Protein: Q9NQX3

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
Q9NQX3 (Uniprot) GEPH_HUMAN GPHN Gephyrin human Yes
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, molybdate is inserted into adenylated molybdopterin and AMP is released. 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

Biological Processes
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
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
171 GO:0005829 cytosol
171 GO:0005886 plasma membrane
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
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
No pairs of PrOnto dissimilar CC GO terms found.
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.
20068231 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
21269460 Initial characterization of the human central proteome.
21406692 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
22040219 A GPHN point mutation leading to molybdenum cofactor deficiency.
23186163 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
24275569 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
26613940 Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
OMIM ID Disease Name
615501 Molybdenum cofactor deficiency, complementation group C
Domain Name Domain ID Source
MoaB/Mog_dom IPR001453 InterPro
MoeA_linker/N IPR005110 InterPro
MoeA_C_domain_IV IPR005111 InterPro
MoCF_biosynth_CS IPR008284 InterPro
MoeA_linker/N_sf IPR036135 InterPro
MoaB/Mog-like_dom_sf IPR036425 InterPro
MoeA_C_domain_IV_sf IPR036688 InterPro
MoeA-like IPR038987 InterPro
MoCF_biosynth PF00994 Pfam
MoeA_N PF03453 Pfam
MoeA_C PF03454 Pfam
MOCF_BIOSYNTHESIS_1 PS01078 PROSITE
MOCF_BIOSYNTHESIS_2 PS01079 PROSITE
PTHR10192 PTHR10192 PANTHER
MoCF_biosynth SM00852 SMART
SSF53218 SSF53218 SUPFAM
SSF63867 SSF63867 SUPFAM
SSF63882 SSF63882 SUPFAM
molyb_syn TIGR00177 TIGRFAMs
MogA_MoaB cd00886 CDD
MoeA cd00887 CDD