TSNAX translin associated factor X [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSNAXprovided by HGNC
Official Full Name: translin associated factor Xprovided by HGNC
Primary source: HGNC:HGNC:12380
See related: Ensembl:ENSG00000116918 MIM:602964; AllianceGenome:HGNC:12380
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; TRAX
Summary: This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 19.1), thyroid (RPKM 18.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (231528669..231566524)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (230911903..230949724)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (231664415..231702270)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The associations between cognitive functions and TSNAX genetic variations in patients with schizophrenia.
Title: The associations between cognitive functions and TSNAX genetic variations in patients with schizophrenia.
Conformational alteration in glycan induces phospholipase Cbeta1 activation and angiogenesis.
Title: Conformational alteration in glycan induces phospholipase Cβ1 activation and angiogenesis.
TRAX Provides Neuroprotection for Huntington's Disease Via Modulating a Novel Subset of MicroRNAs.
Title: TRAX Provides Neuroprotection for Huntington's Disease Via Modulating a Novel Subset of MicroRNAs.
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.
TSNAX protein is known to form a brain enriched complex with translin, that can bind single-stranded DNA and RNA through which it is involved in protein regulation.
Title: DISC1-TSNAX and DAOA genes in major depression and citalopram efficacy.
High chimeric TSNAX-DISC1 resulting from intergenic splicing is associated with endometrial carcinoma.
Title: Identification of chimeric TSNAX-DISC1 resulting from intergenic splicing in endometrial carcinoma through high-throughput RNA sequencing.
LIS1 and TSNAX genes are not associated with susceptibility to bipolar I disorder in Chinese Han population.
Title: [Association study of LIS1 and TSNAX genes with bipolar disorder in Chinese Han population].
Data show a novel role of phospholipase Cbeta1 (PLCbeta1) in gene regulation through translin-associated factor X (TRAX) association.
Title: Phospholipase Cβ1 is linked to RNA interference of specific genes through translin-associated factor X.
Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of schizophrenia and bipolar affective disorder
Title: Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population.
TRAX binds to ssDNA and two regions in TRAX, designated TRAXB2 and TRAXB3, mediate nucleic acid binding activity of the trax-translin heteromeric complex.
Title: Identification of nucleic acid binding sites on translin-associated factor X (TRAX) protein.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-58926 (e-PCR)
- UniSTS:94479

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

RH93090 (e-PCR)
- UniSTS:88248

D11S3316 (e-PCR)
- UniSTS:152558

Readthrough TSNAX-DISC1

Readthrough gene: TSNAX-DISC1, Included gene: DISC1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables A2A adenosine receptor binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
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 cell differentiation	IEA Inferred from Electronic Annotation more info
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
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of endoribonuclease complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: translin-associated protein X

Names: translin-like 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.