Gephyrin - CISMeF

Preferred Label : Gephyrin;

NCIt synonyms : GPHN; MPT Adenylyltransferase; Domain G; Molybdopterin Molybdenumtransferase; EC 2.-.-.-; Domain E; EC 2.7.7.n5; MPT Mo-Transferase; Molybdopterin Adenylyltransferase;

NCIt definition : Gephyrin (736 aa, 80 kDa) is encoded by the human GPHN gene. This protein is involved in biosynthesis of the molybdenum cofactor.;

NCIt note : The molybdopterin adenylyltransferase and molybdopterin molybdenumtransferase activity reside in separate domains of the gephyrin protein. (UniProt);

Details

Origin ID

C97527;

UMLS CUI

C5441772;

Automatic exact mappings (from CISMeF team)
- Gephyrin [OMIM gene]
- Melanocytic nevus syndrome, congenital [OMIM Phenotype]
- gephyrin [MeSH concept]
- gephyrin [MeSH Supplementary Concept]
- gephyrin [ORDO Gene]
- gephyrin [HGNC gene]
OMIM relation
- Gephyrin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- gephyrin [MeSH Supplementary Concept]
- gephyrin [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GPHN Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
gene_product_has_biochemical_function
- Nucleotidyltransferase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- GABA Receptor Life Cycle Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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