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GPHN

Enables several functions, including identical protein binding activity; molybdopterin adenylyltransferase activity; and molybdopterin molybdotransferase activity. Involved in establishment of protein localization; neurotransmitter receptor localization to postsynaptic specialization membrane; and synapse assembly. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process. Located in cytoplasm; inhibitory synapse; and postsynaptic specialization. Is extrinsic component of cytoplasmic side of plasma membrane. Is active in glycinergic synapse and postsynaptic specialization, intracellular component. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Group enriched (Inhibitory neurons, Excitatory neurons, Oligodendrocytes, Oligodendrocyte precursor cells, Astrocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Homotrimer, homodimer and homooligomer (PubMed:26613940). Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). Interacts with GABRA3 (PubMed:26613940). Interacts with GLRB (PubMed:26613940, PubMed:12684523). GABRA3 and GLRB occupy overlapping binding sites (By similarity). Interacts with ARHGAP32; IQSEC3, INSYN1 and INSYN2A (By similarity).

Molecular function

Multifunctional enzyme, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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