CHODL

CHODL
Identifiers
AliasesCHODL, C21orf68, MT75, PRED12, chondrolectin
External IDsOMIM: 607247; MGI: 2179069; GeneCards: CHODL
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

140578

246048

Ensembl

ENSG00000154645

ENSMUSG00000022860

UniProt

Q9H9P2

Q9CXM0

RefSeq (mRNA)

NM_139134
NM_001362555

RefSeq (protein)

NP_624360
NP_001349484

Location (UCSC)Chr 21: 17.9 – 18.27 MbChr 16: 78.73 – 78.75 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Chondrolectin is a protein that in humans is encoded by the CHODL gene. Mouse chondrolectin is encoded by Chodl.

Structure

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

Function

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

Clinical significance

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000154645 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022860 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 Weng L, Smits P, Wauters J, Merregaert J (June 2002). "Molecular cloning and characterization of human chondrolectin, a novel type I transmembrane protein homologous to C-type lectins". Genomics. 80 (1): 62–70. doi:10.1006/geno.2002.6806. PMID 12079284.
  6. ↑ "Entrez Gene: CHODL chondrolectin".
  7. 1 2 Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, et al. (April 2003). "Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells". Gene. 308: 21–29. doi:10.1016/s0378-1119(03)00425-6. PMID 12711387.
  8. ↑ Zelensky AN, Gready JE (December 2005). "The C-type lectin-like domain superfamily". The FEBS Journal. 272 (24): 6179–6217. doi:10.1111/j.1742-4658.2005.05031.x. PMID 16336259. S2CID 7084402.
  9. ↑ Claessens A, Van de Vijver K, Van Bockstaele DR, Wauters J, Berneman ZN, Van Marck E, et al. (November 2007). "Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin". Cell Biology International. 31 (11): 1323–1330. doi:10.1016/j.cellbi.2007.05.014. PMID 17606388. S2CID 86132649.
  10. 1 2 Enjin A, Rabe N, Nakanishi ST, Vallstedt A, Gezelius H, Memic F, et al. (June 2010). "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells". The Journal of Comparative Neurology. 518 (12): 2284–2304. doi:10.1002/cne.22332. PMID 20437528. S2CID 23009923.
  11. ↑ Zhong Z, Ohnmacht J, Reimer MM, Bach I, Becker T, Becker CG (March 2012). "Chondrolectin mediates growth cone interactions of motor axons with an intermediate target". The Journal of Neuroscience. 32 (13): 4426–4439. doi:10.1523/JNEUROSCI.5179-11.2012. PMC 6622066. PMID 22457492.
  12. 1 2 Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, et al. (December 2009). "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLoS Genetics. 5 (12) e1000773. doi:10.1371/journal.pgen.1000773. PMC 2787017. PMID 20019802.
  13. ↑ Sleigh JN, Gillingwater TH, Talbot K (August 2011). "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy". Disease Models & Mechanisms. 4 (4): 457–467. doi:10.1242/dmm.007245. PMC 3124050. PMID 21708901.
  14. ↑ Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, et al. (September 2013). "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Human Molecular Genetics. 23 (4): 855–869. doi:10.1093/hmg/ddt477. PMID 24067532.

Further reading