BBS5 blocking peptide

BBS5 Blocking Peptide (Center)

• Synonyms: BBS5; BBS5 Blocking Peptide (Center); Bardet-Biedl syndrome 5 protein; BBS5 blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 128-141 of HUMAN BBS5
• 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: 341

• Cellular Location: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note: Localizes to basal bodies
• 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 BBS5 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 BBSome complex ciliary localization but not for the proper complex assembly.

NCBI and Uniprot Product Information

• NCBI GI #: 74750959
• NCBI GeneID: 129880
• UniProt Accession #: Q8N3I7; Q6PKN0; D3DPC3
• Molecular Weight: 36,397 Da
• NCBI Official Full Name: Bardet-Biedl syndrome 5 protein
• NCBI Official Synonym Full Names: Bardet-Biedl syndrome 5
• NCBI Official Symbol: BBS5
• NCBI Protein Information: Bardet-Biedl syndrome 5 protein
• UniProt Protein Name: Bardet-Biedl syndrome 5 protein
• Protein Family: Bardet-Biedl syndrome 5 protein
• UniProt Gene Name: BBS5
• UniProt Entry Name: BBS5_HUMAN

NCBI Description

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

Uniprot Description

BBS5: 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 BBS5 are a cause of Bardet-Biedl syndrome type 5 (BBS5). 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. 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 BBS5 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 2q31.1

Cellular Component: cytosol; intracellular

Molecular Function: phosphatidylinositol 3-phosphate binding; protein binding

Biological Process: cilium biogenesis; heart looping; intracellular transport; melanosome transport

Disease: Bardet-biedl Syndrome 5