Preferred Label : Contactin-Associated Protein 1;
NCIt synonyms : CNTNAP1 Protein; CNTNAP1; Neurexin 4; Contactin Associated Protein-1; Neurexin-4; Contactin-Associated Protein; Caspr; p190; Contactin Associated Protein 1; Neurexin IV; Contactin-Associated Transmembrane Receptor p190;
NCIt related terms : Caspr1; NRXN4;
NCIt definition : Contactin-associated protein 1 (1384 aa, 156 kDa) is encoded by the human CNTNAP1
gene. This protein is involved in neuronal signaling.;
Alternative definition : CDISC: An antigen encoded by the CNTNAP1 gene and is involved in the organization
of myelinated axons and neuronal signaling. It can be considered as an autoantigen
and is commonly associated with autoimmune neuropathies.;
NCIt note : Contactin Associated Protein 1, encoded by the human CNTNAP1 gene, was initially identified
as a 190-kD protein associated with the contactin-PTPRZ1 complex. This transmembrane
protein includes an extracellular domain with several putative protein-protein interaction
domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain.
This protein may be the signaling subunit of contactin, enabling recruitment and activation
of intracellular signaling pathways in neurons. This gene is transcribed predominantly
in brain as a transcript of 6.2 kb, with weak expression in several other tissues
tested. The protein is predominantly expressed in brain and weak expression is detected
in ovary, pancreas, colon, lung, heart, intestine and testis.;
Origin ID : C25999;
UMLS CUI : C1259328;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_expressed_in_tissue
- gene_product_has_biochemical_function
- gene_product_has_chemical_classification
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
