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Aliases for GINS1 Gene

Aliases for GINS1 Gene

  • GINS Complex Subunit 1 2 3 4 5
  • GINS Complex Subunit 1 (Psf1 Homolog) 2 3
  • PSF1 3 4
  • DNA Replication Complex GINS Protein PSF1 3
  • Partner Of Sld Five-1 3
  • KIAA0186 4
  • IMD55 3

External Ids for GINS1 Gene

Previous GeneCards Identifiers for GINS1 Gene

  • GC20P025329

Summaries for GINS1 Gene

Entrez Gene Summary for GINS1 Gene

  • 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 extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GINS1 Gene

GINS1 (GINS Complex Subunit 1) is a Protein Coding gene. Diseases associated with GINS1 include Immunodeficiency 55. Among its related pathways are Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis.

UniProtKB/Swiss-Prot for GINS1 Gene

  • The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. GINS1 is essential for function.

Gene Wiki entry for GINS1 Gene

Additional gene information for GINS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GINS1 Gene

Genomics for GINS1 Gene

GeneHancer (GH) Regulatory Elements for GINS1 Gene

Promoters and enhancers for GINS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J025389 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.4 -16.9 -16927 2.6 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 SP3 SP5 ABHD12 GINS1 PPIAP2
GH20J025406 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.8 769 2.5 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B GINS1 LOC105372581 PIR61298 ABHD12 NANP PYGB ZNF337 FAM182B ZNF337-AS1
GH20J025375 Enhancer 0.9 dbSUPER 13.3 -29.9 -29914 4.8 FOXA2 MLX ARID4B DMAP1 ETS1 SLC30A9 ATF7 FOS NFKBIZ SP5 ABHD12 PYGB GINS1 NINL ZNF337 PPIAP2
GH20J025321 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 12.1 -85.7 -85690 1.2 ZFHX2 EGR2 ABHD12 GINS1 PYGB NANP GC20P025297 GC20P025348
GH20J025089 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 1.3 -316.3 -316264 2.5 GLIS1 IKZF1 EBF1 ZIC2 ZNF18 ACSS1 VSX1 PYGB GINS1 LOC391239
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GINS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GINS1 gene promoter:
  • Pax-5
  • ZID
  • deltaCREB
  • CREB
  • RREB-1
  • Pax-4a
  • SRF (504 AA)
  • SRF
  • POU2F1

Genomic Locations for GINS1 Gene

Genomic Locations for GINS1 Gene
45,185 bases
Plus strand
44,942 bases
Plus strand

Genomic View for GINS1 Gene

Genes around GINS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GINS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GINS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GINS1 Gene

Proteins for GINS1 Gene

  • Protein details for GINS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA replication complex GINS protein PSF1
    Protein Accession:
    Secondary Accessions:
    • Q9NQE2
    • Q9NQI7

    Protein attributes for GINS1 Gene

    196 amino acids
    Molecular mass:
    22988 Da
    Quaternary structure:
    • Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS4. GINS complex interacts with DNA primase in vitro.
    • Sequence=BAA11503.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GINS1 Gene

neXtProt entry for GINS1 Gene

Post-translational modifications for GINS1 Gene

  • Ubiquitination at isoforms=63 and Lys51
  • Modification sites at PhosphoSitePlus

Other Protein References for GINS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GINS1 Gene

Domains & Families for GINS1 Gene

Gene Families for GINS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GINS1 Gene

Suggested Antigen Peptide Sequences for GINS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GINS1/PSF1 family.
  • Belongs to the GINS1/PSF1 family.
genes like me logo Genes that share domains with GINS1: view

Function for GINS1 Gene

Molecular function for GINS1 Gene

UniProtKB/Swiss-Prot Function:
The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. GINS1 is essential for function.
UniProtKB/Swiss-Prot Induction:
Significantly up-regulated in aggressive melanomas.

Gene Ontology (GO) - Molecular Function for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043138 3-5 DNA helicase activity IBA --
genes like me logo Genes that share ontologies with GINS1: view
genes like me logo Genes that share phenotypes with GINS1: view

Animal Models for GINS1 Gene

MGI Knock Outs for GINS1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GINS1 Gene

Localization for GINS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GINS1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GINS1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000811 GINS complex IBA --
GO:0005634 nucleus IDA,IEA 10942595
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 10942595
genes like me logo Genes that share ontologies with GINS1: view

Pathways & Interactions for GINS1 Gene

genes like me logo Genes that share pathways with GINS1: view

Pathways by source for GINS1 Gene

Gene Ontology (GO) - Biological Process for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001833 inner cell mass cell proliferation IEA --
GO:0006260 DNA replication IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
GO:0032508 DNA duplex unwinding IEA --
GO:1902983 DNA strand elongation involved in mitotic DNA replication IBA --
genes like me logo Genes that share ontologies with GINS1: view

No data available for SIGNOR curated interactions for GINS1 Gene

Drugs & Compounds for GINS1 Gene

No Compound Related Data Available

Transcripts for GINS1 Gene

mRNA/cDNA for GINS1 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GINS1 Gene

GINS complex subunit 1 (Psf1 homolog):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GINS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - -

Relevant External Links for GINS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GINS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GINS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GINS1 Gene

This gene is overexpressed in Testis (x7.9).

Protein differential expression in normal tissues from HIPED for GINS1 Gene

This gene is overexpressed in Lung (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GINS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GINS1 Gene:


SOURCE GeneReport for Unigene cluster for GINS1 Gene:


Evidence on tissue expression from TISSUES for GINS1 Gene

  • Bone marrow(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GINS1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GINS1 Gene

Orthologs for GINS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GINS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GINS1 34 33
  • 99.83 (n)
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
-- 34
  • 92 (a)
GINS1 33
  • 89.97 (n)
(Bos Taurus)
Mammalia GINS1 34
  • 93 (a)
LOC523427 33
  • 88.78 (n)
(Monodelphis domestica)
Mammalia GINS1 34
  • 92 (a)
(Mus musculus)
Mammalia Gins1 16 34 33
  • 88.44 (n)
(Rattus norvegicus)
Mammalia Gins1 33
  • 88.44 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
-- 34
  • 73 (a)
(Gallus gallus)
Aves GINS1 34 33
  • 71.97 (n)
(Anolis carolinensis)
Reptilia GINS1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gins1 33
  • 78.74 (n)
Str.20188 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23934 33
(Danio rerio)
Actinopterygii gins1 34 33
  • 73.64 (n)
Dr.8483 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.769 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010835 33
  • 53.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psf1 34 33
  • 52.5 (n)
CG32318 34
  • 33 (a)
(Caenorhabditis elegans)
Secernentea R53.6 33
  • 50 (n)
psf-1 34
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSF1 36 34
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PSF1 33
  • 42.86 (n)
(Oryza sativa)
Liliopsida Os05g0453800 33
  • 48.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10775 34
  • 61 (a)
Species where no ortholog for GINS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GINS1 Gene

Gene Tree for GINS1 (if available)
Gene Tree for GINS1 (if available)
Evolutionary constrained regions (ECRs) for GINS1: view image

Paralogs for GINS1 Gene

(9) SIMAP similar genes for GINS1 Gene using alignment to 3 proteins:

  • E7EQ95_HUMAN
genes like me logo Genes that share paralogs with GINS1: view

No data available for Paralogs for GINS1 Gene

Variants for GINS1 Gene

Sequence variations from dbSNP and Humsavar for GINS1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs137901350 pathogenic, IMMUNODEFICIENCY 55 25,418,112(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs376610445 pathogenic, IMMUNODEFICIENCY 55 25,441,709(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs974304393 pathogenic, IMMUNODEFICIENCY 55 25,407,773(+) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000008557 -- 25,444,550(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000049933 -- 25,408,509(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GINS1 Gene

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
esv2676461 CNV deletion 23128226
esv3645586 CNV loss 21293372
esv3893324 CNV gain 25118596
nsv1059494 CNV gain 25217958
nsv1067379 CNV gain 25217958
nsv472650 CNV novel sequence insertion 20440878
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781
nsv833948 CNV loss 17160897

Variation tolerance for GINS1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GINS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GINS1 Gene

Disorders for GINS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GINS1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 55
  • imd55
- elite association - COSMIC cancer census association via MalaCards
Search GINS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GINS1

genes like me logo Genes that share disorders with GINS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GINS1 Gene

Publications for GINS1 Gene

  1. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 58
  2. Structure of the human GINS complex and its assembly and functional interface in replication initiation. (PMID: 17417653) Kamada K … Hanaoka F (Nature structural & molecular biology 2007) 3 4 58
  3. A combined computational and experimental study on the structure-regulation relationships of putative mammalian DNA replication initiator GINS. (PMID: 17127213) Hayashi R … Yoshida K (Genomics, proteomics & bioinformatics 2006) 3 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for GINS1 Gene

Sources for GINS1 Gene

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