Biomarker: L1CAM

Histology type: endometrioid endometrial carcinoma

Stage: high risk

Country: China

Region: Wuhan

Followed up time :

Subgroup 1 name : L1-negative

Subgroup 1 number: 78

Subgroup 2 name: L1-positive

Subgroup 2 number: 194

Conclusion: According to our analysis, we suggest that L1CAM is a novel marker for EMT in ECs and that L1CAM-typing could identify endometrioid ECs that have type 2-like features and are at high risk for recurrence.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Expression elevation: The slides were evaluated for the percentage of tumour cells positive for each stain, as well as a subjective assessment of intensity of staining, graded from 0 to +3.

Statictics: Range

Cohort age: 32.7–87.7

Funtion description: In EC cell lines treated with the epithelial-mesenchymal transition (EMT) inducer TGFbeta1, L1CAM and vimentin were strongly up-regulated, while E-cadherin expression was reduced. The treatment also resulted in an increased expression of the EMT transcription factor Slug and an enhanced cell invasion. Depletion of Slug by siRNA knockdown prevented both L1CAM up-regulation and enhanced cell invasion.

Funtion Uniprot: Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.

UniProt ID: P32004

UniProt Link: https://www.uniprot.org/uniprotkb/P32004/entry

Biological function from UniProt: #Cell adhesion #Differentiation #Neurogenesis

Molecular function from UniProt:

Subcellular UniProt: #Cell membrane #Cell projection #Membrane

Recommended name: Neural cell adhesion molecule L1

Gene name from HGNC: L1CAM (CD171, HSAS, HSAS1, MASA, MIC5, S10, SPG1)

CD antigen name: CD171

HPA class: CD markers Disease related genes Human disease related genes Metabolic proteins Plasma proteins

AlphaFold DB: P32004

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P32004

HPA link: https://www.proteinatlas.org/ENSG00000198910-L1CAM

Tissue specificity RNA from HPA: Tissue enhanced (brain, intestine)

Tissue expression from HPA: Cytoplasmic expression mainly in CNS, PNS and distal renal tubules.

Single cell type specificity Cell type enhanced (Collecting duct cells, Melanocytes, Horizontal cells, Excitatory neurons, Inhibitory neurons)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Nucleoplasm, Plasma membrane (Single cell variability)

Cancer prognostic summary HPA Prognostic marker in endometrial cancer (unfavorable), lung cancer (unfavorable), renal cancer (unfavorable) and head and neck cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000198910-L1CAM/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000198910-L1CAM/pathology/endometrial+cancer

Phenotype ID: 307000;303350;304100;

Disease: Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS);MASA syndrome (MASA);Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis; Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HSAS) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HSAS and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum;

OMIM: 308840

OMIM link2: https://www.omim.org/entry/308840

HGNC ID: HGNC:6470

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6470