NFASC
Protein-coding gene in the species Homo sapiens
Neurofascin is a protein that in humans is encoded by the NFASC gene .[ 5] [ 6] [ 7]
Function
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM ) involved in axon subcellular targeting and synapse formation during neural development .[ 7] [ 8]
Clinical importance
A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.[ 9]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000163531 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026442 – 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 .^ Volkmer H, Hassel B, Wolff JM, Frank R, Rathjen FG (July 1992). "Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily" . The Journal of Cell Biology . 118 (1): 149–61. doi :10.1083/jcb.118.1.149 . PMC 2289533 PMID 1377696 . ^ Burmeister M, Ren Q, Makris GJ, Samson D, Bennett V (July 1996). "Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes". Mammalian Genome . 7 (7): 558–9. doi :10.1007/s003359900168 . PMID 8672144 . S2CID 29190292 . ^ a b "Entrez Gene: NFASC neurofascin homolog (chicken)" .^ Ango F, di Cristo G, Higashiyama H, Bennett V, Wu P, Huang ZJ (October 2004). "Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment" . Cell . 119 (2): 257–72. doi :10.1016/j.cell.2004.10.004 PMID 15479642 . S2CID 16245348 . ^ Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R (August 2018). "Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia" . Human Molecular Genetics . 27 (21): 3669–3674. doi :10.1093/hmg/ddy277 . PMC 6196652 PMID 30124836 .
Further reading
Hortsch M (October 1996). "The L1 family of neural cell adhesion molecules: old proteins performing new tricks" . Neuron . 17 (4): 587–93. doi :10.1016/S0896-6273(00)80192-0 PMID 8893017 . S2CID 9625203 . Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research . 9 (3): 99–106. CiteSeerX 10.1.1.500.923 doi :10.1093/dnares/9.3.99 . PMID 12168954 . Tuvia S, Garver TD, Bennett V (November 1997). "The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation" . Proceedings of the National Academy of Sciences of the United States of America . 94 (24): 12957–62. Bibcode :1997PNAS...9412957T . doi :10.1073/pnas.94.24.12957 PMC 24245 PMID 9371782 . Ren Q, Bennett V (May 1998). "Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules" . Journal of Neurochemistry . 70 (5): 1839–49. doi :10.1046/j.1471-4159.1998.70051839.x PMID 9572267 . Zhang X, Davis JQ, Carpenter S, Bennett V (November 1998). "Structural requirements for association of neurofascin with ankyrin" . The Journal of Biological Chemistry . 273 (46): 30785–94. doi :10.1074/jbc.273.46.30785 PMID 9804856 . Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (October 1998). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" . DNA Research . 5 (5): 277–86. doi :10.1093/dnares/5.5.277 PMID 9872452 . Koroll M, Rathjen FG, Volkmer H (April 2001). "The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity" . The Journal of Biological Chemistry . 276 (14): 10646–54. doi :10.1074/jbc.M010647200 PMID 11152476 . Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (July 2001). "Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain" . The Journal of Cell Biology . 154 (2): 427–34. doi :10.1083/jcb.200102086 . PMC 2150779 PMID 11470829 . Jenkins SM, Kizhatil K, Kramarcy NR, Sen A, Sealock R, Bennett V (November 2001). "FIGQY phosphorylation defines discrete populations of L1 cell adhesion molecules at sites of cell-cell contact and in migrating neurons" . Journal of Cell Science . 114 (Pt 21): 3823–35. doi :10.1242/jcs.114.21.3823 . PMID 11719549 . Jenkins SM, Bennett V (November 2001). "Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments" . The Journal of Cell Biology . 155 (5): 739–46. doi :10.1083/jcb.200109026 . PMC 2150881 PMID 11724816 . 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. Bibcode :2002CBio...12..217C . doi :10.1016/S0960-9822(01)00680-7 PMID 11839274 . S2CID 18017227 . Kizhatil K, Wu YX, Sen A, Bennett V (September 2002). "A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin" . The Journal of Neuroscience . 22 (18): 7948–58. doi :10.1523/jneurosci.22-18-07948.2002 . PMC 6758080 PMID 12223548 . Gollan L, Salomon D, Salzer JL, Peles E (December 2003). "Caspr regulates the processing of contactin and inhibits its binding to neurofascin" . The Journal of Cell Biology . 163 (6): 1213–8. doi :10.1083/jcb.200309147 . PMC 2173730 PMID 14676309 .
