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0GEPH_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameGPHN
DescriptionGephyrin.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GON/A
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Proteins in this family contain two structural domains. One of these contains the conserved DGXA motif. This region is found in proteins involved in biosynthesis of molybdopterin cofactor however the exact molecular function of this region is uncertain.
  IPR005110:MoeA, N-terminal, domain I and II
This domain is found in proteins involved in biosynthesis of molybdopterin cofactor however the exact molecular function of this domain is uncertain. The structure of this domain is known and forms an incomplete beta barrel.
  IPR005111:MoeA, C-terminal, domain IV
Eukaryotic and prokaryotic molybdoenzymes require a molybdopterin cofactor (MoCF) for their activity. The biosynthesis of this cofactor involves a complex multistep enzymatic pathway. One of the eukaryotic proteins involved in this pathway is the Drosophila protein cinnamon which is highly similar to gephyrin. rat microtubule-associated protein which was thought to anchor the glycine receptor to subsynaptic microtubules. Cinnamon and gephyrin are evolutionary related.n their N-terminal half.o the Escherichia coli MoCF biosynthesis proteins mog/chlG and moaB/chlA2 and.n their C-terminal half.o E. coli moeA/chlE.
  IPR001453:Molybdopterin binding domain
This group represents a bifunctional molybdenum cofactor molybdenum incorporation/glycine receptor clustering protein. Please see the following relevant references: .
  IPR012117:Bifunctional molybdenum cofactor molybdenum incorporation/glycine receptor clustering protein
Gephyrin is a multifunctional protein found within higher eukaryotes that localises in patches below post-synaptic membranes . It is responsible for the post-synaptic anchoring of inhibitory glycine receptors to the cytoskeleton.nteracting with both the beta-subunit of the receptor and tubulin. It is also indirectly involved in the anchoring of gamma-aminobutyric acid type A receptors. Other proteins it has been shown to interact with include the actin-binding protein profillin.he DNA-activating protein kinase RAFT1.nd collybitsin. brain-specific guanine nucleotide exchange factor. Gephyrin also functions in molybdenum cofactor (Moco) biosynthesis.nd can reconstitute Moco biosynthesis in deficient bacterial.lant and murine cells. Mutation of the human and mouse gephyrin genes cause Moco deficiency and neurological abnormalities. The protein-binding functions of gephyrin are thought to be unrelated to its catalytic activity. Up to eleven splice variants of gephyrin exist and have been shown to be differentially expressed in different tissues.The gephyrin N- and C-terminal domains are homologous to the E. coli proteins MogA and MoeA.espectively.oth of which are involved in Moco biosynthesis.nd have similar folds . Full-length gephyrin can adopt different oligomeric states.hich may act at distinct stages of synapse formation and modification. It appears to be able to act as a convenient scaffold on which other proteins may assemble.hith conformational changes governing the movement of proteins.uch as the gylcine receptor.oth in and out of the scaffold.llowing dynamic clustering.
  IPR012194:Bifunctional molybdenum cofactor molybdenum incorporation/glycine receptor, gephyrin
IPR005110:MoeA_N 
Evalue:-72.7958831787109 
Location:323-489IPR001453:MoCF_biosynth 
Evalue:-48.1938209533691 
Location:502-645IPR001453:MoCF_biosynth 
Evalue:-40.2441253662109 
Location:18-164IPR005111:MoeA_C 
Evalue:-24.6777801513672 
Location:658-734
SequencesProtein: GEPH_HUMAN (736 aa)
mRNA: BC030016 NM_001024218 NM_020806
Local Annotation
Synapse Ontology
introduce the substructure of the synapse and the location where the molecule can be seen. It will contain all the constructive special organelle and molecule we known.
sdb:0001 Structure/Biochemistry of synapse  (Evidence:keywords)
microtubules of the presynaptic compartment function as the tracks for the intense traffic of organelles from cell body to axon terminals and vice versa. It is generally excluded from the presynaptic vesicle cluster.Microtubules do not directly regulate synapse morphology or function
sdb:0087 microtubules  (Evidence:keywords)
KO assignmentK03750
  Level 3 annotation:
    molybdopterin biosynthesis protein MoeA
  Level 2 annotation:
    Folate biosynthesis
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 396 residues, 66043877-66045062Exon2: 28 residues, 66217577-66217656Exon3: 21 residues, 66312934-66312992Exon4: 33 residues, 66360944-66361037Exon5: 33 residues, 66416409-66416504Exon6: 24 residues, 66452472-66452539Exon7: 93 residues, 66459135-66459408Exon8: 35 residues, 66460663-66460762Exon9: 47 residues, 66501660-66501795Exon10: 16 residues, 66560102-66560145Exon11: 48 residues, 66595118-66595256Exon12: 33 residues, 66625452-66625545Exon13: 20 residues, 66637325-66637381Exon14: 42 residues, 66646609-66646729Exon15: 21 residues, 66648330-66648389Exon16: 53 residues, 66649487-66649641Exon17: 42 residues, 66658725-66658847Exon18: 31 residues, 66679831-66679919Exon19: 26 residues, 66695884-66695958Exon20: 23 residues, 66701631-66701696Exon21: 36 residues, 66705402-66705506Exon22: 34 residues, 66716047-66716144Exon23: 336 residues, 66717273-66718276Exon24: 2 residues, -Jump to GEPH_HUMANExon1: 396 residues, 66043877-66045062Exon2: 28 residues, 66217577-66217656Exon3: 21 residues, 66312934-66312992Exon4: 33 residues, 66360944-66361037Exon5: 33 residues, 66416409-66416504Exon6: 24 residues, 66452472-66452539Exon7: 93 residues, 66459135-66459408Exon8: 47 residues, 66501660-66501795Exon9: 16 residues, 66560102-66560145Exon10: 48 residues, 66595118-66595256Exon11: 33 residues, 66625452-66625545Exon12: 20 residues, 66637325-66637381Exon13: 42 residues, 66646609-66646729Exon14: 21 residues, 66648330-66648389Exon15: 53 residues, 66649487-66649641Exon16: 42 residues, 66658725-66658847Exon17: 31 residues, 66679831-66679919Exon18: 26 residues, 66695884-66695958Exon19: 23 residues, 66701631-66701696Exon20: 36 residues, 66705402-66705506Exon21: 34 residues, 66716047-66716144Exon22: 336 residues, 66717273-66718276Exon23: 2 residues, -Jump to GEPH_HUMANExon1: 25 residues, 66044988-66045062Exon2: 28 residues, 66217577-66217656Exon3: 21 residues, 66312934-66312992Exon4: 33 residues, 66360944-66361037Exon5: 33 residues, 66416409-66416504Exon6: 24 residues, 66452472-66452539Exon7: 93 residues, 66459135-66459408Exon8: 35 residues, 66460663-66460762Exon9: 47 residues, 66501660-66501795Exon10: 16 residues, 66560102-66560145Exon11: 48 residues, 66595118-66595256Exon12: 33 residues, 66625452-66625545Exon13: 20 residues, 66637325-66637381Exon14: 42 residues, 66646609-66646729Exon15: 22 residues, 66648330-66648390Exon16: 53 residues, 66649488-66649641Exon17: 42 residues, 66658725-66658847Exon18: 31 residues, 66679831-66679919Exon19: 26 residues, 66695884-66695958Exon20: 23 residues, 66701631-66701696Exon21: 36 residues, 66705402-66705506Exon22: 34 residues, 66716047-66716144Exon23: 333 residues, 66717273-66718268Exon24: 2 residues, -Jump to GEPH_HUMAN  
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