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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606472 Ensembl IDEnsembl:ENSG00000184402 HGNC IDHGNC:HGNC:15592 PHARMGKB IDPA37989 Map Location20q13.33 | |||||
GO terms in SS18L1
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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 |
Gene expression in normal tissue: SS18L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SS18L1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SS18L1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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