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    GINS3 GINS complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 64785, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GINS3provided by HGNC
    Official Full Name
    GINS complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:25851
    See related
    Ensembl:ENSG00000181938 MIM:610610; AllianceGenome:HGNC:25851
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSF3
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.0), testis (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GINS3 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58392471..58406147)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (64090370..64201439)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58426375..58440051)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 269, pseudogene Neighboring gene RNA, U6 small nuclear 1110, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:58426014-58426591 and GRCh37_chr16:58426592-58427168 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:58429197-58429842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7550 Neighboring gene long intergenic non-protein coding RNA 2137 Neighboring gene Sharpr-MPRA regulatory region 11516 Neighboring gene Sharpr-MPRA regulatory region 12894 Neighboring gene NDRG family member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:58521475-58521826 Neighboring gene Sharpr-MPRA regulatory region 13659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58529535-58530090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:58530091-58530646 Neighboring gene RNA, U6 small nuclear 103, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PSF3 marks malignant colon cancer and has a role in cancer cell proliferation. Nagahama Y, et al. Biochem Biophys Res Commun, 2010 Feb 5. PMID 20059967
    2. Crystal structure of the human GINS complex. Choi JM, et al. Genes Dev, 2007 Jun 1. PMID 17545466, Free PMC Article
    3. Psf3 is a prognostic biomarker in lung adenocarcinoma. Hokka D, et al. Lung Cancer, 2013 Jan. PMID 23127337
    4. Partner of Sld five 3: a potential prognostic biomarker for colorectal cancer. Sun X, et al. Diagn Pathol, 2014 Nov 18. PMID 25403684, Free PMC Article
    5. Significant role of Psf3 expression in non-small-cell lung cancer. Tane S, et al. Cancer Sci, 2015 Nov. PMID 26291987, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma.
      Title: Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma.
    2. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
      Title: Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
    3. mRNA expressions of all GINS subunits were significantly up-regulated in hepatocellular carcinoma tumor than in non-tumor liver tissues.
      Title: Up-regulated and interrelated expressions of GINS subunits predict poor prognosis in hepatocellular carcinoma.
    4. The authors show that GINS is a compact tetramer in solution as observed in crystal structures, but also forms a double-tetrameric population, detectable by electron microscopy.
      Title: New insights into the GINS complex explain the controversy between existing structural models.
    5. expression in primary lung adenocarcinoma plays an important role in disease progression and is a prognostic indicator
      Title: Psf3 is a prognostic biomarker in lung adenocarcinoma: a larger trial using tissue microarrays of 864 consecutive resections.
    6. Psf3 expression was strongly correlated with tumor progression in non-small-cell lung cancer
      Title: Significant role of Psf3 expression in non-small-cell lung cancer.
    7. Two downregulated genes, NDRG4 and GINS3, have been located in a genomic interval associated with cardiac repolarization in published GWASs and zebra fish knockout models
      Title: Adipose tissue gene expression and metabolic health of obese adults.
    8. PSF3 expression plays an important role in the progression of colorectal cancer and acts as a factor significantly affecting the prognosis of patients.
      Title: Partner of Sld five 3: a potential prognostic biomarker for colorectal cancer.
    9. a prognostic biomarker in lung adenocarcinoma
      Title: Psf3 is a prognostic biomarker in lung adenocarcinoma.
    10. These results suggest that PSF3 is a potential biomarker for diagnosis of progression in colon cancer and could
      Title: PSF3 marks malignant colon cancer and has a role in cancer cell proliferation.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA unwinding involved in DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA unwinding involved in DNA replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of CMG complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of CMG complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of GINS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of GINS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA replication complex GINS protein PSF3
    Names
    GINS complex subunit 3 (Psf3 homolog)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001126129.2 → NP_001119601.1  DNA replication complex GINS protein PSF3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC009118, BC005879, BP374281, DA550725
      Consensus CDS
      CCDS45498.1
      UniProtKB/TrEMBL
      A0A0S2Z5P2
      Related
      ENSP00000401018.2, ENST00000426538.6
      Conserved Domains (1) summary
      cd11713
      Location:122 → 231
      GINS_A_psf3; Alpha-helical domain of GINS complex protein Psf3 (partner of Sld5 3)

    2. NM_001126130.2 → NP_001119602.1  DNA replication complex GINS protein PSF3 isoform c

      See identical proteins and their annotated locations for NP_001119602.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AC009118, BC005879, DA550725
      Consensus CDS
      CCDS45499.1
      UniProtKB/TrEMBL
      A0A0S2Z5L4
      Related
      ENSP00000327449.7, ENST00000328514.11
      Conserved Domains (2) summary
      cd11713
      Location:42 → 114
      GINS_A_psf3; Alpha-helical domain of GINS complex protein Psf3 (partner of Sld5 3)
      cl41778
      Location:19 → 62
      GINS_B; beta-strand (B) domain of GINS complex proteins: Sld5, Psf1, Psf2, Psf3, Gins51 and Gins23

    3. NM_022770.4 → NP_073607.2  DNA replication complex GINS protein PSF3 isoform b

      See identical proteins and their annotated locations for NP_073607.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC009118, BC005879, DA550725
      Consensus CDS
      CCDS10796.1
      UniProtKB/Swiss-Prot
      B2RDP3, E9PB21, Q9BRX5, Q9H870
      UniProtKB/TrEMBL
      A0A0S2Z5L0
      Related
      ENSP00000318196.6, ENST00000318129.6
      Conserved Domains (2) summary
      cd11713
      Location:83 → 192
      GINS_A_psf3; Alpha-helical domain of GINS complex protein Psf3 (partner of Sld5 3)
      cd21693
      Location:19 → 89
      GINS_B_Psf3; beta-strand (B) domain of GINS complex protein Psf3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      58392471..58406147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      64090370..64201439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313730.1 → XP_054169705.1  DNA replication complex GINS protein PSF3 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5P2

    2. XM_054313732.1 → XP_054169707.1  DNA replication complex GINS protein PSF3 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5P2

    3. XM_054313736.1 → XP_054169711.1  DNA replication complex GINS protein PSF3 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z5L4

    4. XM_054313735.1 → XP_054169710.1  DNA replication complex GINS protein PSF3 isoform X2

      UniProtKB/Swiss-Prot
      B2RDP3, E9PB21, Q9BRX5, Q9H870
      UniProtKB/TrEMBL
      A0A0S2Z5L0

    5. XM_054313731.1 → XP_054169706.1  DNA replication complex GINS protein PSF3 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5P2

    6. XM_054313734.1 → XP_054169709.1  DNA replication complex GINS protein PSF3 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5P2

    7. XM_054313733.1 → XP_054169708.1  DNA replication complex GINS protein PSF3 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5P2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRX5.1 GenPept UniProtKB/Swiss-Prot:Q9BRX5

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