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Gephyrin (GPHN)

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GEPH; GPH; GPHRYN; Molybdopterin adenylyltransferase; Molybdopterin molybdenumtransferase; Domain G/E

Gephyrin (GPHN)
CCC H976
HGNC 15465
MGI 109602
PubMed 23393157
RGD 69194
UniProt Q9NQX3
Wiki Gephyrin
GPHN 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.
The N- and C-terminal domains of gephyrin, encoded by exons 3-7 and 16-29, respectively, displayed sequence similarities to bacterial, invertebrate, and plant proteins involved in Moco biosynthesis, whereas the central exons 8, 13, and 14 encode motifs that may mediate oligomerization and tubulin binding.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gephyrin (GPHN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gephyrin (GPHN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gephyrin (GPHN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gephyrin (GPHN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gephyrin (GPHN) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gephyrin (GPHN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gephyrin (GPHN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gephyrin (GPHN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gephyrin (GPHN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gephyrin (GPHN) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gephyrin (GPHN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gephyrin (GPHN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gephyrin (GPHN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gephyrin (GPHN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gephyrin (GPHN) ELISA Kit Customized Service Offer
  1. "A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency."Am. J. Hum. Genet. 68:208-213(2001) [PubMed] [Europe PMC] [Abstract]
  2. "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells."Gene 271:239-245(2001) [PubMed] [Europe PMC] [Abstract]
  3. "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. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  6. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications."J. Mol. Biol. 312:405-418(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia."J. Biol. Chem. 278:24688-24696(2003) [PubMed] [Europe PMC] [Abstract]
  14. "A GPHN point mutation leading to molybdenum cofactor deficiency."Clin. Genet. 80:598-599(2011) [PubMed] [Europe PMC] [Abstract]