Biomarker: MSX1

Histology type: endometrial carcinoma

Country: Germany

Region: Munich

Study type: retrospective study

Followed up time :

Conclusion: Although there is evidence that MSX1 expression correlates with improved long-term survival, further studies are necessary to evaluate if MSX1 can be used as a prognostic marker.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Expression elevation: The IRS (immunoreactive score), which is the result of the percentage of stained carcinoma cells (0 = 0%, 1 = 1–10%, 2 = 11–50%, 3 = 51–80%, 4 ≤ 81%) multiplied with the coded staining intensity (0 = no staining, 1 = weak intensity, 2 = moderate intensity, 3 = strong intensity).

Statictics: Mean ;Range

Cohort age: 63.7;35–82

Funtion Uniprot: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.

UniProt ID: P28360

UniProt Link: https://www.uniprot.org/uniprotkb/P28360/entry

Biological function from UniProt: #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in the developing nail bed mesenchyme.

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Caution: It is uncertain whether Met-1 or Met-7 is the initiator.

Recommended name: Homeobox protein MSX-1

Gene name from HGNC: MSX1 (HOX7, HYD1, OFC5)

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

AlphaFold DB: P28360

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P28360

HPA link: https://www.proteinatlas.org/ENSG00000163132-MSX1

Tissue specificity RNA from HPA: Tissue enhanced (cervix, choroid plexus)

Tissue expression from HPA: Distinct nuclear expression in the uterine tract and endometrial glands.

Single cell type specificity Group enriched (Glandular and luminal cells, Endometrial ciliated cells, Adipocytes)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Nucleoplasm

Cancer prognostic summary HPA Prognostic marker in endometrial cancer (favorable) and renal cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000163132-MSX1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000163132-MSX1/pathology/endometrial+cancer

Expression figure legend: Tumor samples stained for MSX1

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350265/figure/ijms-21-04529-f001/$https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350265/figure/ijms-21-04529-f002/ $ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350265/figure/ijms-21-04529-f004/

Survival figure legend: Survival of patients with MSX1-expression in more than 10% of the tumor cells and less than 10% MSX-1 expression or no expression.

Survival curve link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350265/figure/ijms-21-04529-f005/

Phenotype ID: 106600:;189500;608874

Disease: Tooth agenesis, selective, 1 (STHAG1);No disease ID;Ectodermal dysplasia 3, Witkop type (ECTD3);The disease is caused by variants affecting the gene represented in this entry;Non-syndromic orofacial cleft 5 (OFC5);

Note1: The disease is caused by variants affecting the gene represented in this entry;MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4;A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.;The disease is caused by variants affecting the gene represented in this entry ;

OMIM: 142983

OMIM link1: https://www.omim.org/entry/106600; https://www.omim.org/entry/189500; https://www.omim.org/entry/608874;

OMIM link2: https://www.omim.org/entry/142983

HGNC ID: HGNC:7391

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7391