View source for MYO5A

{{Infobox_gene}}
'''Myosin-Va''' is a [[protein]] that in humans is encoded by the ''MYO5A'' [[gene]].<ref name="pmid8188282">{{cite journal | vauthors = Engle LJ, Kennett RH | title = Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene | journal = Genomics | volume = 19 | issue = 3 | pages = 407–16 | date = Feb 1994 | pmid = 8188282 | pmc =  | doi = 10.1006/geno.1994.1088 }}</ref><ref name="pmid8022818">{{cite journal | vauthors = Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS | title = Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 14 | pages = 6549–53 | date = Jul 1994 | pmid = 8022818 | pmc = 44240 | doi = 10.1073/pnas.91.14.6549 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MYO5A myosin VA (heavy chain 12, myoxin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4644| accessdate = }}</ref>

== Interactions ==

MYO5A has been shown to [[Protein-protein interaction|interact]] with [[DYNLL1]],<ref name=pmid10844022>{{cite journal | vauthors = Naisbitt S, Valtschanoff J, Allison DW, Sala C, Kim E, Craig AM, Weinberg RJ, Sheng M | title = Interaction of the postsynaptic density-95/guanylate kinase domain-associated protein complex with a light chain of myosin-V and dynein | journal = The Journal of Neuroscience | volume = 20 | issue = 12 | pages = 4524–34 | date = Jun 2000 | pmid = 10844022 }}</ref> [[RAB27A]],<ref name=pmid12006666>{{cite journal | vauthors = Wu X, Wang F, Rao K, Sellers JR, Hammer JA | title = Rab27a is an essential component of melanosome receptor for myosin Va | journal = Molecular Biology of the Cell | volume = 13 | issue = 5 | pages = 1735–49 | date = May 2002 | pmid = 12006666 | pmc = 111140 | doi = 10.1091/mbc.01-12-0595 }}</ref><ref name=pmid12062444>{{cite journal | vauthors = Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T | title = Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions | journal = FEBS Letters | volume = 517 | issue = 1-3 | pages = 233–8 | date = Apr 2002 | pmid = 12062444 | doi = 10.1016/S0014-5793(02)02634-0 }}</ref> [[DYNLL2]]<ref name=pmid10844022/><ref name=pmid11546872>{{cite journal | vauthors = Puthalakath H, Villunger A, O'Reilly LA, Beaumont JG, Coultas L, Cheney RE, Huang DC, Strasser A | title = Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis | journal = Science | volume = 293 | issue = 5536 | pages = 1829–32 | date = Sep 2001 | pmid = 11546872 | doi = 10.1126/science.1062257 }}</ref> and RPGRIP1L.<ref> 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)</ref>

==Clinical significance==
Defects are associated with [[Griscelli syndrome]] type 1, also known as [[Elejalde syndrome]].

==Model organisms==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Myo5a'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| [[Homozygote]] viability || bgcolor="#488ED3"|Normal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#C40000"|Abnormal<ref name="Dysmorphology">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBRR/dysmorphology/ |title=Dysmorphology data for Myo5a |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Blood plasma|Plasma]] [[immunoglobulin]]s || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Tail epidermis wholemount || bgcolor="#C40000"|Abnormal
|-
| Skin Histopathology || bgcolor="#488ED3"|Normal
|-
| Brain histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#C40000"|Abnormal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBRR/salmonella-challenge/ |title=''Salmonella'' infection data for Myo5a |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBRR/citrobacter-challenge/ |title=''Citrobacter'' infection data for Myo5a |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages =  925–7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of MYO5A function. A conditional [[knockout mouse]] line, called ''Myo5a<sup>tm1e(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Myo5a |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363512 |title=Mouse Genome Informatics}}</ref> 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.<ref name="pmid21677750">{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>

Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}</ref> Twenty five tests were carried out on [[mutant]] mice and three significant abnormalities were observed.<ref name="mgp_reference" /> Male [[homozygous]] mutants had abnormal hair cycles, coat colouration and an increased susceptibility to [[bacterial infection]].<ref name="mgp_reference" />

== See also ==
* [[Myosin]]

== References ==
{{reflist}}

== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Moore KJ, Testa JR, Francke U, Milatovich A, Copeland NG, Jenkins NA | title = Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21 | journal = Cytogenetics and Cell Genetics | volume = 69 | issue = 1-2 | pages = 53–8 | year = 1995 | pmid = 7835087 | doi = 10.1159/000133937 }}
* {{cite journal | vauthors = Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G | title = Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene | journal = Nature Genetics | volume = 16 | issue = 3 | pages = 289–92 | date = Jul 1997 | pmid = 9207796 | doi = 10.1038/ng0797-289 }}
* {{cite journal | vauthors = Lambert J, Naeyaert JM, Callens T, De Paepe A, Messiaen L | title = Human myosin V gene produces different transcripts in a cell type-specific manner | journal = Biochemical and Biophysical Research Communications | volume = 252 | issue = 2 | pages = 329–33 | date = Nov 1998 | pmid = 9826529 | doi = 10.1006/bbrc.1998.9644 }}
* {{cite journal | vauthors = Buss F, Kendrick-Jones J, Lionne C, Knight AE, Côté GP, Paul Luzio J | title = The localization of myosin VI at the golgi complex and leading edge of fibroblasts and its phosphorylation and recruitment into membrane ruffles of A431 cells after growth factor stimulation | journal = The Journal of Cell Biology | volume = 143 | issue = 6 | pages = 1535–45 | date = Dec 1998 | pmid = 9852149 | pmc = 2132970 | doi = 10.1083/jcb.143.6.1535 }}
* {{cite journal | vauthors = El-Husseini AE, Vincent SR | title = Cloning and characterization of a novel RING finger protein that interacts with class V myosins | journal = The Journal of Biological Chemistry | volume = 274 | issue = 28 | pages = 19771–7 | date = Jul 1999 | pmid = 10391919 | doi = 10.1074/jbc.274.28.19771 }}
* {{cite journal | vauthors = Mehta AD, Rock RS, Rief M, Spudich JA, Mooseker MS, Cheney RE | title = Myosin-V is a processive actin-based motor | journal = Nature | volume = 400 | issue = 6744 | pages = 590–3 | date = Aug 1999 | pmid = 10448864 | doi = 10.1038/23072 }}
* {{cite journal | vauthors = Edgar AJ, Bennett JP | title = Inhibition of dendrite formation in mouse melanocytes transiently transfected with antisense DNA to myosin Va | journal = Journal of Anatomy | volume = 195 | issue = 2 | pages = 173–84 | date = Aug 1999 | pmid = 10529054 | pmc = 1467982 | doi = 10.1046/j.1469-7580.1999.19520173.x }}
* {{cite journal | vauthors = Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, Tezcan I, Gediköglu G, Philippe N, Fischer A, de Saint Basile G | title = Two genes are responsible for Griscelli syndrome at the same 15q21 locus | journal = Genomics | volume = 63 | issue = 3 | pages = 299–306 | date = Feb 2000 | pmid = 10704277 | doi = 10.1006/geno.1999.6081 }}
* {{cite journal | vauthors = Lambert J, Naeyaert JM, De Paepe A, Van Coster R, Ferster A, Song M, Messiaen L | title = arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome | journal = The Journal of Investigative Dermatology | volume = 114 | issue = 4 | pages = 731–3 | date = Apr 2000 | pmid = 10733681 | doi = 10.1046/j.1523-1747.2000.00933.x }}
* {{cite journal | vauthors = Naisbitt S, Valtschanoff J, Allison DW, Sala C, Kim E, Craig AM, Weinberg RJ, Sheng M | title = Interaction of the postsynaptic density-95/guanylate kinase domain-associated protein complex with a light chain of myosin-V and dynein | journal = The Journal of Neuroscience | volume = 20 | issue = 12 | pages = 4524–34 | date = Jun 2000 | pmid = 10844022 | doi =  }}
* {{cite journal | vauthors = Lo KW, Naisbitt S, Fan JS, Sheng M, Zhang M | title = The 8-kDa dynein light chain binds to its targets via a conserved (K/R)XTQT motif | journal = The Journal of Biological Chemistry | volume = 276 | issue = 17 | pages = 14059–66 | date = Apr 2001 | pmid = 11148209 | doi = 10.1074/jbc.M010320200 }}
* {{cite journal | vauthors = Ohkawa N, Kokura K, Matsu-Ura T, Obinata T, Konishi Y, Tamura TA | title = Molecular cloning and characterization of neural activity-related RING finger protein (NARF): a new member of the RBCC family is a candidate for the partner of myosin V | journal = Journal of Neurochemistry | volume = 78 | issue = 1 | pages = 75–87 | date = Jul 2001 | pmid = 11432975 | doi = 10.1046/j.1471-4159.2001.00373.x }}
* {{cite journal | vauthors = Fukuda M, Kuroda TS, Mikoshiba K | title = Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport | journal = The Journal of Biological Chemistry | volume = 277 | issue = 14 | pages = 12432–6 | date = Apr 2002 | pmid = 11856727 | doi = 10.1074/jbc.C200005200 }}
* {{cite journal | vauthors = Rodriguez OC, Cheney RE | title = Human myosin-Vc is a novel class V myosin expressed in epithelial cells | journal = Journal of Cell Science | volume = 115 | issue = Pt 5 | pages = 991–1004 | date = Mar 2002 | pmid = 11870218 | doi =  }}
* {{cite journal | vauthors = Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC | title = A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport | journal = The Journal of Biological Chemistry | volume = 277 | issue = 28 | pages = 25423–30 | date = Jul 2002 | pmid = 11980908 | doi = 10.1074/jbc.M202574200 }}
* {{cite journal | vauthors = Wu X, Wang F, Rao K, Sellers JR, Hammer JA | title = Rab27a is an essential component of melanosome receptor for myosin Va | journal = Molecular Biology of the Cell | volume = 13 | issue = 5 | pages = 1735–49 | date = May 2002 | pmid = 12006666 | pmc = 111140 | doi = 10.1091/mbc.01-12-0595 }}
* {{cite journal | vauthors = Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H | title = Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A | journal = American Journal of Human Genetics | volume = 71 | issue = 2 | pages = 407–14 | date = Aug 2002 | pmid = 12058346 | pmc = 379173 | doi = 10.1086/341606 }}
* {{cite journal | vauthors = Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T | title = Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions | journal = FEBS Letters | volume = 517 | issue = 1-3 | pages = 233–8 | date = Apr 2002 | pmid = 12062444 | doi = 10.1016/S0014-5793(02)02634-0 }}
{{refend}}

{{PDB Gallery|geneid=4644}}
{{Cytoskeletal proteins}}

[[Category:Genes mutated in mice]]