Gphn - gephyrin Gene

Also Known as Geph

Species: Rattus norvegicus

Gene Type: protein coding

Gene ID: 64845

Summary

Enables several functions, including identical protein binding activity; molybdopterin adenylyltransferase activity; and molybdopterin molybdotransferase activity. Involved in establishment of protein localization; neurotransmitter receptor localization to postsynaptic specialization membrane; and synapse assembly. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process. Located in cytoplasm; inhibitory synapse; and postsynaptic specialization. Is extrinsic component of cytoplasmic side of plasma membrane. Is active in glycinergic synapse and postsynaptic specialization, intracellular component. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Apr 2022]

Gphn Products (1)

mRNA	Protein	Name
NM_022865.4	NP_074056.2	gephyrin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	14976213	RGD
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	10844024	RGD
enables molybdopterin adenylyltransferase activity	IDA IDA: Inferred from direct assay	23163752	RGD
enables molybdopterin molybdotransferase activity	IDA IDA: Inferred from direct assay	23163752	RGD
enables protein binding	IPI IPI: Inferred from physical interaction	10607391	RGD
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	14976213	RGD

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within Mo-molybdopterin cofactor biosynthetic process	IDA IDA: Inferred from direct assay	23163752	RGD
involved in establishment of protein localization	IMP IMP: Inferred from mutant phenotype	19914352	RGD
involved in neurotransmitter receptor localization to postsynaptic specialization membrane	IDA IDA: Inferred from direct assay	8264797	RGD
involved in neurotransmitter receptor localization to postsynaptic specialization membrane	IMP IMP: Inferred from mutant phenotype	8264797	RGD
involved in synapse assembly	IEP IEP: Inferred from expression pattern	9130666	RGD

Cellular Component GO Annotation	Evidence	References	Source
located in GABA-ergic synapse	IDA IDA: Inferred from direct assay	18315564	RGD
located in cytoplasm	IDA IDA: Inferred from direct assay	12684523	RGD
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	12684523	RGD
is active in glycinergic synapse	IDA IDA: Inferred from direct assay	8264797	RGD
is active in glycinergic synapse	IMP IMP: Inferred from mutant phenotype	8264797	RGD
located in inhibitory synapse	IDA IDA: Inferred from direct assay	18550748	RGD
located in postsynapse	IDA IDA: Inferred from direct assay	18315564	RGD
is active in postsynaptic specialization, intracellular component	IDA IDA: Inferred from direct assay	9714149	RGD

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
gephyrin	putative glycine receptor-tubulin linker protein

Gphn Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	Gphn	Q03555	Glrb	Mus musculus	P48168	ITC	21829170

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05638	GPHN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Gphn	NCBI	NCBI:10243