CNTNAP1

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]

Description

Contactin associated protein 1

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (42682531 - 42699993)

Ensembl ID

ENSG00000108797  (ver. 103.38)

Orthologs

Mouse Cntnap1: ENSMUSG00000017167

UniProt

P78357

neXtProt

NX_P78357

Human splice variants
Mouse splice variants

Protein structure