Format

Send to:

Choose Destination

TSN translin [ Homo sapiens (human) ]

Gene ID: 7247, updated on 3-Jan-2019

Summary

Official Symbol
TSNprovided by HGNC
Official Full Name
translinprovided by HGNC
Primary source
HGNC:HGNC:12379
See related
Ensembl:ENSG00000211460 MIM:600575
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

Genomic context

See TSN in Genome Data Viewer
Location:
2q14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (121755545..121767853)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (122513121..122525429)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NIFK antisense RNA 1 Neighboring gene nucleophosmin 1 pseudogene 32 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 Neighboring gene uncharacterized LOC105373590 Neighboring gene long intergenic non-protein coding RNA 1823

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
NHGRI GWA Catalog

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Gene Silencing by RNA, organism-specific biosystem (from REACTOME)
    Gene Silencing by RNA, organism-specific biosystemIn this module, the biology of various types of regulatory non-coding RNAs are described. Currently, biogenesis and functions of small interfering RNAs (siRNAs) and microRNAs are annotated.
  • Small interfering RNA (siRNA) biogenesis, organism-specific biosystem (from REACTOME)
    Small interfering RNA (siRNA) biogenesis, organism-specific biosystemSmall interfering RNAs (siRNAs) are 21-25 nucleotide single-stranded RNAs produced by cleavage of longer double-stranded RNAs by the enzyme DICER1 within the RISC loading complex containing DICER1, a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
endoribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
mRNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA recombination TAS
Traceable Author Statement
more info
PubMed 
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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_001261401.1NP_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
    Q15631
    Related
    ENSP00000374332.3, ENST00000389682.7
    Conserved Domains (1) summary
    cd14819
    Location:10216
    Translin; Translin, also known as TB-RBP (testis brain RNA-binding protein)

RNA

  1. NR_048556.1 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_048557.1 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_048558.1 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_048559.1 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: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    121755545..121767853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center