From Wikipedia, the free encyclopedia
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] and plays a role in cilia formation and in maintenance of cilia.
[5]
Clinical significance
Mutations in the ARL13B gene are associated with the
Joubert syndrome .
[6]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000169379 –
Ensembl , May 2017
^
a
b
c
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 .
^
a
b
"Entrez Gene: ADP-ribosylation factor-like 13B" .
^
a
b 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 (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 .
PMC
2495072 .
PMID
18674751 .
^ 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 .
PMC
4112737 .
PMID
24336288 .
^ 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 .
PMC
4073646 .
PMID
24336289 .
External links
Further reading
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 .
PMID
18554500 .
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 .
PMC
2495072 .
PMID
18674751 .
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 .
PMC
2845074 .
PMID
20231383 .
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 .
PMID
15314642 .
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .