ARL13B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ARL13B |
| Official Name | ADP ribosylation factor like GTPase 13B [Source:HGNC Symbol;Acc:HGNC:25419] |
| Ensembl ID | ENSG00000169379 |
| Bio databases IDs | |
| Aliases | ADP ribosylation factor like GTPase 13B |
| Synonyms | A530097K21Rik, A930014M17Rik, ADP-ribosylation factor-like 13B, ARF like GTPase 13B, ARL2L1, C530009C10Rik, hnn, JBTS8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARL13B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sar1p-like members of the Ras-family of small GTPases
- ADP-ribosylation factor family
- Ras family
- 50S ribosome-binding GTPase
- protein binding
- Ras of Complex, Roc, domain of DAPkinase
- ADP-ribosylation factor
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Joubert syndrome related disorder
- joubert syndrome type 8
- cancer
- brain cancer
- central nervous system cancer
- head and neck cancer
- head and neck neoplasia
- Joubert syndrome type 1
- hereditary disorder
- Joubert syndrome
role in cell
- expression in
- proliferation
- assembly
- number
- senescence
- length
- function
- degeneration
- downregulation in
- positioning
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- motile cilia
- microtubule cytoskeleton
- cilia
- basal bodies
- axonemes
- cytoplasmic bridges
- cytosol
- primary cilia
- basal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARL13B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- interneuron migration from the subpallium to the cortex
- heart looping
- smoothened signaling pathway
- formation of radial glial scaffolds
- left/right axis specification
- neural tube patterning
- dorsal/ventral pattern formation
Cellular Component
Where in the cell the gene product is active
- motile cilium
- cilium
- cytosol
- cilium membrane
- axoneme
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity