DCC
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
Full Name
DCC Netrin 1 Receptor
Function
Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene.
Biological Process
Anterior/posterior axon guidance Source: Ensembl
Apoptotic process Source: ProtInc
Axon guidance Source: Reactome
Axonogenesis Source: ProtInc
Dorsal/ventral axon guidance Source: Ensembl
Extrinsic apoptotic signaling pathway in absence of ligand Source: Reactome
Negative regulation of collateral sprouting Source: BHF-UCL
Negative regulation of dendrite development Source: BHF-UCL
Negative regulation of netrin-activated signaling pathway Source: Reactome
Negative regulation of neuron projection development Source: BHF-UCL
Neuron migration Source: Ensembl
Postsynaptic modulation of chemical synaptic transmission Source: Ensembl
Regulation of neuron death Source: UniProtKB
Spinal cord ventral commissure morphogenesis Source: Ensembl
Cellular Location
Membrane
Involvement in disease
Mirror movements 1 (MRMV1):
A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum.
Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development (HGPPS2):
An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis.
Topology
Extracellular: 26-1097
Helical: 1098-1122
Cytoplasmic: 1123-1447
PTM
Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.