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ARL13B

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Infobox_gene}}

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.{{cite web | title = Entrez Gene: ADP-ribosylation factor-like 13B | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=200894 }}{{cite journal | vauthors = Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG | title = Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | journal = American Journal of Human Genetics | volume = 83 | issue = 2 | pages = 170–179 | date = August 2008 | pmid = 18674751 | pmc = 2495072 | doi = 10.1016/j.ajhg.2008.06.023 }}

Function

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia{{Cite journal | vauthors = Delling M, Decaen PG, Doerner JF, Febvay S, Clapham DE | title = Primary cilia are specialized calcium signalling organelles | journal = Nature | volume = 504 | issue = 7479 | pages = 311–314 | year = 2013 | pmid = 24336288 | pmc = 4112737 | doi = 10.1038/nature12833 | bibcode = 2013Natur.504..311D }}{{Cite journal | vauthors = Decaen PG, Delling M, Vien TN, Clapham DE | title = Direct recording and molecular identification of the calcium channel of primary cilia | journal = Nature | volume = 504 | issue = 7479 | pages = 315–318 | year = 2013 | pmid = 24336289 | pmc = 4073646 | doi = 10.1038/nature12832 | bibcode = 2013Natur.504..315D }} and plays a role in cilia formation and in maintenance of cilia.

Clinical significance

Mutations in the ARL13B gene are associated with the Joubert syndrome.

References

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External links

  • {{UCSC gene info|ARL13B}}

Further reading

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  • {{cite journal | vauthors = Hori Y, Kobayashi T, Kikko Y, Kontani K, Katada T | title = Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. | journal = Biochemical and Biophysical Research Communications | volume = 373 | issue = 1 | pages = 119–124 | year = 2008 | pmid = 18554500 | doi = 10.1016/j.bbrc.2008.06.001 }}
  • {{cite journal | vauthors = Cantagrel V, Silhavy J, Bielas S, Swistun D, Marsh S, Bertrand J, Audollent S, Attie-Bitach T, Holden K, Dobyns W, Traver D, Al-Gazali L, Ali B, Lindner T, Caspary T, Otto E, Hildebrandt F, Glass I, Logan C, Johnson C, Bennett C, Brancati F, Valente E, Woods C, Gleeson J | title = Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. | journal = American Journal of Human Genetics | volume = 83 | issue = 2 | pages = 170–179 | year = 2008 | pmid = 18674751 | pmc = 2495072 | doi = 10.1016/j.ajhg.2008.06.023 }}
  • {{cite journal | vauthors = Cevik S, Hori Y, Kaplan O, Kida K, Toivenon T, Foley-Fisher C, Cottell D, Katada T, Kontani K, Blacque O | title = Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. | journal = The Journal of Cell Biology | volume = 188 | issue = 6 | pages = 953–969 | year = 2010 | pmid = 20231383 | pmc = 2845074 | doi = 10.1083/jcb.200908133 }}
  • {{cite journal | vauthors = Fan Y, Esmail M, Ansley S, Blacque O, Boroevich K, Ross A, Moore S, Badano J, May-Simera H, Compton D, Green J, Lewis R, van HM, Parfrey P, Baillie D, Beales P, Katsanis N, Davidson W, Leroux M | title = Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. | journal = Nature Genetics | volume = 36 | issue = 9 | pages = 989–993 | year = 2004 | pmid = 15314642 | doi = 10.1038/ng1414 | doi-access = free }}

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{{NLM content}}

{{Ciliary proteins}}

{{Gene-3-stub}}