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

Gene ID: 64785, updated on 3-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
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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 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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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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