NP_001019389.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Observed: 80 kDa Predicted: 80 kDa
NCBI Official Full Name
gephyrin isoform 2
NCBI Official Synonym Full Names
gephyrin
NCBI Official Synonym Symbols
GPH; GEPH; HKPX1; GPHRYN; MOCODC [Similar Products]
NCBI Protein Information
gephyrin
UniProt Protein Name
Gephyrin
UniProt Synonym Protein Names
Molybdopterin adenylyltransferase (EC:2.7.7.751 PublicationManual assertion inferred by curator fromiRef.17"Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy."EuroEPINOMICS Dravet working groupDejanovic B., Djemie T., Gruenewald N., Suls A., Kress V., Hetsch F., Craiu D., Zemel M., Gormley P., Lal D., Myers C.T., Mefford H.C., Palotie A., Helbig I., Meier J.C., De Jonghe P., Weckhuysen S., Schwarz G.EMBO Mol. Med. 7:1580-1594(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MOCODC ASP-375, CHARACTERIZATION OF MOCODC VARIANTS ASP-375 AND ALA-580, INTERACTION WITH GABRA3 AND GLRB, SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, CATALYTIC ACTIVITY, PATHWAY.
UniProt Synonym Gene Names
NCBI Summary for GPHN
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]
UniProt Comments for GPHN
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.
Research Articles on GPHN
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Products associated with anti-GPHN antibody
Pathways associated with anti-GPHN antibody
Diseases associated with anti-GPHN antibody
Organs/Tissues associated with anti-GPHN antibody
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