CASPR

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)
End	42,699,993 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	101,081,550 bp
RNA expression pattern
	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
	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
	8506
	53321
	ENSG00000108797
	ENSMUSG00000017167
	P78357
	O54991
	NM_003632
	NM_016782
	NP_003623
	NP_058062
	Wikidata
View/Edit Human	View/Edit Mouse

Contactin associated protein 1 is a protein that in humans is encoded by the CNTNAP1 gene.^[5]

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].

Mutations in CNTNAP1 cause Template:SWL.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108797 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017167 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Contactin associated protein 1".
^ 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.

Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S (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, Kusimo I, Vitolins MZ, Manson JE, O'Sullivan MJ, Rampersaud E, Edwards TL (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Lee JY, Park AK, Lee KM, Park SK, Han S, Han W, Noh DY, Yoo KY, Kim H, Chanock SJ, Rothman N, Kang D (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, Plowman GD, Schlessinger J (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, Hashimoto M, Winblad B, Frykman S, Tjernberg LO (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Venken K, Meuleman J, Irobi J, Ceuterick C, Martini R, De Jonghe P, Timmerman V (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.
Charles P, Tait S, Faivre-Sarrailh C, Barbin G, Gunn-Moore F, Denisenko-Nehrbass N, Guennoc AM, Girault JA, Brophy PJ, Lubetzki C (February 2002). "Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction". Current Biology. 12 (3): 217–20. doi:10.1016/S0960-9822(01)00680-7. PMID 11839274.
Nie DY, Zhou ZH, Ang BT, Teng FY, Xu G, Xiang T, Wang CY, Zeng L, Takeda Y, Xu TL, Ng YK, Faivre-Sarrailh C, Popko B, Ling EA, Schachner M, Watanabe K, Pallen CJ, Tang BL, Xiao ZC (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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108797 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Contactin associated protein 1".

[6] 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.

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Function

References

Further reading