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    TSN translin [ Homo sapiens (human) ]

    Gene ID: 7247, updated on 9-Dec-2024

    Summary

    Official Symbol
    TSNprovided by HGNC
    Official Full Name
    translinprovided by HGNC
    Primary source
    HGNC:HGNC:12379
    See related
    Ensembl:ENSG00000211460 MIM:600575; AllianceGenome:HGNC:12379
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3PO; RCHF1; TBRBP; TRSLN; BCLF-1; REHF-1
    Summary
    This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in testis (RPKM 26.5), brain (RPKM 20.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TSN in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (121755651..121767853)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (122190928..122203130)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (122513227..122525429)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NIFK antisense RNA 1 Neighboring gene nucleophosmin 1 pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11923 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:122533206-122534180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:122534181-122535155 Neighboring gene uncharacterized LOC105373590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:122547721-122548382 Neighboring gene long intergenic non-protein coding RNA 1823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16473

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog
    Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulatory ncRNA-mediated post-transcriptional gene silencing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in siRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    part_of endoribonuclease complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    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
     

    General protein information

    Preferred Names
    translin
    Names
    component 3 of promoter of RISC
    recombination hotspot associated factor
    recombination hotspot-binding protein
    testis brain-RNA binding 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_001261401.2NP_001248330.1  translin isoform 2

      See identical proteins and their annotated locations for NP_001248330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1, which results in a frameshift and a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK091915, AK296469, AL122099, DA772798
      Consensus CDS
      CCDS58723.1
      UniProtKB/Swiss-Prot
      Q15631
      UniProtKB/TrEMBL
      B3KRM8
      Related
      ENSP00000437728.1, ENST00000536142.5
      Conserved Domains (1) summary
      cl00957
      Location:10126
      Translin-like; Translin and translin-associated factor-X (TRAX)
    2. NM_004622.3NP_004613.1  translin isoform 1

      See identical proteins and their annotated locations for NP_004613.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC018737
      Consensus CDS
      CCDS33284.1
      UniProtKB/Swiss-Prot
      B7Z3X8, Q15631, Q5U0K7
      UniProtKB/TrEMBL
      Q53GR3
      Related
      ENSP00000374332.3, ENST00000389682.8
      Conserved Domains (1) summary
      cd14819
      Location:10216
      Translin; also known as TB-RBP (testis brain RNA-binding protein)

    RNA

    1. NR_048556.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091915, AL122099, DA523145, DA772798
    2. NR_048557.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple exons in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091915, AL122099, BP289175, DA772798
    3. NR_048558.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks multiple exons in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091915, AK311410, AL122099, DA772798
    4. NR_048559.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple exons and contains an additional segment in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091915, AL122099, BP309328, DA772798

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      121755651..121767853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      122190928..122203130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)