Human Gene TSN (uc002tnl.3)
  Description: Homo sapiens translin (TSN), transcript variant 1, mRNA.
RefSeq Summary (NM_004622): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:122,513,121-122,525,428 Size: 12,308 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr2:122,513,356-122,522,943 Size: 9,588 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:122,513,121-122,525,428)mRNA (may differ from genome)Protein (228 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TSN_HUMAN
DESCRIPTION: RecName: Full=Translin; EC=3.1.-.-; AltName: Full=Component 3 of promoter of RISC; Short=C3PO;
FUNCTION: DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots.
FUNCTION: Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand.
SUBUNIT: Ring-shaped heterooctamer of six TSN and two TSNAX subunits, DNA/RNA binding occurs inside the ring.
INTERACTION: Q14161:GIT2; NbExp=2; IntAct=EBI-1044160, EBI-1046878;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
SIMILARITY: Belongs to the translin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TSN
CDC HuGE Published Literature: TSN
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Audiometry, Pure-Tone , Cholesterol , Erectile Dysfunction , Erythrocyte Indices , Heart Rate , Life Expectancy , Maximal Midexpiratory Flow Rate , monocyte chemoattractant protein 1 (66-77) , Respiratory Function Tests , Stroke , Triglycerides , Varicose Veins , Waist-Hip Ratio
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    , , . [PubMed 0]
  2. Attention Deficit Disorder with Hyperactivity
    , , . [PubMed 0]
  3. Attention Deficit Disorder with Hyperactivity
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TSN
Diseases sorted by gene-association score: liposarcoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.63 RPKM in Testis
Total median expression: 703.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.60235-0.522 Picture PostScript Text
3' UTR -698.782485-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002848 - Translin
IPR016069 - Translin_C
IPR016068 - Translin_N

Pfam Domains:
PF01997 - Translin family

SCOP Domains:
74784 - Translin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1J1J - X-ray MuPIT 3PJA - X-ray MuPIT 3QB5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15631
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0042802 identical protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006310 DNA recombination
GO:0016070 RNA metabolic process
GO:0090305 nucleic acid phosphodiester bond hydrolysis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  X95076 - H.sapiens mRNA for translin promoter.
AK315763 - Homo sapiens cDNA, FLJ96876.
AK311410 - Homo sapiens cDNA, FLJ18452.
AK091915 - Homo sapiens cDNA FLJ34596 fis, clone KIDNE2009191, highly similar to TRANSLIN.
BC002359 - Homo sapiens translin, mRNA (cDNA clone MGC:8527 IMAGE:2822564), complete cds.
AK296469 - Homo sapiens cDNA FLJ55086 complete cds, highly similar to Translin.
AK298812 - Homo sapiens cDNA FLJ59957 complete cds, highly similar to Translin.
AK222868 - Homo sapiens mRNA for translin variant, clone: HEP15830.
X78627 - H.sapiens mRNA for translin.
AK307344 - Homo sapiens cDNA, FLJ97292.
JD489860 - Sequence 470884 from Patent EP1572962.
JD493285 - Sequence 474309 from Patent EP1572962.
KJ892322 - Synthetic construct Homo sapiens clone ccsbBroadEn_01716 TSN gene, encodes complete protein.
BT019490 - Homo sapiens translin mRNA, complete cds.
BT019491 - Homo sapiens translin mRNA, complete cds.
JD465259 - Sequence 446283 from Patent EP1572962.
JD271759 - Sequence 252783 from Patent EP1572962.
JD142720 - Sequence 123744 from Patent EP1572962.
JD495145 - Sequence 476169 from Patent EP1572962.
JD350151 - Sequence 331175 from Patent EP1572962.
JD508738 - Sequence 489762 from Patent EP1572962.
JD200041 - Sequence 181065 from Patent EP1572962.
JD453713 - Sequence 434737 from Patent EP1572962.
JD118713 - Sequence 99737 from Patent EP1572962.
JD501960 - Sequence 482984 from Patent EP1572962.
JD369902 - Sequence 350926 from Patent EP1572962.
JD412733 - Sequence 393757 from Patent EP1572962.
JD512687 - Sequence 493711 from Patent EP1572962.
JD471973 - Sequence 452997 from Patent EP1572962.
JD138821 - Sequence 119845 from Patent EP1572962.
JD277577 - Sequence 258601 from Patent EP1572962.
JD482557 - Sequence 463581 from Patent EP1572962.
JD266195 - Sequence 247219 from Patent EP1572962.
JD251526 - Sequence 232550 from Patent EP1572962.
JD306160 - Sequence 287184 from Patent EP1572962.
JD263572 - Sequence 244596 from Patent EP1572962.
JD302520 - Sequence 283544 from Patent EP1572962.
JD297224 - Sequence 278248 from Patent EP1572962.
JD305210 - Sequence 286234 from Patent EP1572962.
JD487082 - Sequence 468106 from Patent EP1572962.
AL122099 - Homo sapiens mRNA; cDNA DKFZp434C1417 (from clone DKFZp434C1417).
JD450931 - Sequence 431955 from Patent EP1572962.
JD436135 - Sequence 417159 from Patent EP1572962.
JD511759 - Sequence 492783 from Patent EP1572962.
JD202932 - Sequence 183956 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15631 (Reactome details) participates in the following event(s):

R-HSA-9023909 C3PO hydrolyzes cleaved passenger strand
R-HSA-426486 Small interfering RNA (siRNA) biogenesis
R-HSA-211000 Gene Silencing by RNA
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_004622, NP_004613, Q15631, Q5U0K7, TSN_HUMAN
UCSC ID: uc002tnl.3
RefSeq Accession: NM_004622
Protein: Q15631 (aka TSN_HUMAN)
CCDS: CCDS33284.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004622.2
exon count: 6CDS single in 3' UTR: no RNA size: 3408
ORF size: 687CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1574.00frame shift in genome: no % Coverage: 99.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.