GPHN
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.
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.
Biological Process
Establishment of synaptic specificity at neuromuscular junction Source: GO_Central
Gamma-aminobutyric acid receptor clustering Source: UniProtKB
Glycine receptor clustering Source: GO_Central
Molybdenum incorporation into molybdenum-molybdopterin complex Source: GO_Central
Molybdopterin cofactor biosynthetic process Source: UniProtKB
Mo-molybdopterin cofactor biosynthetic process Source: GO_Central
Postsynaptic neurotransmitter receptor diffusion trapping Source: GO_Central
Response to metal ion Source: CAFA
Cellular Location
Postsynaptic cell membrane; Cell membrane; Cytosol; Cytoskeleton; Dendrite; Postsynaptic density. Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157).
Involvement in disease
Molybdenum cofactor deficiency, complementation group 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.
PTM
Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157).
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