TWIST1
Summary: This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Aug 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601622 Ensembl IDEnsembl:ENSG00000122691 HGNC IDHGNC:HGNC:12428 PHARMGKB IDPA37088 Map Location7p21.1 | |||||
GO terms in TWIST1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
Gene expression in normal tissue: TWIST1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TWIST1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TWIST1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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