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DCTN5

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DCTN5
Identifiers
AliasesDCTN5, dynactin subunit 5
External IDsOMIM: 612962; MGI: 1891689; HomoloGene: 10998; GeneCards: DCTN5; OMA:DCTN5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

84516

59288

Ensembl

ENSG00000166847

ENSMUSG00000030868

UniProt

Q9BTE1

Q9QZB9

RefSeq (mRNA)

NM_001199011
NM_001199743
NM_032486

NM_021608

RefSeq (protein)

NP_001185940
NP_001186672
NP_115875

NP_067621

Location (UCSC)Chr 16: 23.64 – 23.68 MbChr 7: 121.73 – 121.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dynactin 5 (p25) is a protein that in humans is encoded by the DCTN5 gene.[5]

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.[5]

Model organisms

Model organisms have been used in the study of DCTN5 function. A conditional knockout mouse line, called Dctn5tm2a(KOMP)Wtsi[11][12] 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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[9] 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.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166847 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030868 – 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. ^ a b "Entrez Gene: Dynactin 5 (p25)". Retrieved 2011-09-20.
  6. ^ "Eye morphology data for Dctn5". Wellcome Trust Sanger Institute.
  7. ^ "Salmonella infection data for Dctn5". Wellcome Trust Sanger Institute.
  8. ^ "Citrobacter infection data for Dctn5". Wellcome Trust Sanger Institute.
  9. ^ a b c d 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.
  10. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ^ "International Knockout Mouse Consortium".
  12. ^ "Mouse Genome Informatics".
  13. ^ 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.
  14. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. ^ 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.
  16. ^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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.


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