Homo sapiens Gene: GPHN
Summary
InnateDB Gene IDBG-9743.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GPHN
Gene Name gephyrin
Synonyms GEPH; GPH; GPHRYN; HKPX1; MOCODC;
Species Homo sapiens
Ensembl Gene ENSG00000171723
Encoded Proteins
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
gephyrin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:66507407-67181803
Strand Forward strand
Band q23.3
Transcripts
ENST00000315266 ENSP00000312771
ENST00000478722 ENSP00000417901
ENST00000459628 ENSP00000452220
ENST00000543237 ENSP00000438404
ENST00000555668 ENSP00000451935
ENST00000556633 ENSP00000451056
ENST00000557654 ENSP00000451790
ENST00000553936 ENSP00000451725
ENST00000556020
ENST00000544752
ENST00000555456 ENSP00000450706
ENST00000556501
ENST00000555527
ENST00000555503 ENSP00000452009
ENST00000557678
ENST00000556240 ENSP00000450442
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 22 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061598 molybdopterin adenylyltransferase activity
GO:0061599 molybdopterin molybdotransferase activity
Biological Process
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:0032324 molybdopterin cofactor biosynthetic process
GO:0044281 small molecule metabolic process
GO:0072579 glycine receptor clustering
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
GO:0060077 inhibitory synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Molybdenum cofactor biosynthesis pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID BIOCARTA
Gamma-aminobutyric acid receptor life cycle pathway [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.208765 Hs.615368
RefSeq NM_001024218 NM_020806
HUGO
OMIM
CCDS CCDS32103 CCDS9777
HPRD 04893
IMGT
EMBL
GenPept
RNA Seq Atlas