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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined immunodeficiency due to GINS1 deficiency Pathogenic; Likely pathogenic rs2146178281, rs376610445 RCV000576883
RCV000576872
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO GINS COMPLEX SUBUNIT 1 DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GINS1-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 55 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 1570316
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20825491, 31755218
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20825491, 31758680, 40381037 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33725952 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25198552, 34852135 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25398693
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34852135 Associate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 36516748 Associate
★☆☆☆☆
Found in Text Mining only
Chronic neutropenia Neutropenia GENOMICS_ENGLAND_DG 28414293
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 20103637
★☆☆☆☆
Found in Text Mining only