ARL13B Protein-coding gene in the species Homo sapiens
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 .[ 5] [ 6]
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 [ 7] [ 8] [ 5]
Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome .[ 6]
References
1 2 3 GRCh38: Ensembl release 89: ENSG00000169379 – Ensembl , May 20171 2 3 GRCm38: 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 .1 2 "Entrez Gene: ADP-ribosylation factor-like 13B" .1 2 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, et al. (August 2008). "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome" . American Journal of Human Genetics . 83 (2): 170– 179. doi :10.1016/j.ajhg.2008.06.023 . PMC 2495072 PMID 18674751 . ↑ Delling M, Decaen PG, Doerner JF, Febvay S, Clapham DE (2013). "Primary cilia are specialized calcium signalling organelles" . Nature . 504 (7479): 311– 314. Bibcode :2013Natur.504..311D . doi :10.1038/nature12833 . PMC 4112737 PMID 24336288 . ↑ Decaen PG, Delling M, Vien TN, Clapham DE (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 . PMC 4073646 PMID 24336289 .
Further reading
Hori Y, Kobayashi T, Kikko Y, Kontani K, Katada T (2008). "Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation". Biochemical and Biophysical Research Communications . 373 (1): 119– 124. doi :10.1016/j.bbrc.2008.06.001 . PMID 18554500 . Cantagrel V, Silhavy J, Bielas S, Swistun D, Marsh S, Bertrand J, et al. (2008). "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome" . American Journal of Human Genetics . 83 (2): 170– 179. doi :10.1016/j.ajhg.2008.06.023 . PMC 2495072 PMID 18674751 . Cevik S, Hori Y, Kaplan O, Kida K, Toivenon T, Foley-Fisher C, et al. (2010). "Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans" . The Journal of Cell Biology . 188 (6): 953– 969. doi :10.1083/jcb.200908133 . PMC 2845074 PMID 20231383 . Fan Y, Esmail M, Ansley S, Blacque O, Boroevich K, Ross A, et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome" . Nature Genetics . 36 (9): 989– 993. doi :10.1038/ng1414 PMID 15314642 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
