ARL13B
ADP-ribosylation factor-like protein 13B(ARL13B), also known asADP-ribosylation factor-like protein 2-like 1,is aproteinthat in humans is encoded by theARL13Bgene.[5][6]
Function
[edit]This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a smallGTPasethat contains bothN-terminalandC-terminalguanine nucleotide-binding motifs. This protein is localized in thecilia[7][8]and plays a role in cilia formation and in maintenance of cilia.[5]
Clinical significance
[edit]Mutations in theARL13Bgene are associated with theJoubert syndrome.[6]
References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000169379–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000022911–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ab"Entrez Gene: ADP-ribosylation factor-like 13B".
- ^abCantagrel 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 (August 2008)."Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome".Am. J. Hum. Genet.83(2): 170–9.doi:10.1016/j.ajhg.2008.06.023.PMC2495072.PMID18674751.
- ^Delling, M.; Decaen, P. G.; Doerner, J. F.; Febvay, S.; Clapham, D. E. (2013)."Primary cilia are specialized calcium signalling organelles".Nature.504(7479): 311–314.Bibcode:2013Natur.504..311D.doi:10.1038/nature12833.PMC4112737.PMID24336288.
- ^Decaen, P. G.; Delling, M.; Vien, T. N.; Clapham, D. E. (2013)."Direct recording and molecular identification of the calcium channel of primary cilia".Nature.504(7479): 315–318.Bibcode:2013Natur.504..315D.doi:10.1038/nature12832.PMC4073646.PMID24336289.
External links
[edit]- HumanARL13Bgenome location andARL13Bgene details page in theUCSC Genome Browser.
Further reading
[edit]- Hori Y, Kobayashi T, Kikko Y, et al. (2008). "Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation".Biochem. Biophys. Res. Commun.373(1): 119–24.doi:10.1016/j.bbrc.2008.06.001.PMID18554500.
- Cantagrel V, Silhavy JL, Bielas SL, et al. (2008)."Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome".Am. J. Hum. Genet.83(2): 170–9.doi:10.1016/j.ajhg.2008.06.023.PMC2495072.PMID18674751.
- Cevik S, Hori Y, Kaplan OI, et al. (2010)."Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans".J. Cell Biol.188(6): 953–69.doi:10.1083/jcb.200908133.PMC2845074.PMID20231383.
- Fan Y, Esmail MA, Ansley SJ, et al. (2004)."Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome".Nat. Genet.36(9): 989–93.doi:10.1038/ng1414.PMID15314642.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.
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