CHL1

The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. Several alternatively spliced transcript variants of this gene have been described, but their full length nature is not known. [provided by RefSeq]

Full Name

cell adhesion molecule with homology to L1CAM (close homolog of L1)

Function

Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).

Biological Process

Axon guidance Source: InterPro
Axon regeneration Source: Ensembl
Cell adhesion Source: ProtInc
Signal transduction Source: ProtInc

Cellular Location

Cell membrane. Soluble forms produced by cleavage/shedding also exist.
Processed neural cell adhesion molecule L1-like protein: Extracellular matrix

Topology

Extracellular: 25-1082
Helical: 1083-1103
Cytoplasmic: 1104-1208

PTM

Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors (By similarity). Cleaved by BACE1 (By similarity).
N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity).
O-glycosylated.