Aliases for CNTNAP1 Gene
External Ids for CNTNAP1 Gene
Previous HGNC Symbols for CNTNAP1 Gene
Previous GeneCards Identifiers for CNTNAP1 Gene
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
GeneCards Summary for CNTNAP1 Gene
CNTNAP1 (Contactin Associated Protein 1) is a Protein Coding gene. Diseases associated with CNTNAP1 include Lethal Congenital Contracture Syndrome 7 and Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect. Among its related pathways are Developmental Biology and Neuroscience. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.
UniProtKB/Swiss-Prot for CNTNAP1 Gene
Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.