ARL13B
Identifiers
AliasesARL13B, ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
External IDsOMIM: 608922; MGI: 1915396; HomoloGene: 18820; GeneCards: ARL13B; OMA:ARL13B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 16: 62.61 – 62.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000169379Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022911Ensembl, 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. ^ a b "Entrez Gene: ADP-ribosylation factor-like 13B".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.

Further reading

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