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    GINS1 GINS complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 9837, updated on 7-Apr-2024

    Summary

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    Official Symbol
    GINS1provided by HGNC
    Official Full Name
    GINS complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:28980
    See related
    Ensembl:ENSG00000101003 MIM:610608; AllianceGenome:HGNC:28980
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSF1; IMD55
    Summary
    The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in testis (RPKM 4.5), lymph node (RPKM 2.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25407673..25448563)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25472775..25513638)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25388309..25429199)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12746 Neighboring gene glycogen phosphorylase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25274716-25275238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25276284-25276805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25280703-25281254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25281255-25281805 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:25289826-25291025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25297613-25298222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17667 Neighboring gene abhydrolase domain containing 12, lysophospholipase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25310906-25311427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337131-25337731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337732-25338331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12752 Neighboring gene uncharacterized LOC105372581 Neighboring gene MPRA-validated peak4176 silencer Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17669 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25388698-25389455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418017-25418688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418689-25419360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25457461-25457961 Neighboring gene ninein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25483989-25484500 Neighboring gene Sharpr-MPRA regulatory region 10548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25506669-25507224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25507225-25507779 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25513199-25514199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25529495-25530318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25541385-25541914 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:25545021-25545520 Neighboring gene Sharpr-MPRA regulatory region 10614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12753 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:25582716-25583915 Neighboring gene RNA, U6atac small nuclear 17, 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. Up-regulation of GINS1 highlighted a good diagnostic and prognostic potential of survival in three different subtypes of human cancer. Ahmad M, et al. Braz J Biol, 2021. PMID 34852135
    2. Induced expression of GINS complex is an essential step for reactivation of quiescent stem-like tumor cells within the peri-necrotic niche in human glioblastoma. Kimura T, et al. J Cancer Res Clin Oncol, 2019 Feb. PMID 30465075, Free PMC Article
    3. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. Cottineau J, et al. J Clin Invest, 2017 May 1. PMID 28414293, Free PMC Article
    4. [Expression and clinical significance of GINS complex in colorectal cancer]. Wei HB, et al. Zhonghua Wei Chang Wai Ke Za Zhi, 2011 Jun. PMID 21713706
    5. Up-regulation of PSF1 promotes the growth of breast cancer cells. Nakahara I, et al. Genes Cells, 2010 Oct. PMID 20825491

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription Factor E2F1 Enhances Hepatocellular Carcinoma Cell Proliferation and Stemness by Activating GINS1.
      Title: Transcription Factor E2F1 Enhances Hepatocellular Carcinoma Cell Proliferation and Stemness by Activating GINS1.
    2. A Novel Tumor-Promoting Role for Nuclear Factor IX in Glioblastoma Is Mediated through Transcriptional Activation of GINS1.
      Title: A Novel Tumor-Promoting Role for Nuclear Factor IX in Glioblastoma Is Mediated through Transcriptional Activation of GINS1.
    3. 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.
    4. MALAT1 modulated FOXP3 ubiquitination then affected GINS1 transcription and drived NSCLC proliferation.
      Title: MALAT1 modulated FOXP3 ubiquitination then affected GINS1 transcription and drived NSCLC proliferation.
    5. Up-regulation of GINS1 highlighted a good diagnostic and prognostic potential of survival in three different subtypes of human cancer.
      Title: Up-regulation of GINS1 highlighted a good diagnostic and prognostic potential of survival in three different subtypes of human cancer.
    6. 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.
    7. High GINS1 expression is associated with reactivation of quiescent stem-like tumor cells within the peri-necrotic niche in glioblastoma.
      Title: Induced expression of GINS complex is an essential step for reactivation of quiescent stem-like tumor cells within the peri-necrotic niche in human glioblastoma.
    8. 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.
    9. Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency.
      Title: Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
    10. PSF1 mRNA expression was an independent factor associated with prognosis of colorectal cancer.
      Title: [Expression and clinical significance of GINS complex in colorectal cancer].
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined immunodeficiency due to GINS1 deficiency
    MedGen: C5568132 OMIM: 617827 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    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)

    Genotypes

    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

    • KIAA0186

    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 strand elongation involved in mitotic DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 PSF1
    Names
    GINS complex subunit 1 (Psf1 homolog)
    partner of sld five-1

    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_001410830.1 → NP_001397759.1  DNA replication complex GINS protein PSF1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL031672, AL353812
      Consensus CDS
      CCDS93022.1
      UniProtKB/TrEMBL
      A0A8Q3WLL7
      Related
      ENSP00000512884.1, ENST00000696804.1

    2. NM_001410831.1 → NP_001397760.1  DNA replication complex GINS protein PSF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL031672, AL353812
      Consensus CDS
      CCDS93023.1
      UniProtKB/TrEMBL
      A0A8Q3WLJ3
      Related
      ENSP00000512885.1, ENST00000696806.1

    3. NM_021067.5 → NP_066545.3  DNA replication complex GINS protein PSF1 isoform 1

      See identical proteins and their annotated locations for NP_066545.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL031672, AL353812, BP290581, D80008
      Consensus CDS
      CCDS33451.1
      UniProtKB/Swiss-Prot
      Q14691, Q9NQE2, Q9NQI7
      UniProtKB/TrEMBL
      A0A8Q3SJ10
      Related
      ENSP00000262460.4, ENST00000262460.5
      Conserved Domains (2) summary
      cd11710
      Location:3 → 130
      GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1
      cd21696
      Location:146 → 194
      GINS_B_Psf1; beta-strand (B) domain of GINS complex protein Psf1

    RNA

    1. NR_134574.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294593, AL031672, AL353812, BP290581
      Related
      ENST00000696793.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      25407673..25448563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440625.1 → XP_047296581.1  DNA replication complex GINS protein PSF1 isoform X1

    2. XM_017028162.2 → XP_016883651.1  DNA replication complex GINS protein PSF1 isoform X2

      UniProtKB/TrEMBL
      A0A8Q3WLK7
      Related
      ENSP00000512869.1, ENST00000484893.2
      Conserved Domains (2) summary
      cd11710
      Location:1 → 95
      GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1
      COG5230
      Location:36 → 159
      COG5230; Uncharacterized conserved protein [Function unknown]

    RNA

    1. XR_007067484.1 RNA Sequence

    2. XR_244227.5 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      25472775..25513638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324296.1 → XP_054180271.1  DNA replication complex GINS protein PSF1 isoform X1

    2. XM_054324297.1 → XP_054180272.1  DNA replication complex GINS protein PSF1 isoform X2

      UniProtKB/TrEMBL
      A0A8Q3WLK7

    RNA

    1. XR_008485319.1 RNA Sequence

    2. XR_008485320.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14691.1 GenPept UniProtKB/Swiss-Prot:Q14691

    Gene LinkOut

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

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