Mouse BBS4 Monoclonal Antibody | anti-BBS4 antibody

BBS4 Antibody (Center)

Cat. Num. AAA9231642

• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, ELISA
• Synonyms: BBS4; Monoclonal Antibody; BBS4 Antibody (Center); Bardet-Biedl syndrome 4 protein; anti-BBS4 antibody

• Host: Mouse
• Reactivity: Human, Mouse, Rat
• Clonality: Monoclonal
• Isotype: IgG1
• Specificity: This BBS4 antibody is generated from a mice immunized with a recombinant protein between 1-240 amino acids from human BBS4.
• Form/Format: Purified monoclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein G column, followed by dialysis against PBS.
• Sequence Length: 519

• Applicable Applications for anti-BBS4 antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:1000
• Antigen Source: Human
• Antigen Region: 1-240
• Antigen Type: Recombinant Protein
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 2 weeks. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Western Blot (WB)

(Western blot analysis of lysates from Hela,U-251 MG cell line,mouse heart,mouse kidney,rat kidney tissue (from left to right), using BBS4 Antibody (Center). It was diluted at 1:1000 at each lane. A goat anti-mouse IgG H&L(HRP) at 1:10000 dilution was used as the secondary antibody.Lysates at 20ug per lane.)

Related Product Information for anti-BBS4 antibody

Description: Purified Mouse Monoclonal Antibody (Mab)

Background: 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.

References

Mykytyn K.,et al.Nat. Genet. 28:188-191(2001). Ye X.,et al.DNA Seq. 15:213-218(2004). Ota T.,et al.Nat. Genet. 36:40-45(2004). Zody M.C.,et al.Nature 440:671-675(2006). Badano J.L.,et al.Nature 439:326-330(2006).

NCBI and Uniprot Product Information

• NCBI GI #: 160359000
• NCBI GeneID: 585
• UniProt Accession #: Q96RK4
• Molecular Weight: 58282
• 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 cognitive disability. 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: Cell development/differentiation; Adaptor/scaffold; Microtubule-binding

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

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

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

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

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