MYO5A

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MYO5A
Protein MYO5A PDB 1oe9.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MYO5A, GS1, MYH12, MYO5, MYR12, myosin VA
External IDs OMIM: 160777 MGI: 105976 HomoloGene: 20100 GeneCards: MYO5A
RNA expression pattern
PBB GE MYO5A 204527 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000259
NM_001142495

NM_010864

RefSeq (protein)

NP_000250
NP_001135967

NP_034994.2
NP_034994

Location (UCSC) Chr 15: 52.31 – 52.53 Mb Chr 9: 75.07 – 75.22 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myosin-Va is a protein that in humans is encoded by the MYO5A gene.[3][4][5]

Interactions[edit]

MYO5A has been shown to interact with DYNLL1,[6] RAB27A[7][8] and DYNLL2.[6][9] and RPGRIP1L [10]

Clinical significance[edit]

Defects are associated with Griscelli syndrome type 1, also known as Elejalde syndrome.

Model organisms[edit]

Model organisms have been used in the study of MYO5A function. A conditional knockout mouse line, called Myo5atm1e(KOMP)Wtsi[16][17] 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.[18][19][20]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[14] Male homozygous mutants had abnormal hair cycles, coat colouration and an increased susceptibility to bacterial infection.[14]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Engle LJ, Kennett RH (Feb 1994). "Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene". Genomics. 19 (3): 407–16. doi:10.1006/geno.1994.1088. PMID 8188282. 
  4. ^ Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS (Jul 1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types". Proceedings of the National Academy of Sciences of the United States of America. 91 (14): 6549–53. doi:10.1073/pnas.91.14.6549. PMC 44240Freely accessible. PMID 8022818. 
  5. ^ "Entrez Gene: MYO5A myosin VA (heavy chain 12, myoxin)". 
  6. ^ a b Naisbitt S, Valtschanoff J, Allison DW, Sala C, Kim E, Craig AM, Weinberg RJ, Sheng M (Jun 2000). "Interaction of the postsynaptic density-95/guanylate kinase domain-associated protein complex with a light chain of myosin-V and dynein". The Journal of Neuroscience. 20 (12): 4524–34. PMID 10844022. 
  7. ^ Wu X, Wang F, Rao K, Sellers JR, Hammer JA (May 2002). "Rab27a is an essential component of melanosome receptor for myosin Va". Molecular Biology of the Cell. 13 (5): 1735–49. doi:10.1091/mbc.01-12-0595. PMC 111140Freely accessible. PMID 12006666. 
  8. ^ Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T (Apr 2002). "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions". FEBS Letters. 517 (1-3): 233–8. doi:10.1016/S0014-5793(02)02634-0. PMID 12062444. 
  9. ^ Puthalakath H, Villunger A, O'Reilly LA, Beaumont JG, Coultas L, Cheney RE, Huang DC, Strasser A (Sep 2001). "Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis". Science. 293 (5536): 1829–32. doi:10.1126/science.1062257. PMID 11546872. 
  10. ^ Assis, L. H. P. et al. The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. Sci. Rep. 7, 43692; doi: 10.1038/srep43692 (2017)
  11. ^ "Dysmorphology data for Myo5a". Wellcome Trust Sanger Institute. 
  12. ^ "Salmonella infection data for Myo5a". Wellcome Trust Sanger Institute. 
  13. ^ "Citrobacter infection data for Myo5a". Wellcome Trust Sanger Institute. 
  14. ^ 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. 
  15. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  16. ^ "International Knockout Mouse Consortium". 
  17. ^ "Mouse Genome Informatics". 
  18. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  19. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  20. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  21. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 

Further reading[edit]