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词条 CHODL
释义

  1. Structure

  2. Function

  3. Clinical significance

  4. References

  5. External links

  6. Further reading

{{Infobox_gene}}Chondrolectin is a protein that in humans is encoded by the CHODL gene.[1][2] Mouse chondrolectin is encoded by Chodl.[3]

Structure

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[1][3] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[4] This protein has been shown to localise to the perinucleus.[1][5][6]

Function

The exact function of chondrolectin is unknown but it has been show to be a marker of fast motor neurons in mice,[6] and is involved in motor neuron development and growth in zebrafish (danio rerio).[7] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[8]

Clinical significance

Chondrolectin is alternatively spliced in the spinal cord of mouse models[9] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[8] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[10]

References

1. ^1 2 {{cite journal |vauthors=Weng L, Smits P, Wauters J, Merregaert J | title = Molecular cloning and characterization of human chondrolectin, a novel type I transmembrane protein homologous to C-type lectins | journal = Genomics | volume = 80 | issue = 1 | pages = 62–70 |date=Jun 2002 | pmid = 12079284 | pmc = | doi =10.1006/geno.2002.6806 }}
2. ^{{cite web | title = Entrez Gene: CHODL chondrolectin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=140578| accessdate = }}
3. ^1 {{cite journal |vauthors=Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, Van Marck E, Merregaert J | title = Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells | journal = Gene | volume = 308 | pages = 21–29 |date=Apr 2003 | pmid = 12711387 | doi=10.1016/s0378-1119(03)00425-6}}
4. ^{{cite journal |vauthors=Zelensky AN, Gready JE | title = The C-type lectin-like domain superfamily | journal = FEBS J | volume = 272 | issue = 24 | pages = 6179–6217 |date=Dec 2005 | pmid = 16336259 | pmc = | doi =10.1111/j.1742-4658.2005.05031.x }}
5. ^{{cite journal |vauthors=Claessens A, Van de Vijver K, Van Bockstaele DR, Wauters J, Berneman ZN, Van Marck E, Merregaert J | title = Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin | journal = Cell Biol Int | volume = 31 | issue = 11 | pages = 1323–1330 |date=Nov 2007 | pmid = 17606388 | pmc = | doi =10.1016/j.cellbi.2007.05.014 }}
6. ^1 {{cite journal |vauthors=Enjin A, Rabe N, Nakanishi ST, Vallstedt A, Gezelius H, Memic F, Lind M, Hjalt T, Tourtellotte WG, Bruder C, Eichele G, Whelan PJ, Kullander K | title = Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells. | journal = J Comp Neurol | volume = 518 | issue = 12 | pages = 2284–2304 |date=Jun 2010 | pmid = 20437528 | pmc = | doi =10.1002/cne.22332 }}
7. ^{{Cite journal | last1 = Zhong | first1 = Z. | last2 = Ohnmacht | first2 = J. | last3 = Reimer | first3 = M. M. | last4 = Bach | first4 = I. | last5 = Becker | first5 = T. | last6 = Becker | first6 = C. G. | doi = 10.1523/JNEUROSCI.5179-11.2012 | title = Chondrolectin Mediates Growth Cone Interactions of Motor Axons with an Intermediate Target | journal = Journal of Neuroscience | volume = 32 | issue = 13 | pages = 4426–4439 | year = 2012 | pmid = 22457492| pmc = }}
8. ^1 {{cite journal |vauthors=Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K | title = Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy | journal = PLoS Genet | volume = 5 | issue = 12 | pages = e1000773 |date=Dec 2009 | pmid = 20019802 | pmc = 2787017| doi =10.1371/journal.pgen.1000773 }}
9. ^{{cite journal |vauthors=Sleigh JN, Gillingwater TH, Talbot K | title = The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy | journal = Dis Model Mech | volume = 4 | issue = 4 | pages = 457–467 |date=Aug 2011 | pmid = 21708901 | pmc = 3124050| doi =10.1242/dmm.007245 }}
10. ^{{cite journal |vauthors=Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, Becker CG, Talbot K | title = Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy | journal = Hum Mol Genet |date=Sep 2013 | pmid = 24067532 | pmc = | doi =10.1093/hmg/ddt477 | volume=23 | issue=4 | pages=855–69}}

External links

  • {{UCSC gene info|CHODL}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal |vauthors=Clark HF, Gurney AL, Abaya E |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |display-authors=etal}}
  • {{cite journal |vauthors=Weng L, Van Bockstaele DR, Wauters J |title=A novel alternative spliced chondrolectin isoform lacking the transmembrane domain is expressed during T cell maturation. |journal=J. Biol. Chem. |volume=278 |issue= 21 |pages= 19164–70 |year= 2003 |pmid= 12621022 |doi= 10.1074/jbc.M300653200 |display-authors=etal}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal |vauthors=Reymond A, Friedli M, Henrichsen CN |title=From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. |journal=Genomics |volume=78 |issue= 1–2 |pages= 46–54 |year= 2002 |pmid= 11707072 |doi= 10.1006/geno.2001.6640 |display-authors=etal}}
  • {{cite journal |vauthors=Hattori M, Fujiyama A, Taylor TD |title=The DNA sequence of human chromosome 21. |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518 |display-authors=etal}}
{{refend}}{{gene-21-stub}}
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