BBS4 blocking peptide

BBS4 Antibody (Center) Blocking Peptide

• Synonyms: BBS4; BBS4 Antibody (Center) Blocking Peptide; Bardet-Biedl syndrome 4 protein; BBS4 blocking peptide

• Specificity: The synthetic peptide sequence used to generate the antibody was selected from the Center region of human BBS4. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 519

• Cellular Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Cell projection, cilium, flagellum. Note: Localizes to the pericentriolar region throughout the cell cycle Centrosomal localization requires dynein
• Tissue Location: Ubiquitously expressed. The highest level of expression is found in the kidney
• 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 BBS4 blocking peptide

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

NCBI and Uniprot Product Information

• NCBI GI #: 160359000
• NCBI GeneID: 585
• UniProt Accession #: Q96RK4; Q53DZ5; Q8NHU9; Q96H45; B4E178
• Molecular Weight: 38,282 Da
• NCBI Official Full Name: Bardet-Biedl syndrome 4 protein
• NCBI Official Synonym Full Names: Bardet-Biedl syndrome 4
• NCBI Official Symbol: BBS4
• NCBI Protein Information: Bardet-Biedl syndrome 4 protein
• UniProt Protein Name: Bardet-Biedl syndrome 4 protein
• Protein Family: Bardet-Biedl syndrome 4 protein
• UniProt Gene Name: BBS4
• UniProt Entry Name: BBS4_HUMAN

NCBI Description

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Uniprot Description

BBS4: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive 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. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Belongs to the BBS4 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Microtubule-binding; Cell development/differentiation; Adaptor/scaffold

Chromosomal Location of Human Ortholog: 15q22.3-q23

Cellular Component: centriole; centrosome; cilium; cytosol; nonmotile primary cilium; pericentriolar material

Molecular Function: alpha-tubulin binding; beta-tubulin binding; microtubule motor activity; protein binding

Biological Process: adult behavior; brain morphogenesis; centrosome organization and biogenesis; cerebral cortex development; cilium biogenesis; cytokinesis after mitosis; dendrite development; fat cell differentiation; heart looping; hippocampus development; intracellular transport; maintenance of protein localization in nucleus; melanosome transport; microtubule cytoskeleton organization and biogenesis; neural tube closure; photoreceptor cell maintenance; positive regulation of flagellum biogenesis; protein localization in organelle; regulation of cytokinesis; regulation of lipid metabolic process; retinal homeostasis; retinal rod cell development; sensory cilium biogenesis; sensory perception of smell; sensory processing; spermatid development; striatum development

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 4