AAF81785.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
83,448 Da
NCBI Official Full Name
gephyrin
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:2.7.7.75); MPT adenylyltransferaseAlternative name(s):Domain G
UniProt Synonym Gene Names
UniProt Entry Name
GEPH_HUMAN
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
gephyrin: 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. Homotrimer. Interacts with GABARAP. Inhibited by copper and tungsten. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Adaptor/scaffold; EC 2.10.1.1; EC 2.7.7.75
Chromosomal Location of Human Ortholog: 14q23.3
Cellular Component: cell junction; cytoplasm; cytoskeleton; plasma membrane; postsynaptic membrane
Molecular Function: ATP binding; metal ion binding
Biological Process: establishment of synaptic specificity at neuromuscular junction; Mo-molybdopterin cofactor biosynthetic process; molybdenum incorporation into molybdenum-molybdopterin complex; molybdopterin cofactor biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process
Disease: Hyperekplexia, Hereditary 1; Molybdenum Cofactor Deficiency, Complementation Group C
Research Articles on GPHN
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Products associated with GPHN elisa kit
Pathways associated with GPHN elisa kit
Diseases associated with GPHN elisa kit
Organs/Tissues associated with GPHN elisa kit
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