Protein: Q9NQX3 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
Q9NQX3 (Uniprot)	GEPH_HUMAN	GPHN	Gephyrin	human	Yes

Protein Function

Uniprot: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molyb more..

Dissimilar Functions Manual Curation

Function 1: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions.

Function 2: Catalyzes two steps in the biosynthesis of the molybdenum cofactor.

Publications (PMID): 9990024, 12714060, 21738498

MoonDB Network Modules

Biological Processes

Showing 1 to 3 of 3 entries

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Module ID (MoonGO)	GO ID (BP)	GO Name
171	GO:0006464	cellular protein modification process
171	GO:0035556	intracellular signal transduction
171	GO:0009966	regulation of signal transduction

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Cellular Components

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Module ID (MoonGO)	GO ID (CC)	GO Name
171	GO:0005829	cytosol
171	GO:0005886	plasma membrane

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Protein GO Annotations

Biological Processes

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GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IBA
GO:0010038	response to metal ion	IMP
GO:0018315	molybdenum incorporation into molybdenum-molybdopterin complex	IBA
GO:0032324	molybdopterin cofactor biosynthetic process	TAS
GO:0055114	oxidation-reduction process	IEA
GO:0072579	glycine receptor clustering	IBA
GO:0097112	gamma-aminobutyric acid receptor clustering	IDA

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Cellular Components

Showing 1 to 6 of 6 entries

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005737	cytoplasm	IBA
GO:0005856	cytoskeleton	IEA
GO:0005886	plasma membrane	TAS
GO:0030054	cell junction	IEA
GO:0030425	dendrite	IDA
GO:0045211	postsynaptic membrane	IDA

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
ACADV_HUMAN	No
ARHG9_HUMAN	No
DYL1_HUMAN	No
KHDR1_HUMAN	No
MITD1_HUMAN	No
PSA1_HUMAN	No
SPAS1_HUMAN	No

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Publications Associated

Showing 1 to 10 of 17 entries

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PMID	Article Title
10718198	Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
10839351	Autoimmunity to gephyrin in Stiff-Man syndrome.
11095995	A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
11418245	The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.
11554796	Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications.
12684523	Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
15489334	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
16964243	A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
18669648	A quantitative atlas of mitotic phosphorylation.
19690332	Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

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OMIM Diseases Associated

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OMIM ID	Disease Name
615501	Molybdenum cofactor deficiency, complementation group C

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Protein Domains Associated

Showing 1 to 10 of 21 entries

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Domain Name	Domain ID	Source
MoaB/Mog-like_dom_sf	IPR036425	InterPro
MoaB/Mog_dom	IPR001453	InterPro
MoCF_biosynth	PF00994	Pfam
MoCF_biosynth	SM00852	SMART
MoCF_biosynth_CS	IPR008284	InterPro
MOCF_BIOSYNTHESIS_1	PS01078	PROSITE
MOCF_BIOSYNTHESIS_2	PS01079	PROSITE
MoeA	cd00887	CDD
MoeA-like	IPR038987	InterPro
MoeA_C	PF03454	Pfam

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