Tbio GPHN Gephyrin

Protein Summary

Description

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. 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 Accession IDs

• Q9NQX3
• Q96KU4
• Q9H4E9
• Q9P2G2

Gene Name

• GPHN

Ensembl ID

• ENST00000315266
• ENSP00000312771
• ENSG00000171723
• ENST00000478722
• ENSP00000417901

Symbol

• GPH
• KIAA1385
• GPH
• GEPH
• HKPX1
• GPHRYN
• MOCODC

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.93
transcription factor binding site profile	0.91
transcription factor perturbation	0.8
kinase perturbation	0.76
virus perturbation	0.72

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 648.82   (req: < 5)

Gene RIFs: 31   (req: <= 3)

Antibodies: 343   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 648.82   (req: >= 5)

Gene RIFs: 31   (req: > 3)

Antibodies: 343   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0