GPHN

Gephyrin
PDB rendering based on 1ihc.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1ihc​, 1jlj​, 1t3e​, 2fts​, 2fu3​
Identifiers
Symbols	GPHN ; GEPH; GPH; GPHRYN; KIAA1385
External IDs	Template:OMIM5 Template:MGI HomoloGene: 10820
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Gephyrin, also known as GPHN, is a human 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 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.

Further reading

• Sassoè-Pognetto M, Fritschy JM (2000). "Mini-review: gephyrin, a major postsynaptic protein of GABAergic synapses". Eur. J. Neurosci. 12 (7): 2205–10. PMID 10947798.
• Reiss J, Johnson JL (2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Hum. Mutat. 21 (6): 569–76. doi:10.1002/humu.10223. PMID 12754701.
• Prior P, Schmitt B, Grenningloh G; et al. (1992). "Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein". Neuron. 8 (6): 1161–70. PMID 1319186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kirsch J, Langosch D, Prior P; et al. (1991). "The 93-kDa glycine receptor-associated protein binds to tubulin". J. Biol. Chem. 266 (33): 22242–5. PMID 1657993.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meyer G, Kirsch J, Betz H, Langosch D (1995). "Identification of a gephyrin binding motif on the glycine receptor beta subunit". Neuron. 15 (3): 563–72. PMID 7546736.CS1 maint: Multiple names: authors list (link)
• Mammoto A, Sasaki T, Asakura T; et al. (1998). "Interactions of drebrin and gephyrin with profilin". Biochem. Biophys. Res. Commun. 243 (1): 86–9. doi:10.1006/bbrc.1997.8068. PMID 9473484.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kneussel M, Hermann A, Kirsch J, Betz H (1999). "Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin". J. Neurochem. 72 (3): 1323–6. PMID 10037506.CS1 maint: Multiple names: authors list (link)
• Sabatini DM, Barrow RK, Blackshaw S; et al. (1999). "Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling". Science. 284 (5417): 1161–4. PMID 10325225.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kins S, Betz H, Kirsch J (2000). "Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin". Nat. Neurosci. 3 (1): 22–9. doi:10.1038/71096. PMID 10607391.CS1 maint: Multiple names: authors list (link)
• Nagase T, Kikuno R, Ishikawa KI; et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. PMID 10718198.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Butler MH, Hayashi A, Ohkoshi N; et al. (2000). "Autoimmunity to gephyrin in Stiff-Man syndrome". Neuron. 26 (2): 307–12. PMID 10839351.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kneussel M, Haverkamp S, Fuhrmann JC; et al. (2000). "The gamma-aminobutyric acid type A receptor (GABAAR)-associated protein GABARAP interacts with gephyrin but is not involved in receptor anchoring at the synapse". Proc. Natl. Acad. Sci. U.S.A. 97 (15): 8594–9. PMID 10900017.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiss J, Gross-Hardt S, Christensen E; et al. (2001). "A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency". Am. J. Hum. Genet. 68 (1): 208–13. PMID 11095995.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells". Gene. 271 (2): 239–45. PMID 11418245.
• Schwarz G, Schrader N, Mendel RR; et al. (2001). "Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications". J. Mol. Biol. 312 (2): 405–18. doi:10.1006/jmbi.2001.4952. PMID 11554796.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grosskreutz Y, Hermann A, Kins S; et al. (2002). "Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin". Biol. Chem. 382 (10): 1455–62. PMID 11727829.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fuhrmann JC, Kins S, Rostaing P; et al. (2002). "Gephyrin interacts with Dynein light chains 1 and 2, components of motor protein complexes". J. Neurosci. 22 (13): 5393–402. doi:20026552 . PMID 12097491.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Waldvogel HJ, Baer K, Snell RG; et al. (2003). "Distribution of gephyrin in the human brain: an immunohistochemical analysis". Neuroscience. 116 (1): 145–56. PMID 12535948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)