• Gene id: 10243

Gene Summary

• Gene Symbol: GPHN   Gene   UCSC   Ensembl
• Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Gene name: gephyrin
• Alternate names: gephyrin,
• Gene location: 14q23.3-q24.1 (66507933: 67181804)     Exons: 37     NC_000014.9
• Gene summary(Entrez): 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 als
• OMIM: 603930

Protein Summary

• Protein general information: Q9NQX3  
  • Name: 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)]
  • Length: 736  
  • Mass: 79748
• Sequence:

  MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCD
  EKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKG
  SQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVA
  STEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL
  RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDG
  YAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQ
  ARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDS
  NRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF
  MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHR
  CILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL

• Structural information:
  • Interpro: IPR036425  IPR001453  IPR008284  IPR038987  IPR005111   IPR036688  IPR005110  IPR036135  
  • Prosite: PS01078 PS01079
  • CDD: cd00887 cd00886
  • PDB: 1JLJ
  • PDBsum: 1JLJ
  • DIP: 41076
  • STRING: ENSP00000417901
• Other Databases: GeneCards:  GPHN  Malacards:  GPHN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0061598	molybdopterin adenylyltransferase activity	IBA	molecular function
GO:0061599	molybdopterin molybdotransferase activity	IBA	molecular function
GO:0072579	glycine receptor clustering	IBA	biological process
GO:0097112	gamma-aminobutyric acid receptor clustering	IBA	biological process
GO:0099572	postsynaptic specialization	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IBA	biological process
GO:0007529	establishment of synaptic specificity at neuromuscular junction	IBA	biological process
GO:0018315	molybdenum incorporation into molybdenum-molybdopterin complex	IBA	biological process
GO:0032324	molybdopterin cofactor biosynthetic process	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping	IBA	biological process
GO:0045211	postsynaptic membrane	IDA	cellular component
GO:0032324	molybdopterin cofactor biosynthetic process	IDA	biological process
GO:0097112	gamma-aminobutyric acid receptor clustering	IDA	biological process
GO:0030425	dendrite	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014069	postsynaptic density	ISS	cellular component
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0032324	molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061598	molybdopterin adenylyltransferase activity	IEA	molecular function
GO:0061599	molybdopterin molybdotransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0032324	molybdopterin cofactor biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0099634	postsynaptic specialization membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0010038	response to metal ion	IMP	biological process
GO:0032324	molybdopterin cofactor biosynthetic process	IMP	biological process
GO:0008940	nitrate reductase activity	IMP	molecular function
GO:0043546	molybdopterin cofactor binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04727	GABAergic synapse
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Molybdenum cofactor deficiency	KEGG:H02311
Molybdenum cofactor deficiency	KEGG:H02311
inherited metabolic disorder	PMID:12754701
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq