Recombinant Human ARL6 Protein
Beta LifeScience
SKU/CAT #: BLA-12229P
Recombinant Human ARL6 Protein
Beta LifeScience
SKU/CAT #: BLA-12229P
Collections: Other recombinant proteins, Recombinant proteins
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
Host Species | Human |
Accession | Q9H0F7 |
Synonym | ADP ribosylation factor like 6 ADP ribosylation factor like protein 6 ADP-ribosylation factor-like protein 6 Arl6 ARL6_HUMAN Bardet Biedl syndrome 3 protein Bardet-Biedl syndrome 3 protein BBS3 MGC32934 |
Description | Recombinant Human ARL6 Protein was expressed in E.coli. It is a Full length protein |
Source | E.coli |
AA Sequence | MGSSHHHHHH SSGLVPRGSH SGQGRYRNLW EHYYKEGQAI IFVIDSSDRL RMVVAKEELD TLLNHPDIKH RRIPILFFAN KMDLRDAVTS VKVSQLLCLE NIKDKPWHIC MGLLDRLSVL LGLKKKEVHV LCLGLDNSGK TTIINKLKPS NAQSQNILPT IGFSIEKFKS SSLSFTVFDM ASDAIKGEGL QEGVDWLQDQ IQTVKT |
Molecular Weight | 23 kDa including tags |
Purity | >90% SDS-PAGE.Purified using conventional chromatography. |
Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method |
Formulation | Liquid Solution |
Stability | The recombinant protein samples are stable for up to 12 months at -80°C |
Reconstitution | See related COA |
Unit Definition | For Research Use Only |
Storage Buffer | Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. |
Target Details
Target Function | Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization. |
Subcellular Location | Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane. |
Protein Families | Small GTPase superfamily, Arf family |
Database References | |
Associated Diseases | Bardet-Biedl syndrome 3 (BBS3); Retinitis pigmentosa 55 (RP55) |
Gene Functions References
- Mutations of the ARL6 gene cause Bardet-Biedl syndrome, a heterogeneous disorder that increases the risk of Hypertension and Diabetes mellitus. PMID: 27271309
- Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls. PMID: 25704570
- Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
- The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia. PMID: 25402481
- Arl6 is indispensable in cilia signaling but dispensable in ciliogenesis (Review). PMID: 23548655
- BBS3 A89V is sufficient to rescue the transport delays induced by the loss of BBS3 but was unable to rescue vision impairment PMID: 21282186
- Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. PMID: 20207729
- the first null mutation reported in BBS3 gene in patient with Bardet-Biedl syndrome PMID: 20142850
- These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. PMID: 20333246
- We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. PMID: 15314642
- These findings implicate that Arl6 mutants are destabilized and eliminated by the proteasome in cells, probably due to the altered nucleotide-binding properties. PMID: 19236846