ARL13B

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ARL13B
Identifiers
Aliases ARL13B, ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
External IDs MGI: 1915396 HomoloGene: 18820 GeneCards: 200894
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001174150
NM_001174151
NM_144996
NM_182896
NM_001321328

NM_026577

RefSeq (protein)

NP_001167621.1
NP_001167622.1
NP_659433.2
NP_878899.1

NP_080853.3

Location (UCSC) Chr 3: 93.98 – 94.06 Mb Chr 16: 62.79 – 62.85 Mb
PubMed search [1] [2]
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.[1][2]

Function[edit]

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[edit]

Mutations in the ARL13B gene are associated with the Joubert syndrome.[2]

References[edit]

  1. ^ a b "Entrez Gene: ADP-ribosylation factor-like 13B". 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.