OBSCN
Summary: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | MIM:608616 | Ensembl:ENSG00000154358 | HGNC:HGNC:15719 | PA31888 | 1q42.13 |
GO terms in OBSCN
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0004674 | protein serine/threonine kinase activity |
| MF | TAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005089 | Rho guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005516 | calmodulin binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | NAS | GO:0008307 | structural constituent of muscle |
| MF | IPI | GO:0030506 | ankyrin binding |
| MF | IPI | GO:0031432 | titin binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IEA | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0035023 | regulation of Rho protein signal transduction |
| BP | ISS | GO:0036309 | protein localization to M-band |
| BP | TAS | GO:0043065 | positive regulation of apoptotic process |
| BP | TAS | GO:0045214 | sarcomere organization |
| BP | TAS | GO:0051056 | regulation of small GTPase mediated signal transduction |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0016604 | nuclear body |
| CC | NAS | GO:0030016 | myofibril |
| CC | ISS | GO:0030018 | Z disc |
| CC | ISS | GO:0031430 | M band |
| CC | IEA | GO:0042383 | sarcolemma |
Gene expression in normal tissue: OBSCN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in OBSCN
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | rhoa_reg_pathway | Regulation of RhoA activity |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-193648 | NRAGE signals death through JNK |
| reactome | R-HSA-193704 | p75 NTR receptor-mediated signalling |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194840 | Rho GTPase cycle |
| reactome | R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-416482 | G alpha (12/13) signalling events |
| reactome | R-HSA-73887 | Death Receptor Signalling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD552 | AZD-1775 | 1 |
| iGMDRD246 | NPC26 | 5 |
| iGMDRD505 | Pevonedistat | 10 |
| iGMDRD286 | Nsc 632839 | 6 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD103 | SN-38 | 6 |
| iGMDRD123 | Isoevodiamine | 5 |
| iGMDRD945 | ML214 | 1 |
| iGMDRD357 | AG 14361 | 3 |
| iGMDRD154 | NSC23766 | 5 |
| iGMDRD435 | BI-2536 | 3 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD341 | Triacsin c | 2 |
| iGMDRD698 | Neratinib | 2 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD84 | Lovastatin acid | 4 |
| iGMDRD64 | Parbendazole | 8 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD887 | Compound 23 citrate | 5 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD138 | PX 12 | 5 |
| iGMDRD480 | KU0060648 | 3 |
| iGMDRD255 | SB225002 | 8 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD779 | PRL-3 Inhibitor I | 1 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD151 | CHM-1 | 4 |
| iGMDRD433 | Lexibulin | 3 |
| iGMDRD126 | Tipifarnib | 6 |
| iGMDRD420 | Leucascandrolide A | 6 |
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD599 | Salermide | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in OBSCN
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.