Biomarker: L1CAM

Histology type: endometrial carcinoma

Country: Norway

Region: Hordaland

Study type: Multicenter Study

Followed up time :

Conclusion: Expression of L1CAM in curettage or high L1CAM level in preoperative blood samples predicts lymph node metastases and poor outcome in endometrial cancer patients.

Sample type : tissue

Sample method: immunohistochemistry/Gene expression analysis

Expression pattern : high level expression(4–9 high)

Expression elevation: Both intensity and area of positive tumour cells were considered. The intensity of staining was graded from 0 (no staining) to 3 (strong), and the area as 0, 1 (<10%), 2 (10–50%) and 3 (51–100%). From this, a staining index (0–9) was calculated as the product of intensity and area. For L1CAM index 0–3 was considered low and 4–9 high.

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

Expression figure legend: Expression of L1CAM is a prognostic marker in curettage samples, blood samples and hysterectomy samples of endometrial cancer patients

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589986/figure/fig1/

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