Description: Homo sapiens gephyrin (GPHN), transcript variant 8, mRNA. (from RefSeq NM_001377519) RefSeq Summary (NM_001024218): 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. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000315266.9 Gencode Gene: ENSG00000171723.16 Transcript (Including UTRs) Position: hg38 chr14:66,507,407-67,181,798 Size: 674,392 Total Exon Count: 22 Strand: + Coding Region Position: hg38 chr14:66,508,528-67,180,937 Size: 672,410 Coding Exon Count: 22
ID:GEPH_HUMAN DESCRIPTION: RecName: Full=Gephyrin; Includes: RecName: Full=Molybdopterin adenylyltransferase; Short=MPT adenylyltransferase; EC=22.214.171.124; AltName: Full=Domain G; Includes: RecName: Full=Molybdopterin molybdenumtransferase; Short=MPT Mo-transferase; EC=126.96.36.199; AltName: Full=Domain E; FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. CATALYTIC ACTIVITY: ATP + molybdopterin = diphosphate + adenylyl- molybdopterin. CATALYTIC ACTIVITY: Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP. COFACTOR: Magnesium (By similarity). ENZYME REGULATION: Inhibited by copper and tungsten (By similarity). PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis. SUBUNIT: Homotrimer. Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). SUBCELLULAR LOCATION: Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). DISEASE: Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death. SIMILARITY: In the N-terminal section; belongs to the MoaB/Mog family. SIMILARITY: In the C-terminal section; belongs to the MoeA family. SEQUENCE CAUTION: Sequence=BAA92623.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GPHNID317.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPHN";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NQX3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006777 Mo-molybdopterin cofactor biosynthetic process GO:0008152 metabolic process GO:0010038 response to metal ion GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex GO:0032324 molybdopterin cofactor biosynthetic process GO:0055114 oxidation-reduction process GO:0072579 glycine receptor clustering GO:0097112 gamma-aminobutyric acid receptor clustering