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CNTNAP1
Identifiers
Aliases	CNTNAP1, CASPR, CNTNAP, NRXN4, P190, contactin associated protein 1, CHN3
External IDs	OMIM: 602346; MGI: 1858201; HomoloGene: 2693; GeneCards: CNTNAP1; OMA:CNTNAP1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.2 Start 42,682,531 bp End 42,699,993 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 101,061,349 bp End 101,081,550 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum Region I of hippocampus proper postcentral gyrus right frontal lobe Brodmann area 46 superior frontal gyrus orbitofrontal cortex lateral nuclear group of thalamus prefrontal cortex Brodmann area 9 Top expressed in superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex cerebellar cortex neural layer of retina zygote lumbar subsegment of spinal cord perirhinal cortex secondary oocyte entorhinal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function SH3 domain binding protein binding signaling receptor activity Cellular component integral component of membrane membrane myelin sheath voltage-gated potassium channel complex integral component of plasma membrane axon paranode region of axon cell junction paranodal junction presynaptic active zone membrane Biological process neuromuscular process controlling posture neuromuscular process controlling balance protein localization to paranode region of axon cell adhesion cytoskeleton organization neuronal action potential propagation neuron projection development signal transduction positive regulation of signal transduction central nervous system myelination myelination in peripheral nervous system paranodal junction assembly neuron projection morphogenesis protein localization to juxtaparanode region of axon Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8506 53321 Ensembl ENSG00000108797 ENSMUSG00000017167 UniProt P78357 O54991 RefSeq (mRNA) NM_003632 NM_016782 RefSeq (protein) NP_003623 NP_058062 Location (UCSC) Chr 17: 42.68 – 42.7 Mb Chr 11: 101.06 – 101.08 Mb PubMed search
Wikidata
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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. CASPR is a part of the neurexin family of proteins, hence its another name "Neurexin IV". 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. During myelination, caspr associates with contactin in a cis complex, 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. .

Clinical

Mutations in CNTNAP1 cause arthrogryposis multiplex congenita.

Other diseases associated with mutations in this gene include lethal congenital contracture syndrome type 7 and congenital hypomyelinating neuropathy type 3.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000108797 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000017167 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Contactin associated protein 1".
6. "OMIM Entry- * 602346 - CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1". omim.org. Retrieved 2017-04-27.
7. ^ Rios JC, Melendez-Vasquez CV, Einheber S, Lustig M, Grumet M, Hemperly J, et al. (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. PMC 6773165. PMID 11069942.
8. Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, et al. (May 2014). "Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects". Human Molecular Genetics. 23 (9): 2279–89. doi:10.1093/hmg/ddt618. PMID 24319099.
9. 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

• Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, et al. (April 2012). "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. doi:10.1021/pr2012279. PMID 22360420.
• Velez Edwards DR, Naj AC, Monda K, North KE, Neuhouser M, Magvanjav O, et al. (March 2013). "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. doi:10.1007/s00439-012-1246-3. PMC 3704217. PMID 23192594.
• Li R, Zhang B, Zheng Y (December 1997). "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. doi:10.1074/jbc.272.52.32830. PMID 9407060.
• Lee JY, Park AK, Lee KM, Park SK, Han S, Han W, et al. (September 2009). "Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women". Carcinogenesis. 30 (9): 1528–31. doi:10.1093/carcin/bgp084. PMID 19372141.
• Peles E, Nativ M, Lustig M, Grumet M, Schilling J, Martinez R, et al. (March 1997). "Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions". The EMBO Journal. 16 (5): 978–88. doi:10.1093/emboj/16.5.978. PMC 1169698. PMID 9118959.
• Hur JY, Teranishi Y, Kihara T, Yamamoto NG, Inoue M, Hosia W, et al. (April 2012). "Identification of novel γ-secretase-associated proteins in detergent-resistant membranes from brain". The Journal of Biological Chemistry. 287 (15): 11991–2005. doi:10.1074/jbc.M111.246074. PMC 3320946. PMID 22315232.
• Venken K, Meuleman J, Irobi J, Ceuterick C, Martini R, De Jonghe P, et al. (August 2001). "Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies". NeuroReport. 12 (11): 2609–14. doi:10.1097/00001756-200108080-00063. PMID 11496158. S2CID 28331998.
• Charles P, Tait S, Faivre-Sarrailh C, Barbin G, Gunn-Moore F, Denisenko-Nehrbass N, et al. (February 2002). "Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction". Current Biology. 12 (3): 217–20. Bibcode:2002CBio...12..217C. doi:10.1016/S0960-9822(01)00680-7. PMID 11839274. S2CID 18017227.
• Nie DY, Zhou ZH, Ang BT, Teng FY, Xu G, Xiang T, et al. (November 2003). "Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization". The EMBO Journal. 22 (21): 5666–78. doi:10.1093/emboj/cdg570. PMC 275427. 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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