ARL13B
| ADP-ribosylation factor-like 13B | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ARL13B ; ARL2L1; JBTS8 | ||||||||||||
| External IDs | OMIM: 608922 MGI: 1915396 HomoloGene: 18820 GeneCards: ARL13B Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 200894 | 68146 | |||||||||||
| Ensembl | ENSG00000169379 | ENSMUSG00000022911 | |||||||||||
| UniProt | Q3SXY8 | Q640N2 | |||||||||||
| RefSeq (mRNA) | NM_001174150 | NM_026577 | |||||||||||
| RefSeq (protein) | NP_001167621 | NP_080853 | |||||||||||
| Location (UCSC) |
Chr 3: 93.98 – 94.06 Mb |
Chr 16: 62.79 – 62.85 Mb | |||||||||||
| PubMed search | |||||||||||||
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.[1][2]
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[3] [4] and plays a role in cilia formation and in maintenance of cilia.[1]
Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome.[2]
References
- 1 2 "Entrez Gene: ADP-ribosylation factor-like 13B".
- 1 2 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. doi:10.1038/nature12833. 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. doi:10.1038/nature12832. PMID 24336289.
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.
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