SS18L1
Summary: This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SS18L1, nBAF chromatin remodeling complex subunit | MIM:606472 | Ensembl:ENSG00000184402 | HGNC:HGNC:15592 | PA37989 | 20q13.33 |
GO terms in SS18L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0003712 | transcription coregulator activity |
| MF | IEA | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0000776 | kinetochore |
| CC | IEA | GO:0000777 | condensed chromosome kinetochore |
| CC | IEA | GO:0000780 | condensed nuclear chromosome, centromeric region |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0016604 | nuclear body |
| CC | IEA | GO:0071565 | nBAF complex |
| BP | IEA | GO:0006325 | chromatin organization |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0016358 | dendrite development |
| BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0050775 | positive regulation of dendrite morphogenesis |
| BP | IEA | GO:0050775 | positive regulation of dendrite morphogenesis |
Gene expression in normal tissue: SS18L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SS18L1
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SS18L1
CLASSFICATION
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.