TSN translin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biochemical characterization of clinically relevant mutations of human Translin.
Title: Biochemical characterization of clinically relevant mutations of human Translin.
Functional characterization of testis-brain RNA-binding protein, TB-RBP/Translin, in translational regulation.
Title: Functional characterization of testis-brain RNA-binding protein, TB-RBP/Translin, in translational regulation.
Role of amino acid residues important for nucleic acid binding in human Translin
Title: Role of amino acid residues important for nucleic acid binding in human Translin.
Translin and Trax control telomere-associated transcript levels in human cells in a telomere-specific fashion.
Title: Translin and Trax differentially regulate telomere-associated transcript homeostasis.
results indicate that UPF1 can dissociate miRNAs from their mRNA targets, making the miRNAs susceptible to Tudor-staphylococcal/micrococcal-like nuclease (TSN)-mediated miRNA decay.
Title: UPF1 helicase promotes TSN-mediated miRNA decay.
These findings indicate that miRNA depletion in dicer deficiency is due to the combined loss of miRNA-generating activity and catabolic function of TN/TX.
Title: Rescuing dicer defects via inhibition of an anti-dicing nuclease.
this study argues against a mechanism by which translin octamers may "dissociate and reassemble" upon RNA binding and report a novel "open"-barrel structure of human translin revealing a feasible DNA/RNA entryway into the cavity.
Title: A novel open-barrel structure of octameric translin reveals a potential RNA entryway.
The selectivity of PLCbeta toward certain genes lies in the rate at which the RNA is hydrolyzed by C3PO.
Title: Hydrolysis rates of different small interfering RNAs (siRNAs) by the RNA silencing promoter complex, C3PO, determines their regulation by phospholipase Cβ.
The data demonstrates that the configuration of translin and translin-RNA complexes in solution is a dimer of tetramers, which undergoes conformational transitions.
Title: Conformational transitions in human translin enable nucleic acid binding.
Translin B3 motif, corresponding to TRAX B3 residues, contributes towards its DNA binding activity.
Title: Identification of nucleic acid binding sites on translin-associated factor X (TRAX) protein.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

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 EBI GWAS CatalogPubMed
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH70915 (e-PCR)
- UniSTS:52814

RH46068 (e-PCR)
- UniSTS:62295

D2S2498 (e-PCR)
- UniSTS:40654

A002S45 (e-PCR)
- UniSTS:40183

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

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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)

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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)

NM_001261401.2 → NP_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:10 → 126

Translin-like; Translin and translin-associated factor-X (TRAX)
NM_004622.3 → NP_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:10 → 216

Translin; also known as TB-RBP (testis brain RNA-binding protein)

RNA

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
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
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
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