TWIST1 - twist family bHLH transcription factor 1 Gene
Also Known as CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38
Species: Homo sapiens
About TWIST1
This gene has 3 transcripts (splice variants), 124 orthologues, 13 paralogues and is associated with 8 phenotypes. Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues.
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, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
TWIST1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000474.4 | NP_000465.1 | twist-related protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
17332325 | GOA |
| enables DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
15545268 | GOA |
| enables DNA-binding transcription repressor activity |
IDA
IDA: Inferred from direct assay
|
27027434 | GOA |
| enables E-box binding |
IDA
IDA: Inferred from direct assay
|
17332325 | GOA |
| enables bHLH transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
10749989 | GOA |
| enables cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
27027434 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10749989 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10749989 | GOA |
TWIST1 Protein Structure
HLH: Helix-loop-helix DNA-binding domain (109 - 159)
- 0
- 100
- 202 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
twist-related protein 1 |
|
TWIST1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TWIST1 | Q15672 | G3BP2 | Homo sapiens | Q9UN86 | 25893917 | |
|
Intra
|
TWIST1 | Q15672 | KMT5A | Homo sapiens | Q9NQR1 | 21983900 | |
|
Intra
|
TWIST1 | Q15672 | ETS2 | Homo sapiens | P15036 | 18598946 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 18504427 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 22975381 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 18504427 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 22975381 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 18504427 | |
|
Intra
|
TWIST1 | Q15672 | TP53 | Homo sapiens | P04637 | 25402006 | |
|
Intra
|
TWIST1 | Q15672 | KAT5 | Homo sapiens | Q92993 | 24525235 | |
|
Intra
|
TWIST1 | Q15672 | KAT2B | Homo sapiens | Q92831 | 18504427 | |
|
Intra
|
TWIST1 | Q15672 | TCF4 | Homo sapiens | P15884 | 19534813 | |
|
Intra
|
TWIST1 | Q15672 | TCF4 | Homo sapiens | P15884 | 25402006 | |
|
Intra
|
TWIST1 | Q15672 | TCF4 | Homo sapiens | P15884 | 19534813 | |
|
Intra
|
TWIST1 | Q15672 | TCF4 | Homo sapiens | P15884 | 19534813 | |
|
Intra
|
TWIST1 | Q15672 | BRD4 | Homo sapiens | O60885 | 24525235 | |
|
Intra
|
TWIST1 | Q15672 | BRD4 | Homo sapiens | O60885 | 24525235 | |
|
Intra
|
TWIST1 | Q15672 | BRD4 | Homo sapiens | O60885 | 24525235 | |
|
Intra
|
TWIST1 | Q15672 | TCF3 | Homo sapiens | P15923-1 | 10749989 | |
|
Intra
|
TWIST1 | Q15672 | TCF3 | Homo sapiens | P15923-1 | 10749989 | |
|
Intra
|
TWIST1 | Q15672 | TCF3 | Homo sapiens | P15923-1 | 11248247 | |
|
Intra
|
TWIST1 | Q15672 | TCF3 | Homo sapiens | P15923-1 | 11248247 | |
|
Intra
|
TWIST1 | Q15672 | TCF3 | Homo sapiens | P15923-1 | 10749989 | |
|
Intra
|
TWIST1 | Q15672 | BRD4 | Homo sapiens | O60885-1 | 24525235 | |
|
Intra
|
TWIST1 | Q15672 | BRD4 | Homo sapiens | O60885-1 | 24525235 |
TWIST1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81173 | TWIST1 Antibody (YA3398) | WB, IHC-P, ICC/IF, FC | Human, Mouse |
| HY-P84596 | TWIST1 Antibody (YA4293) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit |
| HY-P84596A | TWIST1 Antibody (YA4293)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit |
| HY-P86342 | TWIST1 Antibody (YA6034) | WB, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Saethre-Chotzen Syndrome |
|
|
| Sweeney-Cox Syndrome |
|
|
| Craniosynostosis 1 |
|
|
| Robinow-Sorauf Syndrome |
|
|
| Non-Syndromic Sagittal Craniosynostosis |
|
|
| Non-Syndromic Bicoronal Craniosynostosis |
|
|
| Synostosis |
|
|
| Craniosynostosis |
|
|
| Baller-Gerold Syndrome |
|
|
| Ptosis |
|
|
| Muenke Syndrome |
|
|
| Pfeiffer Syndrome |
|
|
| Blepharophimosis |
|
|
| Parietal Foramina |
|
|
| Dysostosis |
|
|
| Intracranial Hypertension |
|
|
| Hypertelorism |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Apert Syndrome |
|
|
| Colorectal Cancer |
|
|
| Gastric Cancer |
|
|
| Hepatitis D |
|
|
| Gliosarcoma |
|
|
| Breast Cancer |
|
|
| Strabismus |
|
|
| Crouzon Syndrome |
|
|
| Polydactyly |
|
|
| Ovarian Cancer |
|
|
| Holoprosencephaly |
|
|
| Pancreatic Cancer |
|
|
| Bladder Cancer |
|
|
| Bone Development Disease |
|
|
| Hepatocellular Carcinoma |
|
|
| Cleft Palate, Isolated |
|
|
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
|
| Prostate Cancer |
|
|
| Lung Cancer |
|
|
| Carpenter Syndrome 1 |
|
|
| Jackson-Weiss Syndrome |
|
|
| Microcephaly |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TWIST1 | VGNC | VGNC:36525 |
| Felis catus | TWIST1 | VGNC | VGNC:80750 |
| Rattus norvegicus | TWIST1 | RGD | RGD:621455 |
| Mus musculus | TWIST1 | MGD | MGI:98872 |
| Others | TWIST1 | NCBI |