CHODL

CHODL
Identifiers
Aliases	CHODL , C21orf68, MT75, PRED12, chondrolectin
External IDs	OMIM: 607247 MGI: 2179069 HomoloGene: 11795 GeneCards: CHODL
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q21.1 Start 17,901,263 bp [1] End 18,267,373 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C3.1 Start 78,727,836 bp [2] End 78,748,621 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon spleen hypothalamus rectum inferior olivary nucleus ganglionic eminence gastric mucosa ascending aorta right coronary artery endometrium Top expressed in facial motor nucleus vas deferens motor neuron body of femur anterior horn of spinal cord superior cervical ganglion soleus muscle intercostal muscle ankle internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hyaluronic acid binding carbohydrate binding Cellular component cytoplasm perinuclear region of cytoplasm integral component of membrane membrane endoplasmic reticulum endoplasmic reticulum membrane Biological process muscle organ development regulation of neuron projection development nervous system development positive regulation of axonogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 140578 246048 Ensembl ENSG00000154645 ENSMUSG00000022860 UniProt Q9H9P2 Q9CXM0 RefSeq (mRNA) NM_001204174 NM_001204175 NM_001204176 NM_001204177 NM_001204178 NM_024944 NM_139134 NM_001362555 RefSeq (protein) NP_001191103 NP_001191104 NP_001191105 NP_001191106 NP_001191107 NP_079220 NP_624360 NP_001349484 Location (UCSC) Chr 21: 17.9 – 18.27 Mb Chr 16: 78.73 – 78.75 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chondrolectin is a protein that in humans is encoded by the CHODL gene. ^{[5] [6]} Mouse chondrolectin is encoded by Chodl. ^[7]

Structure

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. ^{[5] [7]} In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. ^[8] This protein has been shown to localise to the perinucleus. ^{[5] [9] [10]}

Function

The exact function of chondrolectin is unknown but it has been shown to be a marker of fast motor neurons in mice, ^[10] and is involved in motor neuron development and growth in zebrafish (Danio rerio). ^[11] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord. ^[12]

Clinical significance

Chondrolectin is alternatively spliced in the spinal cord of mouse models ^[13] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons. ^[12] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects. ^[14]

References

1. GRCh38: Ensembl release 89: ENSG00000154645 - Ensembl, May 2017
2. 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. Weng L, Smits P, Wauters J, Merregaert J (Jun 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. Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, Van Marck E, Merregaert J (Apr 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 (Dec 2005). "The C-type lectin-like domain superfamily". FEBS J. 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, Merregaert J (Nov 2007). "Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin". Cell Biol Int. 31 (11): 1323–1330. doi:10.1016/j.cellbi.2007.05.014. PMID   17606388. S2CID   86132649.
10. 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 (Jun 2010). "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells". J Comp Neurol. 518 (12): 2284–2304. doi:10.1002/cne.22332. PMID   20437528. S2CID   23009923.
11. Zhong, Z.; Ohnmacht, J.; Reimer, M. M.; Bach, I.; Becker, T.; Becker, C. G. (2012). "Chondrolectin Mediates Growth Cone Interactions of Motor Axons with an Intermediate Target". Journal of Neuroscience. 32 (13): 4426–4439. doi:10.1523/JNEUROSCI.5179-11.2012. PMC   6622066 . PMID   22457492.
12. Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K (Dec 2009). "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLOS Genet. 5 (12): e1000773. doi:10.1371/journal.pgen.1000773. PMC   2787017 . PMID   20019802.
13. Sleigh JN, Gillingwater TH, Talbot K (Aug 2011). "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy". Dis. Models Mech. 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, Becker CG, Talbot K (Sep 2013). "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Hum Mol Genet. 23 (4): 855–69. doi: 10.1093/hmg/ddt477 . PMID   24067532.

External links

• Human CHODL genome location and CHODL gene details page in the UCSC Genome Browser .

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Weng L, Van Bockstaele DR, Wauters J, et al. (2003). "A novel alternative spliced chondrolectin isoform lacking the transmembrane domain is expressed during T cell maturation". J. Biol. Chem. 278 (21): 19164–70. doi: 10.1074/jbc.M300653200 . PMID   12621022.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Reymond A, Friedli M, Henrichsen CN, et al. (2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. 78 (1–2): 46–54. doi:10.1006/geno.2001.6640. PMID   11707072.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi: 10.1038/35012518 . PMID   10830953.