neural cell adhesion molecule L1-like protein (close homolog of L1, CHL1, CALL)

Function

• extracellular matrix & cell adhesion protein
• nervous system development
• synaptic plasticity
• both soluble & membranous forms
  • promote neurite outgrowth of cerebellar & hippocampal neurons
  • suppress neuronal cell death
• neuronal positioning of pyramidal neurons
• regulation of both the number of interneurons & the efficacy of GABAergic synapses
• regulation of cell migration in nerve regeneration & cortical development
• potentiation of integrin-dependent cell migration towards extracellular matrix proteins
  • DGEA motif seems to be a recognition site for integrin
• recruits ANK3 to the plasma membrane
  • FIG[AQ]Y motif seems to be an ankyrin recruitment
• may interact with L1CAM, ITGB1/ITGA1, ITGB1/ITGA2, ANK3
• cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kD, 165 kD) in vitro

Structure

• N-glycosylated
• contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc)
• O-glycosylated

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• expressed in the fetal & adult brain, Schwann cell culture
• also detected in adult peripheral tissues

Pathology

• deletion of 1 copy of the CHL1 gene may be responsible for mental defects in patients with 3p deletion syndrome

More general terms

• adhesion receptor
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/607416
• UniProt: http://www.uniprot.org/uniprot/O00533.html