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

Gene ID: 84296, updated on 2-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
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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 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)

Genotypes

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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