ARL13B

ARL13B
Identifiers
Aliases	ARL13B , ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
External IDs	OMIM: 608922; MGI: 1915396; HomoloGene: 18820; GeneCards: ARL13B; OMA:ARL13B - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q11.1-q11.2 Start 93,980,139 bp [1] End 94,055,678 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C1.3 Start 62,614,048 bp [2] End 62,667,403 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte Achilles tendon bronchial epithelial cell sural nerve testicle ventricular zone cartilage tissue tail of epididymis mucosa of paranasal sinus lower lobe of lung Top expressed in spermatid neural layer of retina hand otolith organ utricle olfactory epithelium hair follicle retinal pigment epithelium secondary oocyte zygote More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding protein binding Cellular component motile cilium axoneme cell projection membrane intracellular anatomical structure ciliary membrane plasma membrane cilium non-motile cilium Biological process smoothened signaling pathway interneuron migration from the subpallium to the cortex left/right axis specification heart looping formation of radial glial scaffolds neural tube patterning determination of left/right symmetry dorsal/ventral pattern formation response to lithium ion cilium assembly non-motile cilium assembly receptor localization to non-motile cilium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 200894 68146 Ensembl ENSG00000169379 ENSMUSG00000022911 UniProt Q3SXY8 Q640N2 RefSeq (mRNA) NM_001174150 NM_001174151 NM_144996 NM_182896 NM_001321328 NM_026577 RefSeq (protein) NP_001167621 NP_001167622 NP_001308257 NP_659433 NP_878899 NP_080853 Location (UCSC) Chr 3: 93.98 – 94.06 Mb Chr 16: 62.61 – 62.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000169379 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022911 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: ADP-ribosylation factor-like 13B".
6. 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.
7. 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.
8. 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.

External links

• Human ARL13B genome location and ARL13B gene details page in the UCSC Genome Browser .

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.