ARL13B

Protein-coding gene in the species Homo sapiens
ARL13B
Identifiers
AliasesARL13B, ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
External IDsOMIM: 608922 MGI: 1915396 HomoloGene: 18820 GeneCards: ARL13B
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ARL13B
Genomic location for ARL13B
Band3q11.1-q11.2Start93,980,139 bp[1]
End94,055,678 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for ARL13B
Genomic location for ARL13B
Band16|16 C1.3Start62,614,048 bp[2]
End62,667,403 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • Achilles tendon

  • bronchial epithelial cell

  • sural nerve

  • lower lobe of lung

  • caput epididymis

  • ganglionic eminence

  • smooth muscle tissue

  • islet of Langerhans

  • gallbladder
Top expressed in
  • spermatid

  • hand

  • otolith organ

  • utricle

  • olfactory epithelium

  • hair follicle

  • retinal pigment epithelium

  • secondary oocyte

  • spermatocyte

  • foot
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
SpeciesHumanMouse
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 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: ENSG00000169379 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.

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.



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