Nephrin - CISMeF

Preferred Label : Nephrin;

NCIt synonyms : NPHS1; Renal Glomerulus-Specific Cell Adhesion Receptor;

NCIt definition : Nephrin (1241 aa, 135 kDa) is encoded by the human NPHS1 gene. This protein plays a role in cell-cell adhesion in the slit diaphragm and during myogenesis.;

Details

Origin ID

C189788;

UMLS CUI

C1570583;

Automatic exact mappings (from CISMeF team)
- NPHS1 adhesion molecule, nephrin [ORDO Gene]
- Nephrin [OMIM gene]
- Nephrotic syndrome, type 1 [OMIM Phenotype]
- nephrin [MeSH concept]
OMIM relation
- Nephrin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- NPHS1 protein, human [MeSH concept]
gene_encodes_gene_product
- Cell Adhesion Molecule Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- NPHS1 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
- Podocyte [NCIt concept]
gene_product_has_chemical_classification
- Immunoglobulin Family Protein [NCIt concept]
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Immunoglobulin-Like C2-Type Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_biomarker_type
- Cluster of Differentiation [NCIt concept]
gene_product_is_element_in_pathway
- Nephrin Signaling Pathway in the Kidney Podocyte [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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