| General Information |
| MoonProt ID | 231 |
| First appeared in release | 1.0 |
| Name(s) | Gephyrin
Molybdopterin adenylyltransferase
MPT adenylyltransferase
Molybdopterin molybdenumtransferase
MPT Mo-transferase
Gene Name: GPHN |
| UniProt ID | Q9NQX3 (GEPH_HUMAN), Reviewed |
| GO terms | GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0007529 establishment of synaptic specificity at neuromuscular junction
GO:0008152 metabolic process
GO:0032324 molybdopterin cofactor biosynthetic process
GO:0044281 small molecule metabolic process
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061598 molybdopterin adenylyltransferase activity
GO:0061599 molybdopterin molybdotransferase activity
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane |
| Organisms for which functions have been demonstrated | Homo sapiens (human, a mammal) |
| Sequence length | 736 |
| FASTA sequence | >sp|Q9NQX3|GEPH_HUMAN Gephyrin OS=Homo sapiens GN=GPHN PE=1 SV=1
MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL
|
| Structure Information |
| PDB ID | 1T3E
2FU3
2FTS
1IHC
1JLJ |
| Quaternary structure | |
| SCOP | beta-clip, MoeA N-terminal region -like, Molybdenum cofactor biosynthesis proteins |
| CATH | 3.40.980.10, 3.90.105.10, 2.170.190.11, 2.40.340.10 |
| TM Helix Prediction | no TM helices |
| DisProt Annotation | Not in DisProt |
| Predicted Disorder Regions | 1-11, 182-285, 293-315, 736 |
| Connections to Disease |
| OMIM ID | |
| Function 1 |
| Function description | connects membrane proteins to cytoskeleton
microtubule binding protein
anchors transmembrane receptors
needed for clustering of inhibitory glycine receptors in postsynaptic membranes in the rat central nervous system
|
| References for function | |
| E.C. number | N/A |
| Location of functional site(s) | |
| Cellular location of function | cytoplasmic side of plasma membrane |
| Comments | |
| Function 2 |
| Function description | Molybdopterin adenylyltransferase and Molybdopterin molybdenumtransferase, enzyme
biosynthesis of the molybdenum cofactor
catalyzes two steps
ATP + molybdopterin => diphosphate + adenylyl-molybdopterin.
Adenylyl-molybdopterin + molybdate => molybdenum cofactor + AMP.
Cofactor biosynthesis, molybdopterin biosynthesis
|
| References for function | Stallmeyer B, Schwarz G, Schulze J, Nerlich A, Reiss J, Kirsch J, Mendel RR. The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells. Proc Natl Acad Sci U S A. 1999 Feb 16. PMID: 9990024 |
| E.C. number | 2.7.7.75 and 2.10.1.1 |
| Location of functional site(s) | |
| Cellular location of function | cytoplasm |
| Comments | |