ARL13B
Sign in to saveAlso known as ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B
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==
Gene data
ARL13B- Name
- ARF like GTPase 13B
- Type
- protein-coding
- Position
- 93,980,128–94,055,678 (+)
- Aliases
- ARL2L1, JBTS8
- Ensembl
- ENSG00000169379
- RefSeq RNA
- NM_001174150.2, NM_001174151.2, NM_001321328.2, NM_001410782.1, NM_001437443.1
- RefSeq protein
- NP_001167621.1, NP_001167622.1, NP_001308257.1, NP_001397711.1, NP_001424372.1
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. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
ARF like GTPase 13B
- Symbol
- ARL13B
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:93,980,128-94,055,678
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
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==
==External links==
Excerpted from Wikipedia’s “ARL13B” article, available under the CC BY-SA 4.0 licence.