This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] See more...

Aliases for GINS3 Gene

Aliases for GINS3 Gene

  • GINS Complex Subunit 3 2 3 4 5
  • PSF3 2 3 4
  • DNA Replication Complex GINS Protein PSF3 3 4
  • GINS Complex Subunit 3 (Psf3 Homolog) 2 3
  • FLJ13912 2
  • GINS3 5

External Ids for GINS3 Gene

Previous GeneCards Identifiers for GINS3 Gene

  • GC16P056985
  • GC16P058426
  • GC16P044295

Summaries for GINS3 Gene

Entrez Gene Summary for GINS3 Gene

  • This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GINS3 Gene

GINS3 (GINS Complex Subunit 3) is a Protein Coding gene. Diseases associated with GINS3 include Nk Cell Deficiency. Among its related pathways are Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis.

UniProtKB/Swiss-Prot Summary for GINS3 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GINS3 Gene

Genomics for GINS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GINS3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GINS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GINS3

Top Transcription factor binding sites by QIAGEN in the GINS3 gene promoter:
  • CUTL1
  • HFH-1
  • HSF2
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-5
  • POU2F1
  • POU2F1a
  • Roaz

Genomic Locations for GINS3 Gene

Latest Assembly
chr16:58,295,080-58,406,147
(GRCh38/hg38)
Size:
111,068 bases
Orientation:
Plus strand

Previous Assembly
chr16:58,426,375-58,440,051
(GRCh37/hg19 by Entrez Gene)
Size:
13,677 bases
Orientation:
Plus strand

chr16:58,328,984-58,440,048
(GRCh37/hg19 by Ensembl)
Size:
111,065 bases
Orientation:
Plus strand

Genomic View for GINS3 Gene

Genes around GINS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GINS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GINS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GINS3 Gene

Proteins for GINS3 Gene

  • Protein details for GINS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRX5-PSF3_HUMAN
    Recommended name:
    DNA replication complex GINS protein PSF3
    Protein Accession:
    Q9BRX5
    Secondary Accessions:
    • B2RDP3
    • E9PB21
    • Q9H870

    Protein attributes for GINS3 Gene

    Size:
    216 amino acids
    Molecular mass:
    24535 Da
    Quaternary structure:
    • Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4 (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293). Forms a stable subcomplex with GINS2 (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293). GINS complex interacts with DNA primase in vitro (PubMed:17170760, PubMed:17417653, PubMed:17545466, PubMed:17557111, PubMed:17652513, PubMed:28414293). Component of the CMG helicase complex, composed of the MCM2-7 complex, the GINS complex and CDC45 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GINS3 Gene

    Alternative splice isoforms for GINS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GINS3 Gene

Post-translational modifications for GINS3 Gene

  • Ubiquitination at Lys74, Lys90, and Lys181
  • Modification sites at PhosphoSitePlus

Other Protein References for GINS3 Gene

No data available for DME Specific Peptides for GINS3 Gene

Domains & Families for GINS3 Gene

Gene Families for GINS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GINS3 Gene

Suggested Antigen Peptide Sequences for GINS3 Gene

GenScript: Design optimal peptide antigens:
  • GINS complex subunit 3 (PSF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRX5

UniProtKB/Swiss-Prot:

PSF3_HUMAN :
  • Belongs to the GINS3/PSF3 family.
Family:
  • Belongs to the GINS3/PSF3 family.
genes like me logo Genes that share domains with GINS3: view

Function for GINS3 Gene

Molecular function for GINS3 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.

Phenotypes From GWAS Catalog for GINS3 Gene

Gene Ontology (GO) - Molecular Function for GINS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26871637
genes like me logo Genes that share ontologies with GINS3: view
genes like me logo Genes that share phenotypes with GINS3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GINS3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GINS3 Gene

Localization for GINS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GINS3 Gene

Nucleus. Chromosome. Note=Associates with chromatin. {ECO:0000250 UniProtKB:Q7ZT01}.

Subcellular locations from

COMPARTMENTS
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 GINS3 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GINS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000811 GINS complex IBA 21873635
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0071162 CMG complex ISS --
genes like me logo Genes that share ontologies with GINS3: view

Pathways & Interactions for GINS3 Gene

genes like me logo Genes that share pathways with GINS3: view

Pathways by source for GINS3 Gene

Gene Ontology (GO) - Biological Process for GINS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
GO:1902975 mitotic DNA replication initiation IBA 21873635
genes like me logo Genes that share ontologies with GINS3: view

No data available for SIGNOR curated interactions for GINS3 Gene

Drugs & Compounds for GINS3 Gene

No Compound Related Data Available

Transcripts for GINS3 Gene

mRNA/cDNA for GINS3 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GINS3

Alternative Splicing Database (ASD) splice patterns (SP) for GINS3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: -
SP3: - -
SP4: - - - -

Relevant External Links for GINS3 Gene

GeneLoc Exon Structure for
GINS3

Expression for GINS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GINS3 Gene

Protein differential expression in normal tissues from HIPED for GINS3 Gene

This gene is overexpressed in Monocytes (33.9) and Lung (33.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GINS3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GINS3

SOURCE GeneReport for Unigene cluster for GINS3 Gene:

Hs.47125

Evidence on tissue expression from TISSUES for GINS3 Gene

  • Skin(4.3)
  • Muscle(4.3)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with GINS3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GINS3 Gene

Orthologs for GINS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GINS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GINS3 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GINS3 29 30
  • 91.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GINS3 29 30
  • 89.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gins3 29 16 30
  • 86.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gins3 29
  • 86.88 (n)
Oppossum
(Monodelphis domestica)
Mammalia GINS3 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GINS3 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GINS3 29 30
  • 74.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GINS3 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gins3 29
  • 70.49 (n)
Str.15218 29
African clawed frog
(Xenopus laevis)
Amphibia flj13912-prov 29
Zebrafish
(Danio rerio)
Actinopterygii gins3 29 30
  • 65.54 (n)
OneToOne
Dr.13962 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.421 29
Fruit Fly
(Drosophila melanogaster)
Insecta Psf3 29 30
  • 46.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011132 29
  • 42.75 (n)
Species where no ortholog for GINS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GINS3 Gene

ENSEMBL:
Gene Tree for GINS3 (if available)
TreeFam:
Gene Tree for GINS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GINS3: view image
Alliance of Genome Resources:
Additional Orthologs for GINS3

Paralogs for GINS3 Gene

No data available for Paralogs for GINS3 Gene

Variants for GINS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GINS3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
928856 Uncertain Significance: not specified 58,403,153(+) G/A
NM_022770.4(GINS3):c.242G>A (p.Arg81Gln)
MISSENSE_VARIANT,INTRON
rs1334583313 Uncertain Significance: not specified 58,403,198(+) G/C
NM_022770.4(GINS3):c.287G>C (p.Trp96Ser)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GINS3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for GINS3 Gene

Residual Variation Intolerance Score: 68.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GINS3 Gene

Human Gene Mutation Database (HGMD)
GINS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GINS3
Leiden Open Variation Database (LOVD)
GINS3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GINS3 Gene

Disorders for GINS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GINS3 Gene - From: GCD

Disorder Aliases PubMed IDs
nk cell deficiency
  • nk cell defects
- elite association - COSMIC cancer census association via MalaCards
Search GINS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GINS3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GINS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GINS3 Gene

Publications for GINS3 Gene

  1. 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) 2 3 4
  2. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C … Stricker BH (Nature genetics 2009) 3 40
  3. The human GINS complex binds to and specifically stimulates human DNA polymerase alpha-primase. (PMID: 17170760) De Falco M … Pisani FM (EMBO reports 2007) 3 4
  4. Molecular architecture of the human GINS complex. (PMID: 17557111) Boskovic J … Montoya G (EMBO reports 2007) 3 4
  5. Crystal structure of the human GINS complex. (PMID: 17545466) Choi JM … Cho Y (Genes & development 2007) 3 4

Products for GINS3 Gene

Sources for GINS3 Gene