Biomarker: Twist

Histology type: endometrial carcinoma

Country: Japan

Region: Ishikawa

Followed up time :

Subgroup 1 name : High

Subgroup 1 number: 34

Subgroup 2 name: Low

Subgroup 2 number: 36

Conclusion: Our data implies that high Twist expression is a potential novel prognostic factor for disease survival of endometrial cancer. Furthermore, the present study implicates Twist as a potential therapeutic target for this tumor type.

Sample type : tissue

Sample method: immunohistochemistry,Western blot analysis

Expression pattern : high expression

Expression elevation: For evaluation of Twist expression, staining intensity was scored as 0 (negative), 1 (weak), 2 (medium), and 3 (strong). Extent of staining was scored as 0 (0%), 1 (1%-25%), 2 (26%-50%), 3 (51%-75%), and 4 (76%-100%) according to the percentage of the positive staining areas in relation to the whole cancer areas. The sum of the intensity and extent score was used as the final staining score (0-7) for Twist

Statictics: cutoff<60;cutoff>60

Cohort age: 43;20–72

Subgroup 1 age: 22

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

Phenotype ID: 101400

Disease: Saethre-Chotzen syndrome (SCS);Robinow-Sorauf syndrome (RSS);Craniosynostosis 1 (CRS1);Sweeney-Cox syndrome (SWCOS);

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/180750;https://www.omim.org/entry/123100;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