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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GINS3 Gene

protein-coding   GIFtS: 47
GCID: GC16P058426

GINS complex subunit 3 (Psf3 homolog)
 Explore 1 disease affiliated with
GINS3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GINS3    

Aliases
for GINS3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GINS Complex Subunit 3 (Psf3 Homolog)1 2
PSF31 2 3 5
FLJ139121
DNA Replication Complex GINS Protein PSF32
GINS Complex Subunit 33

External Ids:    HGNC: 258511   Entrez Gene: 647852   Ensembl: ENSG000001819387   OMIM: 6106105   UniProtKB: Q9BRX53   

Export aliases for GINS3 gene to outside databases

Previous GC identifers: GC16P056985 GC16P044295


Summaries
for GINS3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GINS3:
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)

UniProtKB/Swiss-Prot: PSF3_HUMAN, Q9BRX5
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




Genomic Views
for GINS3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GINS3 gene promoter:
         Nkx3-1 v2   Nkx3-1 v4   POU2F1   Pax-5   HSF2   POU2F1a   HFH-1   Nkx3-1 v3   CUTL1   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GINS3 promoter sequence
   Search SABiosciences Chromatin IP Primers for GINS3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GINS3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q21

GINS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GINS3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P058426:  view genomic region     (about GC identifiers)

Start:
 58,328,984 bp from pter      End:
 58,440,048 bp from pter
Size:
 111,065 bases      Orientation:
 plus strand

Proteins
for GINS3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PSF3_HUMAN, Q9BRX5 (See protein sequence)
Recommended Name: DNA replication complex GINS protein PSF3  
Size: 216 amino acids; 24535 Da
Subunit: Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable
subcomplex with GINS2. GINS complex interacts with DNA primase in vitro
Subcellular location: Nucleus (By similarity)
Mass spectrometry: Mass=98373; Mass_error=13; Method=Electrospray; Range=1-216; Note=This is the measured mass for the
GINS complex; Source=PubMed:17557111;
3 PDB 3D structures from and Proteopedia for GINS3:
2E9X (3D)        2EHO (3D)        2Q9Q (3D)    
Secondary accessions: B2RDP3 Q9H870
Alternative splicing: 2 isoforms:  Q9BRX5-1   Q9BRX5-2   

Explore the universe of human proteins at neXtProt for GINS3: NX_Q9BRX5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BRX5

    • GINS3 Protein expression data from MOPED and PaxDb:    About this image 
    GINS3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001119601.1  NP_001119602.1  NP_073607.2  

    ENSEMBL proteins: 
     ENSP00000401018   ENSP00000327449   ENSP00000318196  

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    Uscn Proteins for GINS3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    GINS3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GINS3

    Protein Domains /
    Families
    for GINS3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GINS3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010492 GINS_Psf3
     IPR021151 GINS_complex

    Graphical View of Domain Structure for InterPro Entry Q9BRX5

    ProtoNet protein and cluster: Q9BRX5

    UniProtKB/Swiss-Prot: PSF3_HUMAN, Q9BRX5
    Similarity: Belongs to the GINS3/PSF3 family


    Function
    for GINS3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSF3_HUMAN, Q9BRX5
    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:
         1 GenomeRNAi human phenotype for GINS3:

     Decreased viability of wild-ty 

    Animal Models:
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Pathways & Interactions
    for GINS3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GINS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for GINS3 (ENSP000004010184) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GINS2ENSP000002534624STRING: ENSP00000253462
    GINS1ENSP000002624604STRING: ENSP00000262460
    GINS4ENSP000002765334STRING: ENSP00000276533
    MCM2ENSP000002650564STRING: ENSP00000265056
    MCM6ENSP000002641564STRING: ENSP00000264156
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IEA--

    GINS3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GINS3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GINS3
    Search CenterWatch for drugs/clinical trials and news about GINS3 / PSF3 

    Transcripts
    for GINS3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GINS3 gene (3 alternative transcripts): 
    NM_001126129.1  NM_001126130.1  NM_022770.3  

    Unigene Cluster for GINS3:

    GINS complex subunit 3 (Psf3 homolog)
    Hs.47125  [show with all ESTs]
    Unigene Representative Sequence: AK127454
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567400 ENST00000561952 ENST00000568468 ENST00000564814 ENST00000567432
    ENST00000426538 ENST00000328514 ENST00000318129(uc010cdj.3 uc002enh.4 uc002enj.4)
    ENST00000567909 ENST00000567143

    miRNA
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    hsa-miR-3660 hsa-miR-106a* hsa-miR-7 hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmid: GINS3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK023974.1 AK127454.1 AK315622.1 AL137379.1 BC005879.1 BC014437.1 CR457283.1 

    10 DOTS entries:

    DT.212408  DT.95374156  DT.97843657  DT.100752335  DT.101963956  DT.120687748  DT.120687741  DT.95374155 
    DT.100728261  DT.120687742 

    24/124 AceView cDNA sequences (see all 124):

    AL137379 BF797402 BM904357 AI361922 AA745241 CR604342 AI421812 AL524624 
    BC014437 BQ231741 BG257517 BG744402 BQ422835 CR614103 AA593197 BF791592 
    BF432544 BP372562 CR611482 CD676320 BI489800 CR613063 BQ645203 AW674611 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GINS3    About this scheme

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


    ECgene alternative splicing isoforms for GINS3

    Expression
    for GINS3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GINS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAGCAAA
    GINS3 Expression
    About this image

    GINS3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GINS3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GINS3

    SOURCE GeneReport for Unigene cluster: Hs.47125
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    Orthologs
    for GINS3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GINS3 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Gins31 , 5 GINS complex subunit 3 (Psf3 homolog)1, 5 86.88(n)1
    89.35(a)1    		   8 (47.12 cM)5
    788331  NM_030198.31  NP_084474.11 
     956335595 
    chicken
    (Gallus gallus)    		 Aves GINS31 GINS complex subunit 3 (Psf3 homolog) 74.8(n)
    76.53(a)    		   415625  XM_413991.3  XP_413991.2 
    lizard
    (Anolis carolinensis)    		 Reptilia GINS36
    		 --
    		 77(a)
    		 1 ↔ 1
    		 AAWZ02038008(1545-3581)
    African clawed frog
    (Xenopus laevis)    		 Amphibia flj13912-prov2 hypothetical protein MGC53660 76.31(n)    BC043845.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.139622 Transcribed sequence with moderate similarity to protein more 74.16(n)    BM140836.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Psf31 CG2222-PA 46.38(n)
    32.8(a)    		   31967  NM_132396.1  NP_572624.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons TTN106
    AT3G554906
    		 GINS complex protein
    		 25(a)
    25(a)
    		 many → 1
    many → 1
    		 1(6584241-6586517)
    3(20572024-20573682)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 PSF3 - Putative GINS complex subunit, expressed
    		 25(a)
    		 1 ↔ 1
    		 8(10566335-10577015)


    ENSEMBL Gene Tree for GINS3 (if available)
    TreeFam Gene Tree for GINS3 (if available) 

    Paralogs
    for GINS3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for GINS3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/294 NCBI SNPs in GINS3 are shown (see all 294)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1383212931,2
    		--58424748(+) AATCTC/TTCTCT 3 -- us2k10--------
    rs1428247771,2
    		--58424783(+) TTCCTA/GAAGCC 3 -- us2k10--------
    rs1840731511,2
    		--58424960(+) TGACAA/GTCAAT 3 -- us2k10--------
    rs80480371,2
    		C,F,A,H--58424968(+) AATGAG/ATTAGT 3 -- us2k1 tfbs328Minor allele frequency- A:0.09NS EA NA WA 2544
    rs1872403581,2
    		--58425073(+) GAGAGC/GGAGGA 3 -- us2k10--------
    rs1905140181,2
    		--58425106(+) CGTGGC/GAAGGA 3 -- us2k10--------
    rs1146160451,2
    		F--58425138(+) AGTCTG/CAACAA 3 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1460739851,2
    		--58425311(+) GGTTGA/GTTGGT 3 -- us2k10--------
    rs773983931,2
    		--58425567(+) AATATG/CCCGCC 3 -- us2k12Minor allele frequency- C:0.06CSA WA 120
    rs1824335231,2
    		--58425597(+) GAGAGA/CCACCA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for GINS3 (58328984 - 58440048 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GINS3: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GINS3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GINS3 for disorders           About GeneDecksing

    OMIM gene information: 610610    OMIM disorders: --

    1 disease for GINS3:    About MalaCards
    colon cancer

    1 disease from the University of Copenhagen DISEASES database for GINS3:
    Long QT syndrome
    Human Genome Epidemiology (HuGE) Navigator: GINS3 (1 document)

    Export disorders for GINS3 gene to outside databases

    Publications
    for GINS3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GINS3 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with GINS3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of the human GINS complex. (PubMed id 17545466)1, 2 Choi J.M.... Cho Y. (2007)
    2. Molecular architecture of the human GINS complex. (PubMed id 17557111)1, 2 Boskovic J.... Montoya G. (2007)
    3. The human GINS complex binds to and specifically stimulates human DNA polymerase alpha-primase. (PubMed id 17170760)1, 2 De Falco M....Pisani F.M. (2007)
    4. Crystal structure of the GINS complex and functional insights into its role in DNA replication. (PubMed id 17652513)1, 2 Chang Y.P.... Chen X.S. (2007)
    5. Structure of the human GINS complex and its assembly and functional interface in replication initiation. (PubMed id 17417653)1, 2 Kamada K.... Hanaoka F. (2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for GINS3 gene

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    Genome Databases showing GINS3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64785 HGNC: 25851 AceView: FLJ13912 Ensembl:ENSG00000181938 euGenes: HUgn64785
    ECgene: GINS3 H-InvDB: GINS3

    Other Databases showing GINS3 gene

    (According to HUGE)
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    Specialized Databases showing GINS3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GINS3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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