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NFASC

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Infobox_gene}}

Neurofascin is a protein that in humans is encoded by the NFASC gene.{{cite journal | vauthors = Volkmer H, Hassel B, Wolff JM, Frank R, Rathjen FG | title = Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily | journal = The Journal of Cell Biology | volume = 118 | issue = 1 | pages = 149–61 | date = July 1992 | pmid = 1377696 | pmc = 2289533 | doi = 10.1083/jcb.118.1.149 }}{{cite journal | vauthors = Burmeister M, Ren Q, Makris GJ, Samson D, Bennett V | title = Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes | journal = Mammalian Genome | volume = 7 | issue = 7 | pages = 558–9 | date = July 1996 | pmid = 8672144 | doi = 10.1007/s003359900168 | s2cid = 29190292 }}{{cite web | title = Entrez Gene: NFASC neurofascin homolog (chicken)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23114}}

Function

Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.{{cite journal | vauthors = Ango F, di Cristo G, Higashiyama H, Bennett V, Wu P, Huang ZJ | title = Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment | journal = Cell | volume = 119 | issue = 2 | pages = 257–72 | date = October 2004 | pmid = 15479642 | doi = 10.1016/j.cell.2004.10.004 | s2cid = 16245348 | doi-access = free }}

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.{{cite journal | vauthors = 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 | title = Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia | journal = Human Molecular Genetics | volume = 27| issue = 21| date = August 2018 | pmid = 30124836 | doi = 10.1093/hmg/ddy277 | pmc=6196652 | pages=3669–3674}}

References

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Further reading

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  • {{cite journal | vauthors = Hortsch M | title = The L1 family of neural cell adhesion molecules: old proteins performing new tricks | journal = Neuron | volume = 17 | issue = 4 | pages = 587–93 | date = October 1996 | pmid = 8893017 | doi = 10.1016/S0896-6273(00)80192-0 | s2cid = 9625203 | doi-access = free }}
  • {{cite journal | vauthors = Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T | title = Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones | journal = DNA Research | volume = 9 | issue = 3 | pages = 99–106 | date = June 2002 | pmid = 12168954 | doi = 10.1093/dnares/9.3.99 | citeseerx = 10.1.1.500.923 }}
  • {{cite journal | vauthors = Tuvia S, Garver TD, Bennett V | title = The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 24 | pages = 12957–62 | date = November 1997 | pmid = 9371782 | pmc = 24245 | doi = 10.1073/pnas.94.24.12957 | bibcode = 1997PNAS...9412957T | doi-access = free }}
  • {{cite journal | vauthors = Ren Q, Bennett V | title = Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules | journal = Journal of Neurochemistry | volume = 70 | issue = 5 | pages = 1839–49 | date = May 1998 | pmid = 9572267 | doi = 10.1046/j.1471-4159.1998.70051839.x | doi-access = free }}
  • {{cite journal | vauthors = Zhang X, Davis JQ, Carpenter S, Bennett V | title = Structural requirements for association of neurofascin with ankyrin | journal = The Journal of Biological Chemistry | volume = 273 | issue = 46 | pages = 30785–94 | date = November 1998 | pmid = 9804856 | doi = 10.1074/jbc.273.46.30785 | doi-access = free }}
  • {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 5 | pages = 277–86 | date = October 1998 | pmid = 9872452 | doi = 10.1093/dnares/5.5.277 | doi-access = free }}
  • {{cite journal | vauthors = Koroll M, Rathjen FG, Volkmer H | title = The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity | journal = The Journal of Biological Chemistry | volume = 276 | issue = 14 | pages = 10646–54 | date = April 2001 | pmid = 11152476 | doi = 10.1074/jbc.M010647200 | doi-access = free}}
  • {{cite journal | vauthors = Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA | title = Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain | journal = The Journal of Cell Biology | volume = 154 | issue = 2 | pages = 427–34 | date = July 2001 | pmid = 11470829 | pmc = 2150779 | doi = 10.1083/jcb.200102086 }}
  • {{cite journal | vauthors = Jenkins SM, Kizhatil K, Kramarcy NR, Sen A, Sealock R, Bennett V | title = FIGQY phosphorylation defines discrete populations of L1 cell adhesion molecules at sites of cell-cell contact and in migrating neurons | journal = Journal of Cell Science | volume = 114 | issue = Pt 21 | pages = 3823–35 | date = November 2001 | doi = 10.1242/jcs.114.21.3823 | pmid = 11719549 | url = https://cdr.lib.unc.edu/downloads/k930c607k }}
  • {{cite journal | vauthors = Jenkins SM, Bennett V | title = Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments | journal = The Journal of Cell Biology | volume = 155 | issue = 5 | pages = 739–46 | date = November 2001 | pmid = 11724816 | pmc = 2150881 | doi = 10.1083/jcb.200109026 }}
  • {{cite journal | vauthors = Charles P, Tait S, Faivre-Sarrailh C, Barbin G, Gunn-Moore F, Denisenko-Nehrbass N, Guennoc AM, Girault JA, Brophy PJ, Lubetzki C | title = Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction | journal = Current Biology | volume = 12 | issue = 3 | pages = 217–20 | date = February 2002 | pmid = 11839274 | doi = 10.1016/S0960-9822(01)00680-7 | s2cid = 18017227 | doi-access = free | bibcode = 2002CBio...12..217C }}
  • {{cite journal | vauthors = Kizhatil K, Wu YX, Sen A, Bennett V | title = A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin | journal = The Journal of Neuroscience | volume = 22 | issue = 18 | pages = 7948–58 | date = September 2002 | pmid = 12223548 | doi = 10.1523/jneurosci.22-18-07948.2002| pmc = 6758080 }}
  • {{cite journal | vauthors = Gollan L, Salomon D, Salzer JL, Peles E | title = Caspr regulates the processing of contactin and inhibits its binding to neurofascin | journal = The Journal of Cell Biology | volume = 163 | issue = 6 | pages = 1213–8 | date = December 2003 | pmid = 14676309 | pmc = 2173730 | doi = 10.1083/jcb.200309147 }}

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{{Cell adhesion molecules}}

Category:Human proteins

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