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    TRIR telomerase RNA component interacting RNase [ Homo sapiens (human) ]

    Gene ID: 79002, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRIRprovided by HGNC
    Official Full Name
    telomerase RNA component interacting RNaseprovided by HGNC
    Primary source
    HGNC:HGNC:28424
    See related
    Ensembl:ENSG00000123144 AllianceGenome:HGNC:28424
    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
    TERCIR; fSAP18; C19orf43
    Summary
    Enables 3'-5' exonuclease activity and 5'-3' exonuclease activity. Involved in rRNA catabolic process. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 63.1), colon (RPKM 57.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRIR in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12730640..12734684, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12855132..12859177, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12841454..12845498, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12814259-12814867 Neighboring gene transportin 2 Neighboring gene small nucleolar RNA, C/D box 135 Neighboring gene small nucleolar RNA, C/D box 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10158 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12832661-12833279 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833280-12833897 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833898-12834516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12834517-12835133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12842300-12842847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10161 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated TRIR regulatory element Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12855878-12856378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10166 Neighboring gene bestrophin 2

    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. Identification of an RNase that preferentially cleaves A/G nucleotides. Xie J, et al. Sci Rep, 2017 Mar 21. PMID 28322335, Free PMC Article
    2. Defining the NSD2 interactome: PARP1 PARylation reduces NSD2 histone methyltransferase activity and impedes chromatin binding. Huang X, et al. J Biol Chem, 2019 Aug 16. PMID 31248990, Free PMC Article
    3. Transcriptional repressor ZBTB1 promotes chromatin remodeling and translesion DNA synthesis. Kim H, et al. Mol Cell, 2014 Apr 10. PMID 24657165, Free PMC Article
    4. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma. Chuah YH, et al. Cell Death Differ, 2023 Aug. PMID 37468549, Free PMC Article
    5. Composition and three-dimensional EM structure of double affinity-purified, human prespliceosomal A complexes. Behzadnia N, et al. EMBO J, 2007 Mar 21. PMID 17332742, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2803

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 5'-3' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5'-3' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in rRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    telomerase RNA component interacting RNase
    Names
    My029 protein
    exoribonuclease TRIR
    uncharacterized protein C19orf43

    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_001329738.2 → NP_001316667.1  telomerase RNA component interacting RNase isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC000216, BQ668685, BU599327
      Consensus CDS
      CCDS86709.1
      UniProtKB/TrEMBL
      B2RE11, K7EN60
      Related
      ENSP00000466801.1, ENST00000592273.5

    2. NM_001329739.2 → NP_001316668.1  telomerase RNA component interacting RNase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded protein (isoform 3) has a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC018761
      Consensus CDS
      CCDS86710.1
      UniProtKB/TrEMBL
      K7ELS0
      Related
      ENSP00000466196.1, ENST00000588213.1

    3. NM_024038.4 → NP_076943.1  telomerase RNA component interacting RNase isoform 1

      See identical proteins and their annotated locations for NP_076943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (1).
      Source sequence(s)
      BC000216
      Consensus CDS
      CCDS12279.1
      UniProtKB/Swiss-Prot
      Q9BQ61
      UniProtKB/TrEMBL
      B2RE11
      Related
      ENSP00000242784.3, ENST00000242784.5

    RNA

    1. NR_138095.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC000216, BM554534, BQ668685
      Related
      ENST00000591254.1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12730640..12734684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12855132..12859177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ61.1 GenPept UniProtKB/Swiss-Prot:Q9BQ61

    Gene LinkOut

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

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