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; OMA:GPHN - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q23.3-q24.1 Start 66,507,407 bp[1] End 67,181,803 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C3 Start 78,273,153 bp[2] End 78,731,546 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum right lobe of liver prefrontal cortex right frontal lobe anterior cingulate cortex primary visual cortex caudate nucleus nucleus accumbens Top expressed in spermatid extensor digitorum longus muscle dentate gyrus of hippocampal formation granule cell saccule mammillary body lobe of cerebellum plantaris muscle cerebellar vermis muscle of thigh anterior amygdaloid area More reference expression data BioGPS 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 Species Human Mouse Entrez 10243 268566 Ensembl ENSG00000171723 ENSMUSG00000047454 UniProt Q9NQX3 Q8BUV3 RefSeq (mRNA) NM_001024218 NM_020806 NM_001377514 NM_001377515 NM_001377516 NM_001377517 NM_001377518 NM_001377519 NM_145965 NM_172952 RefSeq (protein) NP_001019389 NP_065857 NP_001364443 NP_001364444 NP_001364445 NP_001364446 NP_001364447 NP_001364448 NP_666077 NP_766540 Location (UCSC) Chr 14: 66.51 – 67.18 Mb Chr 12: 78.27 – 78.73 Mb PubMed search [3] [4]
Wikidata
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Gephyrin is a protein that in humans is encoded by the GPHN gene.^{[5][6][7][8][9]}

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.