DCTN5
| Dynactin 5 (p25) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbol | DCTN5 | ||||||||||||
| External IDs | OMIM: 612962 HomoloGene: 10998 GeneCards: DCTN5 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 84516 | 59288 | |||||||||||
| Ensembl | ENSG00000166847 | ENSMUSG00000030868 | |||||||||||
| UniProt | Q9BTE1 | Q9QZB9 | |||||||||||
| RefSeq (mRNA) | NM_001199011 | NM_021608 | |||||||||||
| RefSeq (protein) | NP_001185940 | NP_067621 | |||||||||||
| Location (UCSC) |
Chr 16: 23.64 – 23.68 Mb |
Chr 7: 122.13 – 122.15 Mb | |||||||||||
| PubMed search | |||||||||||||
Dynactin 5 (p25) is a protein that in humans is encoded by the DCTN5 gene.[1]
This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.[1]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Abnormal[2] |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Normal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of DCTN5 function. A conditional knockout mouse line, called Dctn5tm2a(KOMP)Wtsi[7][8] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[9][10][11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and abnormal lens morphology (including cataracts) was observed in female animals.[5]
References
- 1 2 "Entrez Gene: Dynactin 5 (p25)". Retrieved 2011-09-20.
- ↑ "Eye morphology data for Dctn5". Wellcome Trust Sanger Institute.
- ↑ "Salmonella infection data for Dctn5". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Dctn5". Wellcome Trust Sanger Institute.
- 1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium".
- ↑ "Mouse Genome Informatics".
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
Further reading
Eckley, D. M.; Gill, S. R.; Melkonian, K. A.; Bingham, J. B.; Goodson, H. V.; Heuser, J. E.; Schroer, T. A. (1999). "Analysis of Dynactin Subcomplexes Reveals a Novel Actin-Related Protein Associated with the Arp1 Minifilament Pointed End". The Journal of Cell Biology 147 (2): 307–320. doi:10.1083/jcb.147.2.307. PMC 2174220. PMID 10525537. Parisi, G.; Fornasari, M.; Echave, J. (2004). "Dynactins p25 and p27 are predicted to adopt the L?H fold". FEBS Letters 562 (1–3): 1–4. doi:10.1016/S0014-5793(04)00165-6. PMID 15043994. Burton, P. R.; Clayton, D. G.; Cardon, L. R.; Craddock, N.; Deloukas, P.; Duncanson, A.; Kwiatkowski, D. P.; McCarthy, M. I.; Ouwehand, W. H.; Samani, N. J.; Todd, J. A.; Donnelly, P.; Barrett, J. C.; Burton, P. R.; Davison, D.; Donnelly, P.; Easton, D.; Evans, D.; Leung, H. T.; Marchini, J. L.; Morris, A. P.; Spencer, C. C. A.; Tobin, M. D.; Cardon, L. R.; Clayton, D. G.; Attwood, A. P.; Boorman, J. P.; Cant, B.; Everson, U.; Hussey, J. M. (2007). "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature 447 (7145): 661–678. doi:10.1038/nature05911. PMC 2719288. PMID 17554300.