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gephyrin; includes: molybdopterin adenylyltransferase, MPT adenylyltransferase, domain G; molybdopterin molybdenumtransferase; MPT Mo-transferase; domain E (GPHN, GPH, KIAA1385)

Function: - microtubule-associated protein - involved in membrane protein-cytoskeleton interactions - thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules - catalyzes 2 steps in the biosynthesis of the molybdenum cofactor - in the 1st step, molybdopterin is adenylated - subsequently, molybdate is inserted into adenylated molybdopterin & AMP is released molybdopterin + ATP adenylyl-molybdopterin + diphosphate adenylyl-molybdopterin + molybdate molybdenum-cofactor + adenylate - inhibited by copper & tungsten - cofactor biosynthesis; molybdopterin biosynthesis - interacts with GABARAP (putative) Cofactor: Mg+2 (putative) Structure: - homotrimer - in the N-terminal section; belongs to the moaB/mog family - In the C-terminal section; belongs to the moeA family Compartment: - cell junction, synapse (putative) - cell junction, synapse, postsynaptic cell membrane - peripheral membrane protein; cytoplasmic side (putative) - cytoplasm, cytoskeleton (putative) - cytoplasmic face of glycinergic postsynaptic membranes (putative) Alternative splicing: named isoforms=2 Pathology: - defects in GPHN are the cause of molybdenum cofactor deficiency type C - defects in GPHN are a cause of startle disease

General

microtubule-associated protein (MAP) phosphoprotein

Properties

SIZE: entity length = 736 aa MW = 80 kD COMPARTMENT: cytoplasm MOTIF: MPT Mo-transferase {14-166} GABARAP interaction {140-316} MOTIF: Ser phosphorylation site {S188} Ser phosphorylation site {S194} Thr phosphorylation site {T266} Ser phosphorylation site {S270} Thr phosphorylation site {T286} Ser phosphorylation site {S305} MPT adenylyltransferase {326-736}

Database Correlations

OMIM correlations UniProt Q9NQX3 PFAM correlations Entrez Gene 10243 Kegg hsa:10243

References

  1. UniProt :accession Q9NQX3
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/GPHNID317.html
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/GPHN