ARL13B

ARL13B
Identifiers
Aliases	ARL13B, ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
External IDs	OMIM: 608922; MGI: 1915396; GeneCards: ARL13B
Gene location (Human)
Chr.	Chromosome 3 (human)
End	94,055,678 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	62,667,403 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	200894
	68146
	ENSG00000169379
	ENSMUSG00000022911
	Q3SXY8
	Q640N2
	NM_001174150; NM_001174151; NM_144996; NM_182896; NM_001321328
	NM_026577
	NP_001167621; NP_001167622; NP_001308257; NP_659433; NP_878899
	NP_080853
	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.

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 and plays a role in cilia formation and in maintenance of cilia.

Clinical significance

Mutations in the ARL13B gene are associated with the Joubert syndrome.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000169379 – Ensembl, May 2017
1 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.

External links

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

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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000169379 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: ADP-ribosylation factor-like 13B".

[pmid18674751-6] 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.

[Primary_cilia_are_specialized_calcium_signalling_organelles,_2013-7] 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.

[Direct_recording_and_molecular_identification_of_the_calcium_channel_of_primary_cilia,_2013-8] 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.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 DNAAF1 INPP5E KIF3A SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

ARL13B

Function

Clinical significance

References

External links

Further reading