Contactin-Associated Protein 1

Alternative Names

  • CNTNAP1
  • Contactin-Associated Protein
  • CASPR
  • Contactin-Associated Transmembrane Receptor
  • p190
  • Neurexin IV
  • NRXN4
  • Paranodin
  • NCP1
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OMIM Number

602346

NCBI Gene ID

8506

Uniprot ID

P78357

Length

17,463 bases

No. of Exons

25

No. of isoforms

1

Protein Name

Contactin-associated protein 1

Molecular Mass

156267 Da

Amino Acid Count

1384

Genomic Location

chr17:42,682,531-42,699,993

Gene Map Locus
17q21.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003632.3:c.1561dupQatarNC_000017.11:g.42688980dupPathogenicPathogenicLethal Congenital Contracture Syndrome 7NG_042091.1:g.11367dup; NM_003632.3:c.1561dup; NP_003623.1:p.Leu521ProfsTer121555642784254173
NM_003632.3:c.3361C>TLebanonNC_000017.11:g.42696039C>TPathogenicPathogenicLethal Congenital Contracture Syndrome 7NG_042091.1:g.18426C>T; NM_003632.3:c.3361C>T; NP_003623.1:p.Arg1121Ter1427565491219168
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