| Gene Information | |
|---|---|
| Gene Name | SETX |
| Organism | Homo sapiens (Human) |
| Gene Length | 2677 |
| Protein Names | Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000107290 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q7Z333 |
| Gene Card | SETX |
| Uniprot ID | Q7Z333 |
| Pfam | PF13086; PF13087 |
| In ASD | no |
| Allosteric Prediction | no (-0.414080049) |
| Ortholog in Animals | Alpaca_ SETX ( ortholog_one2one ) Dog_ SETX ( ortholog_one2one ) GuineaPig_ SETX ( ortholog_one2one ) Macaque_ SETX ( ortholog_one2one ) Mouse_ Setx ( ortholog_one2one ) Pig_ SETX ( ortholog_one2one ) Rat_ Setx ( ortholog_one2one ) Rabbit_ SETX ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | AQR, UPF1, DNA2, IGHMBP2, HELZ, ZNFX1, MOV10, HELZ2, MOV10L1, CT55 |
| Tissue | NA |
| Tissue Specificity | Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus). {ECO:0000269|PubMed:14770181, ECO:0000269|PubMed:15106121, ECO:0000269|PubMed:16644229, ECO:0000269|PubMed:17562789}. |
| Pharmacological Animal Models | 0.025380(Chimpanzee);0.022525(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs28941475 rs997473183 rs753713810 rs1564548971 rs1422277504 rs29001665 rs29001584 rs1564547645 rs1320071128 rs116205032 rs116333061 rs882709 rs61742937 rs12352982 rs3739922 rs1185193 rs12344006 rs1183768 rs267607044 rs11243731 rs543573 rs112089123 rs762175796 rs2296871 rs2296871 rs121434379 rs746525639 rs121434378 rs28940290 rs1471824334 rs1420833435 rs151117904 rs1056899 rs3739927 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:24105744}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17562789}. Nucleus, nucleolus {ECO:0000269|PubMed:17562789}. Cytoplasm {ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21576111}. Chromosome {ECO:0000269|PubMed:23149945}. Chromosome, telomere {ECO:0000269|PubMed:21112256}. Cell projection, axon {ECO:0000269|PubMed:21576111}. Cell projection, growth cone {ECO:0000269|PubMed:21576111}. Note=May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. {ECO:0000250|UniProtKB:A2AKX3, ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21112256, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:23149945, ECO:0000269|PubMed:24105744}. |
| Mouse PG classification | LPG |
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