Q9DC40
Gene name |
Telo2 (Kiaa0683) |
Protein name |
Telomere length regulation protein TEL2 homolog |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:71718 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9DC40
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CKT | X-ray | 300 A | C/D | 489-496 | PDB |
| 4CSE | X-ray | 330 A | C/D | 488-496 | PDB |
| AF-Q9DC40-F1 | Predicted | AlphaFoldDB |
63 variants for Q9DC40
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs13471498 | 18 | I>T | No | EVA | |
| rs215185646 | 18 | I>V | No | EVA | |
| rs3389449844 | 29 | L>P | No | EVA | |
| rs3389435499 | 35 | L>Q | No | EVA | |
| rs251273966 | 43 | E>K | No | EVA | |
| rs3407438638 | 79 | P>T | No | EVA | |
| rs3389449855 | 80 | G>C | No | EVA | |
| rs260473419 | 80 | G>D | No | EVA | |
| rs3389440756 | 84 | E>D | No | EVA | |
| rs227959182 | 85 | R>Q | No | EVA | |
| rs3389443403 | 91 | F>V | No | EVA | |
| rs3389421413 | 98 | Q>P | No | EVA | |
| rs3389459460 | 102 | V>M | No | EVA | |
| rs3389421407 | 110 | T>I | No | EVA | |
| rs3389453959 | 112 | G>D | No | EVA | |
| rs3389391276 | 135 | A>T | No | EVA | |
| rs3389421425 | 141 | C>Y | No | EVA | |
| rs3389391236 | 148 | S>G | No | EVA | |
| rs3389444700 | 157 | L>I | No | EVA | |
| rs3389432942 | 171 | L>F | No | EVA | |
| rs33575363 | 205 | D>G | No | EVA | |
| rs3389443360 | 220 | K>E | No | EVA | |
| rs33779993 | 272 | V>I | No | EVA | |
| rs3389443290 | 283 | R>* | No | EVA | |
| rs3389444717 | 289 | V>M | No | EVA | |
| rs50122533 | 301 | R>C | No | EVA | |
| rs3389391247 | 302 | K>M | No | EVA | |
| rs3389432930 | 321 | Y>H | No | EVA | |
| rs3389421474 | 342 | T>I | No | EVA | |
| rs3389432907 | 370 | H>L | No | EVA | |
| rs33782498 | 372 | G>R | No | EVA | |
| rs233076040 | 408 | I>T | No | EVA | |
| rs3407589497 | 438 | L>M | No | EVA | |
| rs238883375 | 443 | P>L | No | EVA | |
| rs33784084 | 446 | A>V | No | EVA | |
| rs239322246 | 447 | G>S | No | EVA | |
| rs48725187 | 461 | V>A | No | EVA | |
| rs33784088 | 465 | S>P | No | EVA | |
| rs3389449840 | 467 | V>E | No | EVA | |
| rs259523770 | 474 | V>M | No | EVA | |
| rs3407427142 | 474 | V>P | No | EVA | |
| rs3389440776 | 505 | R>I | No | EVA | |
| rs33776714 | 509 | S>N | No | EVA | |
| rs230613679 | 512 | E>Q | No | EVA | |
| rs33776715 | 520 | V>M | No | EVA | |
| rs3389403415 | 525 | T>R | No | EVA | |
| rs33776718 | 531 | R>H | No | EVA | |
| rs3389411942 | 543 | V>L | No | EVA | |
| rs33776719 | 548 | T>A | No | EVA | |
| rs3389403473 | 572 | E>K | No | EVA | |
| rs3389443332 | 622 | Q>E | No | EVA | |
| rs265247713 | 638 | P>S | No | EVA | |
| rs245263695 | 639 | P>L | No | EVA | |
| rs3389391261 | 640 | V>L | No | EVA | |
| rs33777416 | 651 | V>I | No | EVA | |
| rs3389444702 | 662 | W>* | No | EVA | |
| rs33777417 | 664 | V>M | No | EVA | |
| rs3389432962 | 768 | R>S | No | EVA | |
| rs3389435423 | 769 | R>D | No | EVA | |
| rs3389432990 | 774 | A>T | No | EVA | |
| rs13471497 | 775 | V>M | No | EVA | |
| rs33779306 | 812 | E>K | No | EVA | |
| rs3389451553 | 824 | L>I | No | EVA |
No associated diseases with Q9DC40
1 regional properties for Q9DC40
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Telomere length regulation protein, conserved domain | 513 - 621 | IPR019337 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| ASTRA complex | A protein complex that is part of the chromatin remodeling machinery; the acronym stands for ASsembly of Tel, Rvb and Atm-like kinase. In Saccharomyces cerevisiae this complex includes Rvb1p, Rvb2p, Tra1p, Tel2p, Asa1p, Ttilp and Tti2p. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nuclear periphery | The portion of the nuclear lumen proximal to the inner nuclear membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| TORC1 complex | A protein complex that contains at least TOR (target of rapamycin) and Raptor (regulatory-associated protein of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of S6K. In Saccharomyces, the complex contains Kog1p, Lst8p, Tco89p, and either Tor1p or Tor2p. |
| TORC2 complex | A protein complex that contains at least TOR (target of rapamycin) and Rictor (rapamycin-insensitive companion of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of PKB (also called AKT). In Saccharomyces, the complex contains Avo1p, Avo2p, Tsc11p, Lst8p, Bit61p, Slm1p, Slm2p, and Tor2p. |
| TTT complex | A protein complex responsible for the stabilisation of protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex can also be found as part of the ASTRA complex (GO:0070209). |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| Hsp90 protein binding | Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| telomeric DNA binding | Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of protein serine/threonine kinase activity | Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. |
| positive regulation of TORC1 signaling | Any process that activates or increases the frequency, rate or extent of TORC1 signaling. |
| positive regulation of TORC2 signaling | Any process that activates or increases the frequency, rate or extent of TORC2 signaling. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
| telomere maintenance via telomerase | The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPALSAVRL | TVQEAIHILS | SSEDAGHILS | TLGTLKRYLG | GTEDPVLPEE | KEEFATVHFS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVLRCLVSKL | SPGWLELSPG | GQLERLWESF | FLDGPPDQAF | LVLMEAIEST | AGPSFRLMKM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AQLLDTFLST | GRVAALMEEQ | CRPQTKPSFP | LFQETLLSKV | VGLPDLLGNC | LQRDNLTQFF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQNYFPLLGQ | EVVQALKAVV | NFLQDGLDCS | VSFVSRVLGK | VCIQGRKREI | LSVLVPQLTV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LTQDSCLWQR | VCWRLVEQVP | DRAVEAVLTG | LVEAAPRPEV | LSRLLGNLVV | KNKKARFVVT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RKLLLLQYQH | TTPMVQSLLG | YLALDSQRRP | LLIQVLKELL | ETWGCSSAVR | HTPLEQQCYI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SKAILVCLAH | LGEPELQDIR | DELLASMMAG | VKCRLDSSLP | PVRRLGMIVA | EVISSRIHPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPLLKFQYED | DEMSRELLAL | ATPEPAGDCS | SVSRGPSPAP | VDTESPVEMP | EKAVESDVPP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TQPQGSDSEL | DSDDEFIPYD | MSGDRELKSS | KEPLYIRDCV | EALTTSEDME | RWEASLKGLE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLVYRSPTAT | REVSVELAKV | LLHLEEKTCV | AEFEQLRQSA | LVAVTVTDPE | QVAKYLTSQF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YGLNYSLRQR | MDILDVLVLA | AQALSRPKSL | QRRSQHGPPV | PGTMCSPALA | VSQTGNVAAP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DWQVVVEERI | RSKTRRFSKG | CPQRELSGVP | NEFSSVAGYF | FFPLLQHFDR | PLVTFDLLGD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DQLVLGRLTH | TLASLMYLAV | NTTVAVPMGK | ALLEFVWALR | FHVDIYVRRG | LLSAVSSVLL |
| 790 | 800 | 810 | 820 | 830 | |
| SVPTERLLGD | LPDELLEARS | WLADVAEKDV | DEDCRELAVR | ALLLLERLKD | KLLSSSSPQP |