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    Gins1 GINS complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 69270, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gins1provided by MGI
    Official Full Name
    GINS complex subunit 1provided by MGI
    Primary source
    MGI:MGI:1916520
    See related
    Ensembl:ENSMUSG00000027454 AllianceGenome:MGI:1916520
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PSF1; Gins4; mKIAA0186; 2810418N01Rik
    Summary
    Acts upstream of or within DNA replication and inner cell mass cell proliferation. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in immunodeficiency 55. Orthologous to human GINS1 (GINS complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E11.5 (RPKM 13.6), liver E14 (RPKM 13.1) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gins1 in Genome Data Viewer
    Location:
    2 G3; 2 74.75 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (150751482..150773200)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (150909556..150931280)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 12 Neighboring gene predicted gene, 23598 Neighboring gene predicted gene, 54124 Neighboring gene STARR-positive B cell enhancer ABC_E11167 Neighboring gene STARR-seq mESC enhancer starr_06018 Neighboring gene STARR-seq mESC enhancer starr_06019 Neighboring gene ribosomal protein L41 pseudogene Neighboring gene eukaryotic translation initiation factor 4E-binding protein 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_06020 Neighboring gene ninein-like Neighboring gene STARR-seq mESC enhancer starr_06023 Neighboring gene ribosomal protein L7A pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. PSF1, a DNA replication factor expressed widely in stem and progenitor cells, drives tumorigenic and metastatic properties. Nagahama Y, et al. Cancer Res, 2010 Feb 1. PMID 20103637
    2. Both alleles of PSF1 are required for maintenance of pool size of immature hematopoietic cells and acute bone marrow regeneration. Ueno M, et al. Blood, 2009 Jan 15. PMID 18984863
    3. PSF1 is essential for early embryogenesis in mice. Ueno M, et al. Mol Cell Biol, 2005 Dec. PMID 16287864, Free PMC Article
    4. Identification and characterization of mouse PSF1-binding protein, SLD5. Kong L, et al. Biochem Biophys Res Commun, 2006 Jan 27. PMID 16338220
    5. A key role for the GINS complex at DNA replication forks. Labib K, et al. Trends Cell Biol, 2007 Jun. PMID 17467990

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Findings implicate PSF1 in tumorigenesis and offer initial evidence of its potential as a theranostic target.
      Title: PSF1, a DNA replication factor expressed widely in stem and progenitor cells, drives tumorigenic and metastatic properties.
    2. expression of mammalian GINS is regulated by 17beta-Estradiol-stimulated estrogen receptor alpha, and PSF3 acts as a gene responsive to transcription factor E2F1
      Title: A combined computational and experimental study on the structure-regulation relationships of putative mammalian DNA replication initiator GINS.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA strand elongation involved in mitotic DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA unwinding involved in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA unwinding involved in DNA replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within inner cell mass cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of CMG complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 PSF1
    Names
    GINS complex subunit 1 (Psf1 homolog)
    GINS complex subunit 4 (Sld5 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_001163476.1 → NP_001156948.1  DNA replication complex GINS protein PSF1 isoform 2

      See identical proteins and their annotated locations for NP_001156948.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC027537, BQ553304
      UniProtKB/TrEMBL
      Q8K1A2
      Related
      ENSMUST00000140950.8
      Conserved Domains (1) summary
      cd11710
      Location:3 → 130
      GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1

    2. NM_027014.1 → NP_081290.1  DNA replication complex GINS protein PSF1 isoform 1

      See identical proteins and their annotated locations for NP_081290.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK013116, AW122649, BQ553304
      Consensus CDS
      CCDS50743.1
      UniProtKB/Swiss-Prot
      Q9CZ15
      UniProtKB/TrEMBL
      Q6ZQH1
      Related
      ENSMUSP00000028948.5, ENSMUST00000028948.5
      Conserved Domains (2) summary
      cd11710
      Location:3 → 130
      GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1
      COG5230
      Location:1 → 191
      COG5230; Uncharacterized conserved protein [Function unknown]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      150751482..150773200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500133.3 → XP_006500196.1  DNA replication complex GINS protein PSF1 isoform X1

      Conserved Domains (1) summary
      cd11710
      Location:3 → 130
      GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CZ15.1 GenPept UniProtKB/Swiss-Prot:Q9CZ15

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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