• Gene id: 9837

Gene Summary

• Gene Symbol: GINS1   Gene   UCSC   Ensembl
• Aliases: IMD55, PSF1
• Gene name: GINS complex subunit 1
• Alternate names: DNA replication complex GINS protein PSF1, GINS complex subunit 1 (Psf1 homolog), partner of sld five-1,
• Gene location: 20p11.21 (25407469: 25448567)     Exons: 11     NC_000020.11
• Gene summary(Entrez): The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg ext
• OMIM: 610608

Protein Summary

• Protein general information: Q14691  
  • Name: DNA replication complex GINS protein PSF1 (GINS complex subunit 1)
  • Length: 196  
  • Mass: 22988
• Sequence:

  MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGGRSDLIPTIKFRHCSLLRNRRC
  TVAYLYDRLLRIRALRWEYGSVLPNALRFHMAAEEMEWFNNYKRSLATYMRSLGGDEGLDITQDMKPPKSLYIEV
  RCLKDYGEFEVDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHILS

• Structural information:
  • Interpro: IPR036224  IPR005339  
  • CDD: cd11710
  • PDB: 2E9X 2EHO 2Q9Q
  • PDBsum: 2E9X 2EHO 2Q9Q
  • DIP: 29331
  • STRING: ENSP00000262460
• Other Databases: GeneCards:  GINS1  Malacards:  GINS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902983	DNA strand elongation involved in mitotic DNA replication	IBA	biological process
GO:0000811	GINS complex	IBA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0000811	GINS complex	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006271	DNA strand elongation involved in DNA replication	TAS	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray