Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein GPHN

gephyrin
13 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K03750
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
GEPH; GPH; GPHRYN; KIAA1385; Gephyrin isoform 2; Gephyrin isoform 1; MLL/GPH fusion gene
Approved Symbol:
GPHN
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 25
Human (de-) phosphorylation sites: 25; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Formic Acid(db);
  • Imidazole(db);
  • Propanoic Acid(db)

    Associated Genetic Diseases:

  • Hyperekplexia(Pd);
  • Molybdenum cofactor deficiency, complementation group C(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04893 Entrez Gene ID: 10243 OMIM ID: 603930 Swissprot Accession: Q9NQX3;