Biomarker: TWIST

Histology type: endometrioid endometrial carcinoma

Stage: aggressive phenotype

Country: China

Region: Shanghai

Study type: retrospective study

Followed up time :

Subgroup 1 name : negative

Subgroup 1 number: 54

Subgroup 2 name: positive

Subgroup 2 number: 70

Conclusion: These results demonstrated for the first time that the hypoxia-inducible factor 1α/TWIST/E-cadherin pathway may play a critical role in invasion and metastasis of endometrioid endometrial carcinoma. The combined evaluation of these markers may be useful in predicting aggressive phenotypes and thus prognosis in patients with endometrioid endometrial carcinoma.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression (hypoxia-inducible factor 1α+TWIST+E-cadherin )

Expression elevation: The sum of the intensity and extent points was used as the final staining scores (0 – 7),preserved E-cadherin expression (score 3) or reduced E-cadherin expression (scores 0, 1 and 2).

Statictics: cutoff<50;cutoff>50

Cohort age: 29;95

Funtion Uniprot: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity)

UniProt ID: Q15672

UniProt Link: https://www.uniprot.org/uniprotkb/Q15672/entry

Biological function from UniProt: #Biological rhythms #Differentiation #Myogenesis #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Subset of mesodermal cells.

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: Twist-related protein 1

Gene name from HGNC: TWIST1 (ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, H-twist, SCS, TWIST)

HPA class: Cancer-related genes Disease related genes Human disease related genes Transcription factors

AlphaFold DB: Q15672

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q15672

HPA link: https://www.proteinatlas.org/ENSG00000122691-TWIST1

Tissue specificity RNA from HPA: Tissue enhanced (breast)

Single cell type specificity Cell type enhanced (Endometrial stromal cells, Fibroblasts, Smooth muscle cells, Langerhans cells, Theca cells)

Immune cell specificity: Not detected in immune cells

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000122691-TWIST1/pathology

Pathology endo: ;https://www.proteinatlas.org/ENSG00000122691-TWIST1/pathology/endometrial+cancer;

Phenotype ID: 101400;123100; 180750;617746;

Disease: Saethre-Chotzen syndrome (SCS)；Craniosynostosis 1 (CRS1)；Craniosynostosis 1 (CRS1)

Note1: The disease is caused by variants affecting the gene represented in this entry; The disease is caused by variants affecting the gene represented in this entry ;The disease is caused by variants affecting the gene represented in this entry ;The disease is caused by variants affecting the gene represented in this entry ;

OMIM: 601622

OMIM link1: https://www.omim.org/entry/101400;https://www.omim.org/entry/123100;https://www.omim.org/entry/180750;https://www.omim.org/entry/617746;

OMIM link2: https://www.omim.org/entry/601622

HGNC ID: HGNC:12428

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12428