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    GINS4 GINS complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 84296, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GINS4provided by HGNC
    Official Full Name
    GINS complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:28226
    See related
    Ensembl:ENSG00000147536 MIM:610611; AllianceGenome:HGNC:28226
    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
    SLD5
    Summary
    The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), 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]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in lymph node (RPKM 2.4), appendix (RPKM 2.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GINS4 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (41529261..41545030)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (41802893..41818725)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (41386780..41402549)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27284 Neighboring gene golgin A7 Neighboring gene keratin 18 pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19143 Neighboring gene GPAT4 and GINS4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27287 Neighboring gene uncharacterized LOC124901939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41424977-41425739 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41430689-41430895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27289 Neighboring gene glycerol-3-phosphate acyltransferase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41451733-41452234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41454165-41454665 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:41466108-41467307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27290

    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. Structure and function of the GINS complex, a key component of the eukaryotic replisome. MacNeill SA. Biochem J, 2010 Jan 15. PMID 20070258
    2. Sld5 Ensures Centrosomal Resistance to Congression Forces by Preserving Centriolar Satellites. Kaur M, et al. Mol Cell Biol, 2018 Jan 15. PMID 29061732, Free PMC Article
    3. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. Conte MI, et al. JCI Insight, 2022 Nov 8. PMID 36345943, Free PMC Article
    4. The novel GINS4 axis promotes gastric cancer growth and progression by activating Rac1 and CDC42. Zhu Z, et al. Theranostics, 2019. PMID 31754397, Free PMC Article
    5. Overexpression of GINS4 is associated with poor prognosis and survival in glioma patients. Liu B, et al. Mol Med, 2021 Sep 23. PMID 34556022, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-133a-3p Inhibits Lung Adenocarcinoma Development and Cisplatin Resistance through Targeting GINS4.
      Title: MicroRNA-133a-3p Inhibits Lung Adenocarcinoma Development and Cisplatin Resistance through Targeting GINS4.
    2. The Molecular Pathogenesis of Tumor-Suppressive miR-486-5p and miR-486-3p Target Genes: GINS4 Facilitates Aggressiveness in Lung Adenocarcinoma.
      Title: The Molecular Pathogenesis of Tumor-Suppressive miR-486-5p and miR-486-3p Target Genes: GINS4 Facilitates Aggressiveness in Lung Adenocarcinoma.
    3. Hsa_circ_0008673 Promotes Breast Cancer Progression by MiR-578/GINS4 Axis.
      Title: Hsa_circ_0008673 Promotes Breast Cancer Progression by MiR-578/GINS4 Axis.
    4. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
      Title: Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
    5. 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.
    6. GINS4 might be a novel prognostic immune-related biomarker of not only esophageal squamous cell carcinoma and other cancers.
      Title: GINS4 might be a novel prognostic immune-related biomarker of not only esophageal squamous cell carcinoma and other cancers.
    7. Overexpression of GINS4 is associated with poor prognosis and survival in glioma patients.
      Title: Overexpression of GINS4 is associated with poor prognosis and survival in glioma patients.
    8. Multiple RNA virus matrix proteins interact with SLD5 to manipulate host cell cycle.
      Title: Multiple RNA virus matrix proteins interact with SLD5 to manipulate host cell cycle.
    9. The novel GINS4 axis promotes gastric cancer growth and progression by activating Rac1 and CDC42.
      Title: The novel GINS4 axis promotes gastric cancer growth and progression by activating Rac1 and CDC42.
    10. Influenza virus matrix protein M1 interacts with SLD5 to block host cell cycle.
      Title: Influenza virus matrix protein M1 interacts with SLD5 to block host cell cycle.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of GINS complex subunit 4 (GINS4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC14799

    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 double-strand break repair via break-induced replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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 SLD5
    Names
    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_032336.3 → NP_115712.1  DNA replication complex GINS protein SLD5

      See identical proteins and their annotated locations for NP_115712.1

      Status: VALIDATED

      Source sequence(s)
      AC009630, BC005995
      Consensus CDS
      CCDS6116.1
      UniProtKB/Swiss-Prot
      B2R8H5, D3DSY0, Q8N648, Q9BRT9
      UniProtKB/TrEMBL
      E5RFF9
      Related
      ENSP00000276533.3, ENST00000276533.4
      Conserved Domains (2) summary
      cd11711
      Location:26 → 146
      GINS_A_Sld5; Alpha-helical domain of GINS complex protein Sld5
      cd21692
      Location:165 → 223
      GINS_B_Sld5; beta-strand (B) domain of GINS complex protein Sld5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      41529261..41545030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273659.5 → XP_005273716.1  DNA replication complex GINS protein SLD5 isoform X1

      See identical proteins and their annotated locations for XP_005273716.1

      UniProtKB/Swiss-Prot
      B2R8H5, D3DSY0, Q8N648, Q9BRT9
      UniProtKB/TrEMBL
      E5RFF9
      Related
      ENSP00000428754.1, ENST00000518671.5
      Conserved Domains (2) summary
      cd11711
      Location:26 → 146
      GINS_A_Sld5; Alpha-helical domain of GINS complex protein Sld5
      cd21692
      Location:165 → 223
      GINS_B_Sld5; beta-strand (B) domain of GINS complex protein Sld5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      41802893..41818725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361352.1 → XP_054217327.1  DNA replication complex GINS protein SLD5 isoform X1

      UniProtKB/Swiss-Prot
      B2R8H5, D3DSY0, Q8N648, Q9BRT9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRT9.1 GenPept UniProtKB/Swiss-Prot:Q9BRT9

    Gene LinkOut

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

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