Biomarker: L1CAM

Histology type: endometrial carcinoma

Study type: systematic review/meta-analysis.

Followed up time :

Conclusion: High L1CAM expression predicts poor prognosis of patients with endometrial cancer

Sample method: systematic review/meta-analysis

Expression pattern : high expression

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 #Cell membrane #Cell projection #Membrane

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

Survival figure legend: Forest plot to evaluate the association between L1CAM and overall survival, and between L1CAM and disease-free survival.$The leave-one-out sensitive analysis plot for publication bias of overall survival and disease-free survival.

Survival curve link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021316/figure/F2/$ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021316/figure/F3/

Phenotype ID: 307000;303350;304100;

Disease: Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS);MASA syndrome (MASA);No disease ID; Agenesis of the corpus callosum, X-linked, partial (ACCPX);No disease ID;

Note1: The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793) ;The disease is caused by variants affecting the gene represented in this entry ;Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis ;The disease is caused by variants affecting the gene represented in this entry ;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: 303350;304100;307000;308840

OMIM link1: https://www.omim.org/entry/304100;https://www.omim.org/entry/307000;https://www.omim.org/entry/308840;

OMIM link2: https://www.omim.org/entry/303350;

HGNC ID: HGNC:6470

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