ARL6 blocking peptide

ARL6 Antibody (N-term) Blocking Peptide

• Gene Names: ARL6; BBS3; RP55
• Synonyms: ARL6; ARL6 Antibody (N-term) Blocking Peptide; ADP-ribosylation factor-like protein 6; Bardet-Biedl syndrome 3 protein; BBS3; ARL6 blocking peptide

• Specificity: The synthetic peptide sequence used to generate the antibody was selected from the N-term region of human ARL6. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.
• Form/Format: The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.
• Sequence Length: 186

• Cellular 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
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for ARL6 blocking peptide

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 (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).

NCBI and Uniprot Product Information

• NCBI GI #: 14547903
• NCBI GeneID: 84100
• UniProt Accession #: Q9H0F7; A8KA93; D3DN31
• Molecular Weight: 21,960 Da
• NCBI Official Full Name: ADP-ribosylation factor-like protein 6
• NCBI Official Synonym Full Names: ADP ribosylation factor like GTPase 6
• NCBI Official Symbol: ARL6
• NCBI Official Synonym Symbols: BBS3; RP55
• NCBI Protein Information: ADP-ribosylation factor-like protein 6
• UniProt Protein Name: ADP-ribosylation factor-like protein 6
• UniProt Gene Name: ARL6
• UniProt Synonym Gene Names: BBS3
• UniProt Entry Name: ARL6_HUMAN

NCBI Description

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]

Uniprot Description

ARL6: 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. 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. Defects in ARL6 are a cause of Bardet-Biedl syndrome type 3 (BBS3). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Defects in ARL6 are the cause of retinitis pigmentosa type 55 (RP55). RP55 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: G protein; G protein, monomeric, ARF; G protein, monomeric

Chromosomal Location of Human Ortholog: 3q11.2

Cellular Component: axoneme; cilium; cytoplasm; membrane; membrane coat; plasma membrane

Molecular Function: phospholipid binding; protein binding

Biological Process: cilium biogenesis; determination of left/right symmetry; melanosome transport; protein polymerization; protein targeting to membrane; Wnt receptor signaling pathway

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 3; Retinitis Pigmentosa; Retinitis Pigmentosa 55