Biology:CASPR
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CASPR also known as Contactin associated protein 1, Paranodin and CASPR1 is a protein that in humans is encoded by the CNTNAP1 gene.[1]
CASPR is a part of the neurexin family of proteins, hence its another name "Neurexin IV".[2] CASPR is a membrane protein found in the neuronal membrane in the paranodal section of the axon[[]] in myelinated neurons, between the Nodes of Ranvier containing Na+ channels, and juxtaparanode, which contains K+ channels.[3] During myelination, caspr associates with contactin in a cis complex,[3] though its precise role in myelination is not yet understood.
Function
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].
Clinical
Mutations in CNTNAP1 cause arthrogryposis multiplex congenita.[4]
Other diseases associated with mutations in this gene include lethal congenital contracture syndrome type 7 and congenital hypomyelinating neuropathy type 3.[5]
References
- ↑ "Entrez Gene: Contactin associated protein 1". https://www.ncbi.nlm.nih.gov/gene/8506.
- ↑ "OMIM Entry- * 602346 - CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1" (in en-us). https://omim.org/entry/602346.
- ↑ 3.0 3.1 Rios, Jose C.; Melendez-Vasquez, Carmen V.; Einheber, Steven; Lustig, Marc; Grumet, Martin; Hemperly, John; Peles, Elior; Salzer, James L. (15 November 2000). "Contactin-Associated Protein (Caspr) and Contactin Form a Complex That Is Targeted to the Paranodal Junctions during Myelination". J. Neurosci. 20 (22): 8354–8364. doi:10.1523/JNEUROSCI.20-22-08354.2000. PMID 11069942.
- ↑ "Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects". Human Molecular Genetics 23 (9): 2279–89. May 2014. doi:10.1093/hmg/ddt618. PMID 24319099.
- ↑ Sabbagh S, Antoun S, Mégarbané A (2020) CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case Rep Med 2020:8795607.
Further reading
- "Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration". Journal of Proteome Research 11 (4): 2533–43. April 2012. doi:10.1021/pr2012279. PMID 22360420.
- "Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study". Human Genetics 132 (3): 323–36. March 2013. doi:10.1007/s00439-012-1246-3. PMID 23192594.
- "Structural determinants required for the interaction between Rho GTPase and the GTPase-activating domain of p190". The Journal of Biological Chemistry 272 (52): 32830–5. December 1997. doi:10.1074/jbc.272.52.32830. PMID 9407060.
- "Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women". Carcinogenesis 30 (9): 1528–31. September 2009. doi:10.1093/carcin/bgp084. PMID 19372141.
- "Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions". The EMBO Journal 16 (5): 978–88. March 1997. doi:10.1093/emboj/16.5.978. PMID 9118959.
- "Identification of novel γ-secretase-associated proteins in detergent-resistant membranes from brain". The Journal of Biological Chemistry 287 (15): 11991–2005. April 2012. doi:10.1074/jbc.M111.246074. PMID 22315232.
- "Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies". NeuroReport 12 (11): 2609–14. August 2001. doi:10.1097/00001756-200108080-00063. PMID 11496158.
- "Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction". Current Biology 12 (3): 217–20. February 2002. doi:10.1016/S0960-9822(01)00680-7. PMID 11839274.
- "Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization". The EMBO Journal 22 (21): 5666–78. November 2003. doi:10.1093/emboj/cdg570. PMID 14592966.
External links
- Human CNTNAP1 genome location and CNTNAP1 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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