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Gene ID: 129880 | BBS5 Antibody Resource


BBS5 Antibody Resource
Gene Full Name: 
Bardet-Biedl syndrome 5
Uniprot: 
Q8N3I7
Protein Name: 
Bardet-Biedl syndrome 5 protein
Nucleotide: 
XM_005246288
Alias: 
Ensembl: 
ENSG00000163093
Location: 
2q31.1
HPRD: 
10353
NCBI Gene: 
129880
MIM: 
603650

Summary: 
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]
Function: 
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.
Subcellular location: 
Cell projection › cilium membrane. Cytoplasm. Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriolar satellite. Note: Localizes to basal bodies .
PTM: 
Disease: 
Bardet-Biedl syndrome 5 (BBS5) [MIM:209900]: A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP52931_P050 BBS5 antibody - middle region (ARP52931_P050) Polyclonal Bovine, Dog, Guinea pig, Human, Mouse, Rat, Zebrafish WB 50ug $289 Details
Polyclonal Antibody ARP52930_P050 BBS5 antibody - N-terminal region (ARP52930_P050) Polyclonal Bovine, Dog, Guinea pig, Human, Mouse, Rat, Zebrafish WB 50ug $289 Details

Show all BBS5 antibodies


Product Images
BBS5 antibody - N-terminal region (ARP52930_P050) in Human COLO205 cells using Western Blot

Sample Type: Human COLO205

BBS5 antibody - middle region (ARP52931_P050) in Human 293T cells using Western Blot

Sample Type: Human 293T


BBS5 Protocols

Publications

Related Gene Trend Categories

Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP52930 African clawed frog BBS5 antibody; Xenopus laevis BBS5 antibody Q66IS6 100.0%
ARP52930 Atlantic salmon BBS5 antibody; Salmo salar BBS5 antibody B5X5S5 100.0%
ARP52931 Atlantic salmon BBS5 antibody; Salmo salar BBS5 antibody B5X5S5 93.0%
ARP52931 Bovine BBS5 antibody; Bos taurus BBS5 antibody A6QLF9 100.0%
ARP52930 Bovine BBS5 antibody; Bos taurus BBS5 antibody A6QLF9 93.0%
ARP52930 Channel catfish BBS5 antibody; Ictalurus punctatus BBS5 antibody E3TDT6 100.0%
ARP52931 Channel catfish BBS5 antibody; Ictalurus punctatus BBS5 antibody E3TDT6 100.0%
ARP52930 Chicken BBS5 antibody; Gallus gallus BBS5 antibody E1C569 100.0%
ARP52931 Chicken BBS5 antibody; Gallus gallus BBS5 antibody E1C569 86.0%
ARP38733 Chimpanzee BBS5 antibody; Pan troglodytes BBS5 antibody H2QIY1 100.0%
ARP52930 Chimpanzee BBS5 antibody; Pan troglodytes BBS5 antibody H2QIY1 100.0%
ARP73244 Chimpanzee BBS5 antibody; Pan troglodytes BBS5 antibody H2QIY1 100.0%
ARP52930 Chimpanzee BBS5 antibody; Pan troglodytes BBS5 antibody K7CV40 100.0%
ARP52931 Chimpanzee BBS5 antibody; Pan troglodytes BBS5 antibody K7CV40 100.0%
ARP52930 Chlamydomonas smithii BBS5 antibody; Chlamydomonas reinhardtii BBS5 antibody A8HWI3 91.0%
ARP52930 Chlamydomonas smithii BBS5 antibody; Chlamydomonas reinhardtii BBS5 antibody Q6PSU7 91.0%
ARP52930 Crab-eating macaque BBS5 antibody; Macaca fascicularis BBS5 antibody Q4R649 100.0%
ARP52931 Crab-eating macaque BBS5 antibody; Macaca fascicularis BBS5 antibody Q4R649 100.0%
ARP38733 European domestic ferret BBS5 antibody; Mustela putorius furo BBS5 antibody M3XNT8 100.0%
ARP52930 European domestic ferret BBS5 antibody; Mustela putorius furo BBS5 antibody M3XNT8 100.0%
ARP73244 European domestic ferret BBS5 antibody; Mustela putorius furo BBS5 antibody M3XNT8 100.0%
ARP52930 Giant panda BBS5 antibody; Ailuropoda melanoleuca BBS5 antibody G1LVU0 100.0%
ARP52931 Giant panda BBS5 antibody; Ailuropoda melanoleuca BBS5 antibody G1LVU0 100.0%
ARP38733 Gray short-tailed opossum BBS5 antibody; Monodelphis domestica BBS5 antibody F7CKZ1 100.0%
ARP52930 Gray short-tailed opossum BBS5 antibody; Monodelphis domestica BBS5 antibody F7CKZ1 100.0%
ARP52931 Gray short-tailed opossum BBS5 antibody; Monodelphis domestica BBS5 antibody F7CKZ1 100.0%
ARP73244 Gray short-tailed opossum BBS5 antibody; Monodelphis domestica BBS5 antibody F7CKZ1 93.0%
ARP52930 Green alga BBS5 antibody; Volvox carteri BBS5 antibody D8TIQ4 91.0%
ARP52930 Guinea pig BBS5 antibody; Cavia porcellus BBS5 antibody H0V4D2 100.0%
ARP52931 Guinea pig BBS5 antibody; Cavia porcellus BBS5 antibody H0V4D2 100.0%
ARP52930 Horse BBS5 antibody; Equus caballus BBS5 antibody F7CJR6 100.0%
ARP52931 Horse BBS5 antibody; Equus caballus BBS5 antibody F7CJR6 100.0%
ARP52930 Human BBS5 antibody; Homo sapiens BBS5 antibody Q8N3I7-2 100.0%
ARP52931 Human BBS5 antibody; Homo sapiens BBS5 antibody Q8N3I7-2 100.0%
ARP52930 Human BBS5 antibody; Homo sapiens BBS5 antibody Q8N3I7 100.0%
ARP52931 Human BBS5 antibody; Homo sapiens BBS5 antibody Q8N3I7 100.0%
ARP38733 Human BBS5 antibody; Homo sapiens BBS5 antibody E9PBE3 100.0%
ARP52930 Human BBS5 antibody; Homo sapiens BBS5 antibody E9PBE3 100.0%
ARP73244 Human BBS5 antibody; Homo sapiens BBS5 antibody E9PBE3 100.0%
ARP52930 Human BBS5 antibody; Homo sapiens BBS5 antibody F8WBR7 100.0%
ARP52930 Mouse BBS5 antibody; Mus musculus BBS5 antibody A2AUC6 100.0%
ARP52931 Mouse BBS5 antibody; Mus musculus BBS5 antibody A2AUC6 100.0%
ARP52930 Mouse BBS5 antibody; Mus musculus BBS5 antibody Q9CZQ9 100.0%
ARP52931 Mouse BBS5 antibody; Mus musculus BBS5 antibody Q9CZQ9 100.0%
ARP52930 Mouse BBS5 antibody; Mus musculus BBS5 antibody D6RJ69 100.0%
ARP52931 Mouse BBS5 antibody; Mus musculus BBS5 antibody F6Q242 100.0%
ARP52930 Northern white-cheeked gibbon BBS5 antibody; Nomascus leucogenys BBS5 antibody G1QY66 100.0%
ARP52931 Northern white-cheeked gibbon BBS5 antibody; Nomascus leucogenys BBS5 antibody G1QY66 100.0%
ARP52930 Rainbow smelt BBS5 antibody; Osmerus mordax BBS5 antibody C1BIX4 100.0%
ARP52931 Rainbow smelt BBS5 antibody; Osmerus mordax BBS5 antibody C1BIX4 100.0%
ARP52930 Rat BBS5 antibody; Rattus norvegicus BBS5 antibody B2RZ48 100.0%
ARP52931 Rat BBS5 antibody; Rattus norvegicus BBS5 antibody B2RZ48 100.0%
ARP52930 Rhesus macaque BBS5 antibody; Macaca mulatta BBS5 antibody F7B395 100.0%
ARP52931 Rhesus macaque BBS5 antibody; Macaca mulatta BBS5 antibody F7B395 100.0%
ARP52930 Rhesus macaque BBS5 antibody; Macaca mulatta BBS5 antibody F7GM39 100.0%
ARP52931 Rhesus macaque BBS5 antibody; Macaca mulatta BBS5 antibody F7GM39 100.0%
ARP52930 Spotted green pufferfish BBS5 antibody; Tetraodon nigroviridis BBS5 antibody H3DHP5 100.0%
ARP52931 Spotted green pufferfish BBS5 antibody; Tetraodon nigroviridis BBS5 antibody H3DHP5 100.0%
ARP52930 Sumatran orangutan BBS5 antibody; Pongo abelii BBS5 antibody H2P7R4 100.0%
ARP52931 Sumatran orangutan BBS5 antibody; Pongo abelii BBS5 antibody H2P7R4 100.0%
ARP52930 Western clawed frog BBS5 antibody; Xenopus tropicalis BBS5 antibody A4IHK9 100.0%
ARP52930 Western clawed frog BBS5 antibody; Xenopus tropicalis BBS5 antibody F6SBB9 100.0%
ARP52931 Western clawed frog BBS5 antibody; Xenopus tropicalis BBS5 antibody A4IHK9 93.0%
ARP52931 Western clawed frog BBS5 antibody; Xenopus tropicalis BBS5 antibody F6SBB9 93.0%
ARP52930 Zebrafish BBS5 antibody; Danio rerio BBS5 antibody Q7ZWB7 100.0%
ARP52931 Zebrafish BBS5 antibody; Danio rerio BBS5 antibody Q7ZWB7 93.0%

Tissue & Cell Line Gene Expression Data