GPHN

Gephyrin, also known as GPHN, is a human gene.cite web | title = Entrez Gene: GPHN gephyrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10243| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GPHN gephyrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10243| accessdate = ]

References

Further reading

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

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes