From Wikipedia, the free encyclopedia
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 .