Gephyrin

GPHN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1JLJ
Identifiers
Aliases	GPHN, GEPH, GPH, GPHRYN, HKPX1, MOCODC, gephyrin
External IDs	OMIM: 603930 MGI: 109602 HomoloGene: 10820 GeneCards: GPHN
Gene location (Human)
Chr.	Chromosome 14 (human)
End	67,181,803 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	78,731,546 bp
RNA expression pattern
	Top expressed in
	cerebellar cortex; ; cerebellar hemisphere; ; right lobe of liver; ; prefrontal cortex; ; caudate nucleus; ; nucleus accumbens; ; dorsolateral prefrontal cortex; ; Brodmann area 9; ; putamen; ; amygdala;
	Top expressed in
	spermatid; ; extensor digitorum longus muscle; ; saccule; ; mammillary body; ; plantaris muscle; ; cerebellar vermis; ; triceps brachii muscle; ; otic placode; ; sternocleidomastoid muscle; ; olfactory tubercle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; molybdopterin molybdotransferase activity; metal ion binding; protein binding; catalytic activity; molybdopterin adenylyltransferase activity; ATP binding; nitrate reductase activity; molybdopterin cofactor binding;
Cellular component	cytoplasm; postsynaptic membrane; membrane; plasma membrane; synapse; cell junction; cytoskeleton; cell projection; dendrite; postsynaptic density; cytosol; postsynaptic specialization; postsynaptic specialization membrane;
Biological process	gamma-aminobutyric acid receptor clustering; glycine receptor clustering; Mo-molybdopterin cofactor biosynthetic process; molybdenum incorporation into molybdenum-molybdopterin complex; metabolism; response to metal ion; molybdopterin cofactor biosynthetic process; establishment of synaptic specificity at neuromuscular junction; postsynaptic neurotransmitter receptor diffusion trapping;
	Sources:Amigo / QuickGO
Orthologs
	10243
	268566
	ENSG00000171723
	ENSMUSG00000047454
	Q9NQX3
	Q8BUV3
NM_001024218; NM_020806; NM_001377514; NM_001377515; NM_001377516;
	NM_001377517; NM_001377518; NM_001377519
	NM_145965; NM_172952
NP_001019389; NP_065857; NP_001364443; NP_001364444; NP_001364445;
	NP_001364446; NP_001364447; NP_001364448
	NP_666077; NP_766540
	Wikidata
View/Edit Human	View/Edit Mouse

Gephyrin is a protein that in humans is encoded by the GPHN gene.

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 hyperekplexia and also lead to molybdenum cofactor deficiency.

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