GPHN
Function
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940).
Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
Involvement in disease
Molybdenum cofactor deficiency C
MOCODC
A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; molybdopterin biosynthesis.
Post-translational modifications
Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157).
Sequence Similarities
In the N-terminal section; belongs to the MoaB/Mog family.
In the C-terminal section; belongs to the MoeA family.
Cellular localization
- Postsynaptic cell membrane
- Lipid-anchor
- Cytoplasmic side
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
- Cytoplasm
- Cytosol
- Cytoplasm
- Cytoskeleton
- Cell projection
- Dendrite
- Postsynaptic density
- Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157).
Alternative names
GPH, KIAA1385, GPHN, Gephyrin