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

    Gene ID: 90381, updated on 2-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 1.6), testis (RPKM 1.3) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001308025.1NP_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:2081003
      Treslin_N; Treslin N-terminus
    2. NM_152259.4NP_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:2081004
      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)