Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| TWIST1 | 7291 | Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) | 7 | SCS; ACS3; CRS1; BPES2; BPES3; TWIST; bHLHa38 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 20140954 | 2010 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Methylation & Up-regulation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Basic helix-loop-helix proteins |
| Description | Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008] | Chromosome | 7 |
| Location | 7p21.2 |
| Start | 19113047 |
| End | 19117672 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 4626 |
| OMIM ID | 601622 |
| HGNC ID | HGNC:12428 |
| Unigene ID | Hs.66744 |
| Ensembl ID | ENSG00000122691 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | XM_011515496.1 |
|---|---|
| Exon | join(254..1002,3750..3796,4533..4626) | mRNA Sequence | Download Select all |
| Length | 890 |
Protein Information
| Protein ID | NP_000465.1 |
|---|---|
| Protein Name | Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) |
| Molecular Wt. (Da) | 20823 |
| Protein Sequence | Download Select all |
| Length | 202 |
| Uniprot ID | Q02487 |
| Ensembl Protein ID | ENSP00000251081 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2737 | GLI3 | 1313 | P10071 | in vitro | 12142027 |
| 4654 | MYOD1 | 1166 | NP_002469.2 | in vitro;in vivo | 9343420 |
| 5970 | RELA | 1241 | NP_068810.3 | in vitro;in vivo | 12553906 |
| 6929 | TCF3 | 918 | NP_003191.1 | yeast 2-hybrid | 10749989 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Proteoglycans in cancer | hsa05205 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00083 | 109-164 | HLH |
| cl00081 | 109-164 | HLH superfamily |
| pfam00010 | 109-159 | HLH |
| smart00353 | 114-165 | HLH |
Ontology Information
| HPRD ID | 526 |
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | Growth factor activity (GO:0008083) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.