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	MGI: 109602 HomoloGene: 10820 GeneCards: GPHN
Genetically Related Diseases
mental depression
Gene ontology Molecular function • transferase activity • nucleotide binding • molybdopterin molybdotransferase activity • metal ion binding • protein binding • catalytic activity • molybdopterin adenylyltransferase activity • ATP binding Cellular component • cytoplasm • postsynaptic membrane • membrane • plasma membrane • synapse • cell junction • cytoskeleton • cell projection • dendrite Biological process • molybdopterin cofactor biosynthetic process • gamma-aminobutyric acid receptor clustering • glycine receptor clustering • Mo-molybdopterin cofactor biosynthetic process • molybdenum incorporation into molybdenum-molybdopterin complex • metabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10243	268566
Ensembl	ENSG00000171723	ENSMUSG00000047454
UniProt	Q9NQX3	Q8BUV3
RefSeq (mRNA)	NM_001024218 NM_020806	NM_145965 NM_172952
RefSeq (protein)	NP_001019389 NP_065857	NP_766540.2 NP_666077 NP_766540
Location (UCSC)	Chr 14: 66.51 – 67.18 Mb	Chr 12: 78.23 – 78.68 Mb
PubMed search

1JLJ

10243

268566

ENSG00000171723

ENSMUSG00000047454

Q9NQX3

Q8BUV3

NM_001024218
NM_020806

NM_145965
NM_172952

NP_001019389
NP_065857

NP_766540.2
NP_666077
NP_766540

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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Wikipedia