Protein-coding gene in the species Homo sapiens
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 | |
---|
|
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 | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (mRNA) | |
---|
NM_001174150 NM_001174151 NM_144996 NM_182896 NM_001321328 |
| |
---|
RefSeq (protein) | |
---|
NP_001167621 NP_001167622 NP_001308257 NP_659433 NP_878899 |
| |
---|
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
- ^ 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.
| This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it. |