NFASC: Difference between revisions
Jump to navigation
Jump to search
m (→Further reading: task using AWB) |
imported>Boghog (consistent citation formatting; removed further reading citations not specific to this gene) |
||
Line 1: | Line 1: | ||
{{Infobox_gene}} | {{Infobox_gene}} | ||
'''Neurofascin''' is a [[protein]] that in humans is encoded by the ''NFASC'' [[gene]].<ref name="pmid1377696">{{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 = | '''Neurofascin''' is a [[protein]] that in humans is encoded by the ''NFASC'' [[gene]].<ref name="pmid1377696">{{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 }}</ref><ref name="pmid8672144">{{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 | pmc = | doi = 10.1007/s003359900168 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NFASC neurofascin homolog (chicken)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23114| access-date = }}</ref> | ||
== Function == | == Function == | ||
Neurofascin is an [[L1 family]] immunoglobulin [[cell adhesion molecule]] (see [[L1CAM]]) involved in [[axon]] subcellular targeting and [[synapse]] formation during [[neural development]].<ref name="entrez"/><ref name="pmid15479642">{{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 }}</ref> | Neurofascin is an [[L1 family]] immunoglobulin [[cell adhesion molecule]] (see [[L1CAM]]) involved in [[axon]] subcellular targeting and [[synapse]] formation during [[neural development]].<ref name="entrez"/><ref name="pmid15479642">{{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 }}</ref> | ||
==References== | ==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.<ref name=Smigiel2018>{{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 = | issue = | date = August 2018 | pmid = 30124836 | doi = 10.1093/hmg/ddy277 }}</ref> | |||
== References == | |||
{{reflist}} | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 }} | ||
*{{cite journal | * {{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 | * {{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 | pmid = 11719549 | doi = }} | ||
*{{cite journal | * {{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 | * {{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 }} | ||
*{{cite journal | * {{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 = }} | ||
*{{cite journal | * {{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 }} | ||
{{refend}} | {{refend}} | ||
[[Category:Human proteins]] | [[Category:Human proteins]] | ||
{{gene-1-stub}} | {{gene-1-stub}} |
Latest revision as of 08:46, 21 August 2018
VALUE_ERROR (nil) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
|
| |||||
Ensembl |
|
| |||||
UniProt |
|
| |||||
RefSeq (mRNA) |
|
| |||||
RefSeq (protein) |
|
| |||||
Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
|
Neurofascin is a protein that in humans is encoded by the NFASC gene.[1][2][3]
Function
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.[3][4]
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.[5]
References
- ↑ 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.
- ↑ 3.0 3.1 "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.
- ↑ 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. doi:10.1093/hmg/ddy277. 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.
- 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. 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. 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. 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. doi:10.1016/S0960-9822(01)00680-7. PMID 11839274.
- 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. 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.
![]() | This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |