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    TICRR TOPBP1 interacting checkpoint and replication regulator [ Homo sapiens (human) ]

    Gene ID: 90381, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TICRRprovided by HGNC
    Official Full Name
    TOPBP1 interacting checkpoint and replication regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:28704
    See related
    Ensembl:ENSG00000140534 MIM:613298; AllianceGenome:HGNC:28704
    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
    SLD3; Treslin; C15orf42
    Summary
    Enables chromatin binding activity. Involved in regulation of DNA-templated DNA replication initiation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in bone marrow (RPKM 1.6), testis (RPKM 1.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TICRR in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89575469..89628023)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87331418..87383956)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90118700..90171254)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90029819-90030319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90035105-90035610 Neighboring gene Rh family C glycoprotein Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90119099-90119627 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 Neighboring gene kinesin family member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6801 Neighboring gene Sharpr-MPRA regulatory region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 Neighboring gene perilipin 1 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene peroxisomal biogenesis factor 11 alpha

    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. Quantitative proteomics reveals the basis for the biochemical specificity of the cell-cycle machinery. Pagliuca FW, et al. Mol Cell, 2011 Aug 5. PMID 21816347, Free PMC Article
    2. Treslin, DUE-B, and GEMC1 cannot complement Sld3 mutants in fission yeast. Wang Z, et al. FEMS Yeast Res, 2012 Jun. PMID 22380713, Free PMC Article
    3. Refining the domain architecture model of the replication origin firing factor Treslin/TICRR. Ferreira P, et al. Life Sci Alliance, 2022 May. PMID 35091422, Free PMC Article
    4. The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase. Wittig KA, et al. Nucleic Acids Res, 2021 Oct 11. PMID 34534348, Free PMC Article
    5. Cyclin-dependent kinase regulates the length of S phase through TICRR/TRESLIN phosphorylation. Sansam CG, et al. Genes Dev, 2015 Mar 1. PMID 25737283, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm.
      Title: Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm.
    2. Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
      Title: Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer.
    3. Refining the domain architecture model of the replication origin firing factor Treslin/TICRR.
      Title: Refining the domain architecture model of the replication origin firing factor Treslin/TICRR.
    4. The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase.
      Title: The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase.
    5. Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
      Title: Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
    6. Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
      Title: Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
    7. The conserved C-terminal domain of DUE-B is required for its binding to TopBP1, Treslin, Cdc45, and the MCM2-7 complex, as well as for the efficient loading of Treslin, Cdc45, and TopBP1 on chromatin
      Title: Interaction between DUE-B and Treslin is required to load Cdc45 on chromatin in human cells.
    8. these data uncover two distinct mechanisms by which mutp53 enhances DNA replication: (i) Both contact and conformational mutp53s can bind TopBP1 and attenuate the checkpoint response to replication stress, and (ii) during normal growth, contact (but not conformational) mutp53s can override the Cdk2 requirement to promote replication by facilitating the TopBP1/Treslin interaction.
      Title: Mutant p53 perturbs DNA replication checkpoint control through TopBP1 and Treslin.
    9. The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin.
      Title: Ensa controls S-phase length by modulating Treslin levels.
    10. Variation at rs12913965 may affect the risk for shoulder dislocation by affecting the activity of either TICRR or ISG20.
      Title: A Genetic Marker Associated with Shoulder Dislocation.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41618, MGC45866

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic DNA replication checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic DNA replication checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated DNA replication initiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to ionizing radiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    treslin
    Names
    topBP1-interacting checkpoint and replication regulator
    topBP1-interacting replication-stimulating protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001308025.1 → NP_001294954.1  treslin isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)
      Source sequence(s)
      AC013787, AW627706, GQ227787
      Consensus CDS
      CCDS76791.1
      UniProtKB/Swiss-Prot
      Q7Z2Z1
      Related
      ENSP00000453306.1, ENST00000560985.5
      Conserved Domains (1) summary
      pfam15292
      Location:208 → 1003
      Treslin_N; Treslin N-terminus

    2. NM_152259.4 → NP_689472.3  treslin isoform 2

      See identical proteins and their annotated locations for NP_689472.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC013391, AK123612, AW627706, BX538335, CN285632, DR731357, DR731358
      Consensus CDS
      CCDS10352.2
      UniProtKB/Swiss-Prot
      B2RE07, B3KVV9, D3IUT4, Q7Z2Z1, Q8N4X8, Q8NCH6, Q9BU55
      Related
      ENSP00000268138.7, ENST00000268138.12
      Conserved Domains (1) summary
      pfam15292
      Location:208 → 1004
      Treslin_N; Treslin N-terminus

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89575469..89628023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87331418..87383956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z2Z1.2 GenPept UniProtKB/Swiss-Prot:Q7Z2Z1

    Gene LinkOut

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

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