Q570Y9
Gene name |
Deptor (Depdc6, Kiaa4200) |
Protein name |
DEP domain-containing mTOR-interacting protein |
Names |
DEP domain-containing protein 6 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:97998 |
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
1 structures for Q570Y9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q570Y9-F1 | Predicted | AlphaFoldDB |
19 variants for Q570Y9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs238761121 | 7 | G>V | No | EVA | |
| rs45948680 | 11 | S>G | No | EVA | |
| rs3389354449 | 63 | C>G | No | EVA | |
| rs3389358903 | 96 | G>D | No | EVA | |
| rs254664020 | 125 | A>P | No | EVA | |
| rs48423113 | 128 | S>N | No | EVA | |
| rs3405608463 | 144 | M>R | No | EVA | |
| rs47338588 | 149 | T>I | No | EVA | |
| rs3406009221 | 172 | D>E | No | EVA | |
| rs3389358921 | 203 | S>T | No | EVA | |
| rs3404606617 | 218 | R>I | No | EVA | |
| rs3406085318 | 218 | R>S | No | EVA | |
| rs3406009253 | 219 | M>L | No | EVA | |
| rs3406174216 | 222 | R>G | No | EVA | |
| rs3389367129 | 224 | R>M | No | EVA | |
| rs258587596 | 234 | T>K | No | EVA | |
| rs3389355553 | 293 | S>G | No | EVA | |
| rs3389371487 | 348 | K>E | No | EVA | |
| rs3389363011 | 408 | D>E | No | EVA |
2 associated diseases with Q570Y9
[MIM: 276904]: Usher syndrome 1C (USH1C)
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269|PubMed:10973247}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 602092]: Deafness, autosomal recessive, 18A (DFNB18A)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:12107438}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269|PubMed:10973247}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:12107438}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q570Y9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PB1 domain | 18 - 109 | IPR000270 |
| domain | Protein kinase domain | 166 - 419 | IPR000719 |
| active_site | Serine/threonine-protein kinase, active site | 279 - 291 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 172 - 195 | IPR017441 |
| domain | Dual specificity mitogen-activated protein kinase kinase 5, PB1 domain | 17 - 107 | IPR034851 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of cell size | Any process that reduces cell size. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of TOR signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| negative regulation of TORC2 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC2 signaling. |
| regulation of extrinsic apoptotic signaling pathway | Any process that modulates the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEGSSGGSG | SSDSNAGGSG | GVQQRELERM | AEVLVTGEQL | RLRLHEEKVI | KDRRHHLKTY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNCFVAKELI | DWLIEHKEAS | DRETAIKLMQ | KLADRGIIHH | VCDEHKEFKD | VKLFYRFRKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DGTFALDSEV | KAFMRGQRLY | EKLMSPETTL | LQPREEEGVK | YERTFMASEF | LDWLVQEGEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTRKEAEQLC | HRLMDHGIIQ | HVSNKHPFVD | SNLLYQFRMN | FRRRRRLMEL | LNETSPSSQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| THDSPFCLRK | QSHDSRKSTS | FMSVSPSKEI | KIVSAVRRSS | MSSCGSSGYF | SSSPTLSSSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVLCNPKSVL | KRPVTSEELL | TPGAPYARKT | FTIVGDAVGW | GFVVRGSKPC | HIQAVDPSGP |
| 370 | 380 | 390 | 400 | ||
| AAAAGMKVCQ | FVVSVNGLNV | LNVDYRTVSN | LILTGPRTIV | MEVMEELDC |