GPHN

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Gephyrin
Protein GPHN PDB 1ihc.png
PDB rendering based on 1ihc.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GPHN ; GEPH; GPH; GPHRYN; HKPX1
External IDs OMIM603930 MGI109602 HomoloGene10820 GeneCards: GPHN Gene
EC number 2.10.1.1, 2.7.7.75
RNA expression pattern
PBB GE GPHN 220773 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10243 268566
Ensembl ENSG00000171723 ENSMUSG00000047454
UniProt Q9NQX3 Q8BUV3
RefSeq (mRNA) NM_001024218 NM_145965
RefSeq (protein) NP_001019389 NP_666077
Location (UCSC) Chr 14:
66.97 – 67.65 Mb
Chr 12:
78.23 – 78.68 Mb
PubMed search [1] [2]

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[edit]

GPHN has been shown to interact with Mammalian target of rapamycin[2] and ARHGEF9.[5]

References[edit]

  1. ^ 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. ^ a b 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. 
  3. ^ 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. ^ a b "Entrez Gene: GPHN gephyrin". 
  5. ^ 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[edit]

External links[edit]