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gephyrin

Summary

Gene Symbol

GPHN

Organism

Homo sapiens (human)

External Links

NCBI Gene

10243

PubChem

10243

Alliance of Genome Resources

HGNC:15465

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Cell membrane
Cell projection
Cytoskeleton
Disease variant
Magnesium
Metal-binding
Molybdenum
Molybdenum cofactor biosynthesis
Multifunctional enzyme
Palmitate
Phosphoprotein
Postsynaptic cell membrane
Reference proteome
Transferase

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9NQX3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
Mo-molybdopterin cofactor biosynthetic process	IBA
establishment of synaptic specificity at neuromuscular junction	IBA
response to metal ion	IMP	9990024
molybdopterin cofactor biosynthetic process	IDA	26613940
molybdopterin cofactor biosynthetic process	IMP	9990024

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organonitrogen compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic substance biosynthetic process [inference]

organophosphate biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic cyclic compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organonitrogen compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organophosphate metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organophosphate biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

heterocycle metabolic process [inference]

heterocycle biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

prosthetic group metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic substance metabolic process [inference]

organophosphate metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organophosphate biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic cyclic compound metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic cyclic compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organonitrogen compound metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organonitrogen compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic substance biosynthetic process [inference]

organophosphate biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organic cyclic compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organonitrogen compound biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organophosphate metabolic process [inference]

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

organophosphate biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

heterocycle metabolic process [inference]

heterocycle biosynthetic process [inference]

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor metabolic process [inference]

Mo-molybdopterin cofactor biosynthetic process

molybdopterin cofactor biosynthetic process

Mo-molybdopterin cofactor biosynthetic process

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

receptor clustering [inference]

neurotransmitter-gated ion channel clustering [inference]

receptor diffusion trapping [inference]

neurotransmitter receptor diffusion trapping [inference]

postsynaptic neurotransmitter receptor diffusion trapping

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering [inference]

neurotransmitter-gated ion channel clustering [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell junction organization [inference]

synapse organization [inference]

establishment of synaptic specificity at neuromuscular junction

response to stimulus [inference]

response to chemical [inference]

response to inorganic substance [inference]

response to metal ion

localization [inference]

protein-containing complex localization [inference]

receptor localization to synapse [inference]

postsynaptic neurotransmitter receptor diffusion trapping

receptor diffusion trapping [inference]

neurotransmitter receptor diffusion trapping [inference]

postsynaptic neurotransmitter receptor diffusion trapping

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering [inference]

neurotransmitter-gated ion channel clustering [inference]

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

receptor clustering [inference]

neurotransmitter-gated ion channel clustering [inference]

receptor diffusion trapping [inference]

neurotransmitter receptor diffusion trapping [inference]

postsynaptic neurotransmitter receptor diffusion trapping

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering [inference]

neurotransmitter-gated ion channel clustering [inference]

biological regulation [inference]

regulation of biological quality [inference]

regulation of postsynaptic membrane neurotransmitter receptor levels [inference]

postsynaptic neurotransmitter receptor diffusion trapping

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GO Term	Evidence Code	PMID
cytoplasm	IBA
cytosol	ISS
cytosol	IBA
cytoskeleton	IEA
plasma membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

plasma membrane region [inference]

synaptic membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

dendrite

neuron spine [inference]

dendritic spine

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

postsynaptic specialization

postsynaptic density

postsynapse [inference]

dendritic spine

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
protein binding	IPI	21094642 26613940 27173435 32296183 33961781 35271311
ATP binding	IEA
nitrate reductase activity	IMP	9990024
protein-macromolecule adaptor activity	IMP	25025157
identical protein binding	IDA	25025157

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on other nitrogenous compounds as donors [inference]

nitrate reductase activity

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

nucleotidyltransferase activity [inference]

adenylyltransferase activity [inference]

molybdopterin adenylyltransferase activity

molybdopterin molybdotransferase activity

binding [inference]

protein binding

identical protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

cation binding [inference]

metal ion binding

organic cyclic compound binding [inference]

molybdopterin cofactor binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

gephyrin

Functional Category

H: Coenzyme transport and metabolism
K: Transcription
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

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Gene Ontology
ATP binding
Mo-molybdopterin cofactor biosynthetic process
establishment of synaptic specificity at neuromuscular junction
gamma-aminobutyric acid receptor clustering
glycine receptor clustering
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin cofactor biosynthetic process
molybdopterin molybdotransferase activity
organic cyclic compound metabolic process

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0111166	molybdenum cofactor deficiency type C	Alliance of Genome Resources
DOID:655	inherited metabolic disorder	Alliance of Genome Resources

Ortholog

Displaying entries **31 - 40** of 68 in total

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Species	Gene ID	Orthologous MAtrix
Capra hircus	102191246	CAPHI00272
Latimeria chalumnae	102346974	LATCH16699
Myotis lucifugus	102425143	MYOLU06380
Pelodiscus sinensis	102448448	PELSI09763
Astyanax mexicanus	103041549	ASTMX03281
Astyanax mexicanus	103044768	ASTMX01275
Callorhinchus milii	103175216	CALMI07233
Chlorocebus sabaeus	103229192	CHLSB11533
Ursus maritimus	103672025	URSMA03022
Nannospalax galili	103749283	NANGA08061

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OrthoDB (Group)

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Acknowledgements