| Tbio | DEP domain-containing protein 5 |
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Comments
| Disease | Target Count |
|---|---|
| Epilepsy, Partial, with Variable Foci | 1 |
| Hepatitis C, Chronic | 6 |
| Liver carcinoma | 217 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Attention deficit hyperactivity disorder | 156 | 0.0 | 1.0 |
| Hepatitis C | 90 | 0.0 | 2.0 |
| Disease | Target Count |
|---|---|
| Epilepsy, familial focal, with variable foci | 1 |
| Epilepsy, familial temporal lobe, 1 | 3 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | EggNOG Inparanoid |
| Chicken | OMA EggNOG |
| Anole lizard | EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
| S.cerevisiae | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26517016 | DEPDC5 variants increase fibrosis progression in European subjects with chronic HCV infection. Our findings suggest that DEPDC5 down-regulation may contribute to HCV-related fibrosis by increasing MMP2 synthesis through the beta-catenin pathway |
| 26216793 | This study found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies. |
| 25964426 | This revealed four patients to have two or more tumors that were clonally related, all of which lacked MED12 mutations. DEPDC5 was discovered as a novel tumor suppressor gene playing a role in the progression of uterine leiomyomas. |
| 25764692 | MICA and DEPDC5 SNPs were found to be strongly associated with HCV-induced HCC. |
| 25623524 | Truncating DEPDC5 mutations were found in all four French families with focal cortical dysplasia and focal epilepsy. |
| 25599672 | An association was made for DEPDC5 with sporadic focal cortical dysplasia and also hemimegalencephaly. |
| 25551790 | Genetic variations in DEPDC5 gene region may influence HCV-associated liver cirrhosis and/or hepatocellular carcinoma. development. |
| 25366275 | The effects of 10 DEPDC5 variants identified in individuals with focal epilepsy and two DEPDC5 variants identified in serous ovarian tumors, on TORC1 signaling and GATOR-1 complex formation. |
| 25194487 | This chapter focuses on DEPDC5, a newly identified gene in autosomal dominant focal epilepsies [review] |
| 25032264 | PAPL, IL10RB and DEPDC5 polymorphisms have an impact on progression of hepatitis B virus-related liver disease. |
| More... |
MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVD 1 - 70 QTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQ 71 - 140 AGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEK 141 - 210 NCSHEVTVVLFSRTFYDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQ 211 - 280 YPVLVRLEQAEGFPQGDNSTSAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLM 281 - 350 ILTKQRMIDNGIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFT 351 - 420 PRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESH 421 - 490 SRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLEN 491 - 560 MMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINPFAPSRMPMKLTSNRRRWMHTFPVGPSGEAI 561 - 630 QIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSG 631 - 700 AGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDY 701 - 770 TEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGL 771 - 840 VSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSEFVSCWVEFSH 841 - 910 ERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRADEDEW 911 - 980 QLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEAS 981 - 1050 QKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPM 1051 - 1120 LDGTSLGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTG 1121 - 1190 VQLLSEQKGLSPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKI 1191 - 1260 VTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSF 1261 - 1330 SRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFE 1331 - 1400 MVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMH 1401 - 1470 LFQEAIAHRFGFVQDKYSASAFNFPAENKPQYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFC 1471 - 1540 EERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP 1541 - 1603 //
| PMID | Year | Title |
|---|---|---|
| 26517016 | 2016 | DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection. |
| 26216793 | 2015 | DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. |
| 25964426 | 2015 | Clonally related uterine leiomyomas are common and display branched tumor evolution. |
| 25764692 | 2015 | [Hepatitis C virus induced hepatocellular carcinoma associated genes]. |
| 25623524 | 2015 | Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. |
| 25599672 | 2015 | Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. |
| 25551790 | 2014 | Variations in DEPDC5 gene and its association with chronic hepatitis C virus infection in Saudi Arabia. |
| 25457612 | 2014 | Sestrins inhibit mTORC1 kinase activation through the GATOR complex. |
| 25366275 | 2015 | Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. |
| 25194487 | 2014 | Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. |
| More... |
