Names & Taxonomy
- Uniprot ID:
- Q9NQX3
- Entry Name:
- GEPH_HUMAN
- Status:
- reviewed
- Protein Names:
- Gephyrin [Includes: Molybdopterin adenylyltransferase (MPT adenylyltransferase) (EC 2.7.7.75) (Domain G); Molybdopterin molybdenumtransferase (MPT Mo-transferase) (EC 2.10.1.1) (Domain E)]
- Gene Names:
- GPHN GPH KIAA1385
- Gene Names Primary:
- GPHN
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 736
- Sequence:
- MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cell junction, synapse
Function
- Function:
- Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. 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.
- Pathway:
- Cofactor biosynthesis; molybdopterin biosynthesis.
- Catalytic Activity:
- ATP + molybdopterin = diphosphate + adenylyl-molybdopterin.
- Cofactor:
- COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Enzyme Regulation:
- ENZYME REGULATION: Inhibited by copper and tungsten.
- Gene Ontology Go:
- cell junction
cytoplasm
cytoskeleton
dendrite
plasma membrane
postsynaptic membrane
ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity
gamma-aminobutyric acid receptor clustering
glycine receptor clustering
Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process - Gene Ontology Biological Process:
- gamma-aminobutyric acid receptor clustering
glycine receptor clustering
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
Mo-molybdopterin cofactor biosynthetic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process - Gene Ontology Molecular Function:
- ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity - Gene Ontology Cellular Component:
- cell junction
cytoplasm
cytoskeleton
dendrite
plasma membrane
postsynaptic membrane - Keywords:
- 3D-structure
ATP-binding
Alternative splicing
Cell junction
Cell membrane
Cell projection
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Magnesium
Membrane
Metal-binding
Molybdenum
Molybdenum cofactor biosynthesis
Multifunctional enzyme
Nucleotide-binding
Phosphoprotein
Polymorphism
Postsynaptic cell membrane
Reference proteome
Synapse
Transferase