GPHN
From Wikipedia, the free encyclopedia
GPHN (sometimes GEPH) is a human gene that encodes the protein gephyrin.[1] [2] [3] [4]
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. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.[4]
Interactions
GPHN has been shown to interact with Mammalian target of rapamycin[2] and ARHGEF9.[5]
References
- ↑ Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G, Beyreuther K, Maulet Y, Werner P, Langosch D (Jul 1992). "Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein". Neuron 8 (6): 1161–70. doi:10.1016/0896-6273(92)90136-2. PMID 1319186.
- ↑ 2.0 2.1 Sabatini DM, Barrow RK, Blackshaw S, Burnett PE, Lai MM, Field ME, Bahr BA, Kirsch J, Betz H, Snyder SH (Jun 1999). "Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling". Science 284 (5417): 1161–4. doi:10.1126/science.284.5417.1161. PMID 10325225.
- ↑ Fritschy JM, Harvey RJ, Schwarz G (May 2008). "Gephyrin: where do we stand, where do we go?". Trends Neurosci 31 (5): 257–64. doi:10.1016/j.tins.2008.02.006. PMID 18403029.
- ↑ 4.0 4.1 "Entrez Gene: GPHN gephyrin".
- ↑ 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.
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. doi:10.1046/j.1460-9568.2000.00106.x. 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.
- 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.
- 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. doi:10.1016/0896-6273(95)90145-0. PMID 7546736.
- 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.
- 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. doi:10.1046/j.1471-4159.1999.0721323.x. PMID 10037506.
- 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.
- 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. doi:10.1093/dnares/7.1.65. PMID 10718198.
- Butler MH, Hayashi A, Ohkoshi N et al. (2000). "Autoimmunity to gephyrin in Stiff-Man syndrome". Neuron 26 (2): 307–12. doi:10.1016/S0896-6273(00)81165-4. PMID 10839351.
- Kneussel M, Haverkamp S, Fuhrmann JC et al. (2000). "The γ-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. doi:10.1073/pnas.97.15.8594. PMC 26993. PMID 10900017.
- 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. doi:10.1086/316941. PMC 1234914. PMID 11095995.
- David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells". Gene 271 (2): 239–45. doi:10.1016/S0378-1119(01)00511-X. 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.
- 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. doi:10.1515/BC.2001.179. PMID 11727829.
- 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. PMID 12097491.
- 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. PMC 139241. PMID 12477932.
- Waldvogel HJ, Baer K, Snell RG et al. (2003). "Distribution of gephyrin in the human brain: an immunohistochemical analysis". Neuroscience 116 (1): 145–56. doi:10.1016/S0306-4522(02)00550-X. PMID 12535948.
External links
- GPHN human gene location in the UCSC Genome Browser.
- GPHN human gene details in the UCSC Genome Browser.
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