ARL6 Gene Summary [Human]
The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ARL6 |
| Official Name | ADP ribosylation factor like GTPase 6 [Source:HGNC Symbol;Acc:HGNC:13210] |
| Ensembl ID | ENSG00000113966 |
| Bio databases IDs | |
| Aliases | ADP ribosylation factor like GTPase 6 |
| Synonyms | 1110018H24Rik, 2210411E14Rik, ADP-ribosylation factor-like 6, ARF like GTPase 6, Arl6 predicted, BBS3, LOC100506362, MGC32934, RP55 |
| 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 ARL6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP binding
- Sar1p-like members of the Ras-family of small GTPases
- phospholipid binding
- ADP-ribosylation factor family
- pentosyltransferase
- 50S ribosome-binding GTPase
- enzyme
- protein binding
- Ras of Complex, Roc, domain of DAPkinase
- ADP-ribosylation factor
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- autosomal recessive retinitis pigmentosa
- dyspnea
- cyanosis
- hypoplasia
- Bardet-Biedl syndrome type 3
- complete atrioventricular septal defect
- Bardet-Biedl syndrome type 1
- Bardet-Biedl syndrome
- retinitis pigmentosa
regulates
- NPY2R
- WNT
- BBSome
role in cell
- abnormal morphology
- assembly
- lack
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- intracellular membrane-bounded organelle
- cilia
- cellular membrane
- Plasma Membrane
- basal bodies
- axonemes
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARL6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein polymerization
- vesicle-mediated transport
- cilium morphogenesis
- Wnt receptor signaling pathway
- intracellular protein transport
- visual perception
- protein targeting to membrane
- determination of left/right symmetry
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- membrane coat
- microtubule cytoskeleton
- axonemal microtubule
- extracellular vesicular exosome
- cytoplasm
- membrane
- cilium
- axoneme
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- GTPase activity
- phospholipid binding