Gene Gene information from NCBI Gene database.
Entrez ID 9837
Gene name GINS complex subunit 1
Gene symbol GINS1
Synonyms (NCBI Gene)
IMD55PSF1
Chromosome 20
Chromosome location 20p11.21
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs137901350 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs376610445 G>A Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
587
miRTarBase ID miRNA Experiments Reference
MIRT021144 hsa-miR-186-5p Sequencing 20371350
MIRT025773 hsa-miR-7-5p Microarray 19073608
MIRT029528 hsa-miR-26b-5p Microarray 19088304
MIRT040758 hsa-miR-18a-3p CLASH 23622248
MIRT083229 hsa-miR-19a-3p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000811 Component GINS complex IBA
GO:0000811 Component GINS complex IEA
GO:0000811 Component GINS complex IPI 17417653
GO:0001833 Process Inner cell mass cell proliferation IEA
GO:0005515 Function Protein binding IPI 17417653, 17652513, 32769987, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610608 28980 ENSG00000101003
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14691
Protein name DNA replication complex GINS protein PSF1 (GINS complex subunit 1)
Protein function Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293). GINS complex is a core component of C
PDB 2E9X , 2EHO , 2Q9Q , 6XTX , 6XTY , 7PFO , 7PLO , 8B9D , 8OK2
Family and domains
Sequence
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGGRSDLIP
TIKFRHCSLLRNRRCTVAYLYDRLLRIRALRWEYGSVLPNALRFHMAAEEMEWFNNYKRS
LATYMRSLGGDEGLDITQDMKPPKSLYIEVRCLKDYGEFEVDDGTSVLLKKNSQHFLPRW
KCEQLIRQGVLEHILS
Sequence length 196
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Unwinding of DNA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined immunodeficiency due to GINS1 deficiency Pathogenic; Likely pathogenic rs2146178281, rs376610445 RCV000576883
RCV000576872
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GINS1-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs140932797, rs201539344, rs750776640, rs137901350 RCV003908839
RCV003933431
RCV003419007
RCV004755976
See cases Uncertain significance rs1282406957 RCV002252494
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34852135
Breast Neoplasms Associate 20825491, 31758680, 40381037
Breast Neoplasms Stimulate 33725952
Carcinoma Hepatocellular Associate 25198552, 34852135
Carcinoma Renal Cell Associate 34852135
Chromosomal Instability Associate 36516748
COVID 19 Associate 36451247
Esophageal Squamous Cell Carcinoma Associate 34365093
Growth Disorders Associate 24027063
Inflammation Associate 37904396