Human ARL6 Recombinant Protein (RPPB2794)

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SKU:
RPPB2794
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q9H0F7

Description

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Product Name:Human ARL6 Recombinant Protein
Product Code:RPPB2794
Size:10µg
Species:Human
Target:ARL6
Synonyms:ADP-ribosylation factor-like 6, Bardet-Biedl syndrome 3 protein, BBS3, RP55, MGC32934.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:ARL6 protein solution (0.5mg/1ml) containing 20mM Tris-HCl buffer (pH8.0), 20% glycerol, 0.2M NaCl and 5mM DTT.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGLLDRLSVL LGLKKKEVHV LCLGLDNSGK TTIINKLKPS NAQSQNILPT IGFSIEKFKS SSLSFTVFDM SGQGRYRNLW EHYYKEGQAI IFVIDSSDRL RMVVAKEELD TLLNHPDIKH RRIPILFFAN KMDLRDAVTS VKVSQLLCLE NIKDKPWHIC ASDAIKGEGL QEGVDWLQDQ IQTVKT

ARL6 is a member of the ARF family of GTP-binding proteins. ARL6 has a vital part in modulating membrane trafficking and cytoskeletal functions. Mutation in ARL6 is the source of Bardet-Biedl syndrome (BBS3) which is a pleiotropic genetic disorder that causes obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnor-malities and developmental delay.

ARL6 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 206 amino acids (1-186a.a) and having a molecular mass of 23.2kDa.ARL6 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function: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.
UniProt Protein Details:

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

NCBI Summary: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 Code:Q9H0F7
NCBI GenInfo Identifier:14547903
NCBI Gene ID:84100
NCBI Accession:Q9H0F7.1
UniProt Secondary Accession:Q9H0F7,A8KA93, D3DN31,
UniProt Related Accession:Q9H0F7
Molecular Weight:21,960 Da
NCBI Full Name:ADP-ribosylation factor-like protein 6
NCBI 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 Synonym Protein Names:Bardet-Biedl syndrome 3 protein
UniProt Gene Name:ARL6��
UniProt Entry Name:ARL6_HUMAN
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