP00000376167
• Other Databases: GeneCards:  GPS1  Malacards:  GPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008180	COP9 signalosome	IBA	cellular component
GO:0008180	COP9 signalosome	IDA	cellular component
GO:0000338	protein deneddylation	IDA	biological process
GO:0008180	COP9 signalosome	IEA	cellular component
GO:0000338	protein deneddylation	IEA	biological process
GO:0008180	COP9 signalosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005095	GTPase inhibitor activity	TAS	molecular function
GO:0000188	inactivation of MAPK activity	TAS	biological process
GO:0007254	JNK cascade	TAS	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
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:0043687	post-translational protein modification	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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq