Search Antibody, Protein, and ELISA Kit Solutions


Gene ID: 582 | Bbs1 Antibody Resource


Bbs1 Antibody Resource
Gene Full Name: 
Bardet-Biedl syndrome 1
Uniprot: 
Q8NFJ9
Protein Name: 
Bardet-Biedl syndrome 1 protein
Nucleotide: 
XM_005274126
Alias: 
BBS2L2;
Ensembl: 
ENSG00000174483
Location: 
11q13
HPRD: 
01950
NCBI Gene: 
582
MIM: 
209901

Summary: 
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [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 proper BBSome complex assembly and its ciliary localization.
Subcellular location: 
Cell projection › cilium membrane. Cytoplasm. Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriolar satellite .
PTM: 
Acetylation;
Disease: 
Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome.Bardet-Biedl syndrome 1 (BBS1) [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 ARP57663_P050 Bbs1 antibody - N-terminal region (ARP57663_P050) Polyclonal Dog, Horse, Human, Mouse, Rat WB 50ug $289 Details
Polyclonal Antibody ARP57664_P050 BBS1 Antibody (ARP57664_P050) Polyclonal Bovine, Dog, Guinea pig, Horse, Human, Mouse, Pig, Rabbit, Rat, Zebrafish Not tested 50 ug $125 Details

Show all Bbs1 antibodies


Product Images
Bbs1 antibody - N-terminal region (ARP57663_P050) in Mouse Liver cells using Western Blot

Sample Type: Mouse Liver


Bbs1 Protocols

Publications

Related Gene Trend Categories

Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP57663 Cat Bbs1 antibody; Felis catus Bbs1 antibody M3WSX8 100.0%
ARP57664 Cat Bbs1 antibody; Felis catus Bbs1 antibody M3WSX8 100.0%
ARP57663 Chimpanzee Bbs1 antibody; Pan troglodytes Bbs1 antibody H2Q469 100.0%
ARP57664 Chimpanzee Bbs1 antibody; Pan troglodytes Bbs1 antibody H2Q469 100.0%
ARP57663 Chimpanzee Bbs1 antibody; Pan troglodytes Bbs1 antibody K7BAJ5 100.0%
ARP57664 Chimpanzee Bbs1 antibody; Pan troglodytes Bbs1 antibody K7BAJ5 100.0%
ARP57664 Dog Bbs1 antibody; Canis familiaris Bbs1 antibody E2RIJ8 100.0%
ARP57663 Dog Bbs1 antibody; Canis familiaris Bbs1 antibody E2RIJ8 93.0%
ARP57663 European domestic ferret Bbs1 antibody; Mustela putorius furo Bbs1 antibody M3XVF5 100.0%
ARP57664 European domestic ferret Bbs1 antibody; Mustela putorius furo Bbs1 antibody M3XVF5 100.0%
ARP57663 Gray short-tailed opossum Bbs1 antibody; Monodelphis domestica Bbs1 antibody F7E4F6 86.0%
ARP57663 Horse Bbs1 antibody; Equus caballus Bbs1 antibody F7AHJ9 100.0%
ARP57664 Horse Bbs1 antibody; Equus caballus Bbs1 antibody F7AHJ9 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody E7EQH1 100.0%
ARP57664 Human Bbs1 antibody; Homo sapiens Bbs1 antibody E7EQH1 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody E9PPR3 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody E9PR55 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q32MM9 100.0%
ARP57664 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q32MM9 100.0%
ARP57664 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q4G0L2 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q8NFJ9-2 100.0%
ARP57664 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q8NFJ9-2 100.0%
ARP57663 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q8NFJ9 100.0%
ARP57664 Human Bbs1 antibody; Homo sapiens Bbs1 antibody Q8NFJ9 100.0%
ARP57664 Mouse Bbs1 antibody; Mus musculus Bbs1 antibody Q3TQ82 100.0%
ARP57663 Mouse Bbs1 antibody; Mus musculus Bbs1 antibody Q3TTI7 100.0%
ARP57663 Mouse Bbs1 antibody; Mus musculus Bbs1 antibody Q3V3N7 100.0%
ARP57664 Mouse Bbs1 antibody; Mus musculus Bbs1 antibody Q3V3N7 100.0%
ARP57664 Nile tilapia Bbs1 antibody; Oreochromis niloticus Bbs1 antibody I3KSH0 92.0%
ARP57664 Northern white-cheeked gibbon Bbs1 antibody; Nomascus leucogenys Bbs1 antibody M3ZCM3 100.0%
ARP57663 Rat Bbs1 antibody; Rattus norvegicus Bbs1 antibody D4A4U2 100.0%
ARP57664 Rat Bbs1 antibody; Rattus norvegicus Bbs1 antibody D4A4U2 100.0%
ARP57663 Rhesus macaque Bbs1 antibody; Macaca mulatta Bbs1 antibody H9FXV8 100.0%
ARP57664 Rhesus macaque Bbs1 antibody; Macaca mulatta Bbs1 antibody H9FXV8 100.0%
ARP57663 Rhesus macaque Bbs1 antibody; Macaca mulatta Bbs1 antibody H9ZBT7 100.0%
ARP57664 Rhesus macaque Bbs1 antibody; Macaca mulatta Bbs1 antibody H9ZBT7 100.0%
ARP57664 Spotted green pufferfish Bbs1 antibody; Tetraodon nigroviridis Bbs1 antibody H3CYE9 85.0%
ARP57663 Sumatran orangutan Bbs1 antibody; Pongo abelii Bbs1 antibody H2NCR2 100.0%
ARP57664 Sumatran orangutan Bbs1 antibody; Pongo abelii Bbs1 antibody H2NCR2 100.0%
ARP57664 Western clawed frog Bbs1 antibody; Xenopus tropicalis Bbs1 antibody B1H2V5 100.0%
ARP57664 Western clawed frog Bbs1 antibody; Xenopus tropicalis Bbs1 antibody F7DYZ6 100.0%
ARP57664 Zebrafish Bbs1 antibody; Danio rerio Bbs1 antibody A4QP86 100.0%
ARP57664 Zebrafish Bbs1 antibody; Danio rerio Bbs1 antibody B3DFT2 100.0%

Tissue & Cell Line Gene Expression Data
Data SourceProbesetSampleAvgMeanMore Info
BioGPS Gene Atlas218471_s_at721_B_lymphoblasts34.900139.990Details
BioGPS Gene Atlas218471_s_atAdipocyte118.750139.990Details
BioGPS Gene Atlas218471_s_atAdrenalCortex120.450139.990Details
BioGPS Gene Atlas218471_s_atAdrenalgland133.100139.990Details
BioGPS Gene Atlas218471_s_atAmygdala150.750139.990Details
BioGPS Gene Atlas218471_s_atAppendix119.750139.990Details
BioGPS Gene Atlas218471_s_atAtrioventricularNode94.950139.990Details
BioGPS Gene Atlas218471_s_atBDCA4+_DentriticCells73.700139.990Details
BioGPS Gene Atlas218471_s_atBonemarrow99.100139.990Details
BioGPS Gene Atlas218471_s_atBronchialEpithelialCells80.700139.990Details
BioGPS Gene Atlas218471_s_atCD105+_Endothelial89.050139.990Details
BioGPS Gene Atlas218471_s_atCD14+_Monocytes33.150139.990Details
BioGPS Gene Atlas218471_s_atCD19+_BCells(neg._sel.)100.250139.990Details
BioGPS Gene Atlas218471_s_atCD33+_Myeloid108.900139.990Details
BioGPS Gene Atlas218471_s_atCD34+108.950139.990Details
BioGPS Gene Atlas218471_s_atCD4+_Tcells81.050139.990Details
BioGPS Gene Atlas218471_s_atCD56+_NKCells109.950139.990Details
BioGPS Gene Atlas218471_s_atCD71+_EarlyErythroid60.650139.990Details
BioGPS Gene Atlas218471_s_atCD8+_Tcells85.250139.990Details
BioGPS Gene Atlas218471_s_atCardiacMyocytes130.400139.990Details
BioGPS Gene Atlas218471_s_atCaudatenucleus183.550139.990Details
BioGPS Gene Atlas218471_s_atCerebellum182.600139.990Details
BioGPS Gene Atlas218471_s_atCerebellumPeduncles164.350139.990Details
BioGPS Gene Atlas218471_s_atCiliaryGanglion96.500139.990Details
BioGPS Gene Atlas218471_s_atCingulateCortex123.150139.990Details
BioGPS Gene Atlas218471_s_atColorectaladenocarcinoma93.900139.990Details
BioGPS Gene Atlas218471_s_atDorsalRootGanglion90.300139.990Details
BioGPS Gene Atlas218471_s_atFetalThyroid220.200139.990Details
BioGPS Gene Atlas218471_s_atFetalbrain129.950139.990Details
BioGPS Gene Atlas218471_s_atFetalliver85.700139.990Details
BioGPS Gene Atlas218471_s_atFetallung107.000139.990Details
BioGPS Gene Atlas218471_s_atGlobusPallidus86.850139.990Details
BioGPS Gene Atlas218471_s_atHeart122.250139.990Details
BioGPS Gene Atlas218471_s_atHypothalamus207.200139.990Details
BioGPS Gene Atlas218471_s_atKidney236.200139.990Details
BioGPS Gene Atlas218471_s_atLeukemia_chronicMyelogenousK-56286.350139.990Details
BioGPS Gene Atlas218471_s_atLeukemia_promyelocytic-HL-6064.850139.990Details
BioGPS Gene Atlas218471_s_atLeukemialymphoblastic(MOLT-4)67.850139.990Details
BioGPS Gene Atlas218471_s_atLiver117.100139.990Details
BioGPS Gene Atlas218471_s_atLung211.300139.990Details
BioGPS Gene Atlas218471_s_atLymphnode84.300139.990Details
BioGPS Gene Atlas218471_s_atLymphoma_burkitts(Daudi)111.900139.990Details
BioGPS Gene Atlas218471_s_atLymphoma_burkitts(Raji)95.750139.990Details
BioGPS Gene Atlas218471_s_atMedullaOblongata112.400139.990Details
BioGPS Gene Atlas218471_s_atOccipitalLobe113.500139.990Details
BioGPS Gene Atlas218471_s_atOlfactoryBulb105.550139.990Details
BioGPS Gene Atlas218471_s_atOvary90.500139.990Details
BioGPS Gene Atlas218471_s_atPancreas89.350139.990Details
BioGPS Gene Atlas218471_s_atPancreaticIslet141.600139.990Details
BioGPS Gene Atlas218471_s_atParietalLobe124.050139.990Details
BioGPS Gene Atlas218471_s_atPituitary236.350139.990Details
BioGPS Gene Atlas218471_s_atPlacenta127.100139.990Details
BioGPS Gene Atlas218471_s_atPons116.450139.990Details
BioGPS Gene Atlas218471_s_atPrefrontalCortex297.050139.990Details
BioGPS Gene Atlas218471_s_atProstate142.750139.990Details
BioGPS Gene Atlas218471_s_atSalivarygland100.250139.990Details
BioGPS Gene Atlas218471_s_atSkeletalMuscle130.700139.990Details
BioGPS Gene Atlas218471_s_atSkin79.650139.990Details
BioGPS Gene Atlas218471_s_atSmoothMuscle84.850139.990Details
BioGPS Gene Atlas218471_s_atSpinalcord137.500139.990Details
BioGPS Gene Atlas218471_s_atSubthalamicNucleus107.200139.990Details
BioGPS Gene Atlas218471_s_atSuperiorCervicalGanglion132.200139.990Details
BioGPS Gene Atlas218471_s_atTemporalLobe123.750139.990Details
BioGPS Gene Atlas218471_s_atTestis133.700139.990Details
BioGPS Gene Atlas218471_s_atTestisGermCell102.250139.990Details
BioGPS Gene Atlas218471_s_atTestisIntersitial123.450139.990Details
BioGPS Gene Atlas218471_s_atTestisLeydigCell117.650139.990Details
BioGPS Gene Atlas218471_s_atTestisSeminiferousTubule103.500139.990Details
BioGPS Gene Atlas218471_s_atThalamus122.100139.990Details
BioGPS Gene Atlas218471_s_atThymus104.650139.990Details
BioGPS Gene Atlas218471_s_atThyroid398.350139.990Details
BioGPS Gene Atlas218471_s_atTongue85.850139.990Details
BioGPS Gene Atlas218471_s_atTonsil82.650139.990Details
BioGPS Gene Atlas218471_s_atTrachea101.000139.990Details
BioGPS Gene Atlas218471_s_atTrigeminalGanglion110.350139.990Details
BioGPS Gene Atlas218471_s_atUterus134.350139.990Details
BioGPS Gene Atlas218471_s_atUterusCorpus107.800139.990Details
BioGPS Gene Atlas218471_s_atWholeBlood79.850139.990Details
BioGPS Gene Atlas218471_s_atWholebrain162.050139.990Details
BioGPS Gene Atlas218471_s_atcolon123.750139.990Details
BioGPS Gene Atlas218471_s_atpineal_day382.980139.990Details
BioGPS Gene Atlas218471_s_atpineal_night324.620139.990Details
BioGPS Gene Atlas218471_s_atretina371.900139.990Details
BioGPS Gene Atlas218471_s_atsmall_intestine117.200139.990Details
BioGPS NCI60218471_s_at78660.855121.560Details
BioGPS NCI60218471_s_atA17291.522121.560Details
BioGPS NCI60218471_s_atA204157.082121.560Details
BioGPS NCI60218471_s_atA36184.839121.560Details
BioGPS NCI60218471_s_atA49852.027121.560Details
BioGPS NCI60218471_s_atA549194.116121.560Details
BioGPS NCI60218471_s_atACC3210.991121.560Details
BioGPS NCI60218471_s_atACHN88.773121.560Details
BioGPS NCI60218471_s_atALVA3151.844121.560Details
BioGPS NCI60218471_s_atCAKI151.735121.560Details
BioGPS NCI60218471_s_atCCRT CEM96.899121.560Details
BioGPS NCI60218471_s_atCOLO205215.270121.560Details
BioGPS NCI60218471_s_atDLD150.197121.560Details
BioGPS NCI60218471_s_atDU14580.799121.560Details
BioGPS NCI60218471_s_atEKVX271.046121.560Details
BioGPS NCI60218471_s_atGM13359.878121.560Details
BioGPS NCI60218471_s_atGM160098.440121.560Details
BioGPS NCI60218471_s_atGM231396.075121.560Details
BioGPS NCI60218471_s_atGM2345127.957121.560Details
BioGPS NCI60218471_s_atGM249370.566121.560Details
BioGPS NCI60218471_s_atGM9777.666121.560Details
BioGPS NCI60218471_s_atHCC299855.377121.560Details
BioGPS NCI60218471_s_atHCT116132.600121.560Details
BioGPS NCI60218471_s_atHCT15111.209121.560Details
BioGPS NCI60218471_s_atHEK 293 T-rex51.230121.560Details
BioGPS NCI60218471_s_atHEK 293T275.050121.560Details
BioGPS NCI60218471_s_atHEK293108.407121.560Details
BioGPS NCI60218471_s_atHELA103.770121.560Details
BioGPS NCI60218471_s_atHEPG2123.490121.560Details
BioGPS NCI60218471_s_atHL6088.646121.560Details
BioGPS NCI60218471_s_atHOP6245.004121.560Details
BioGPS NCI60218471_s_atHOP9289.989121.560Details
BioGPS NCI60218471_s_atHS578T67.822121.560Details
BioGPS NCI60218471_s_atHSG89.108121.560Details
BioGPS NCI60218471_s_atHT108091.184121.560Details
BioGPS NCI60218471_s_atHT2992.992121.560Details
BioGPS NCI60218471_s_atIGROV1167.623121.560Details
BioGPS NCI60218471_s_atIOSE8068.966121.560Details
BioGPS NCI60218471_s_atJURKAT124.494121.560Details
BioGPS NCI60218471_s_atK56292.606121.560Details
BioGPS NCI60218471_s_atKM1276.029121.560Details
BioGPS NCI60218471_s_atLN18339.065121.560Details
BioGPS NCI60218471_s_atLNCAP187.279121.560Details
BioGPS NCI60218471_s_atLOX IMVI50.502121.560Details
BioGPS NCI60218471_s_atM14146.971121.560Details
BioGPS NCI60218471_s_atMALME 3M92.681121.560Details
BioGPS NCI60218471_s_atMCF759.761121.560Details
BioGPS NCI60218471_s_atMD MB23199.439121.560Details
BioGPS NCI60218471_s_atMDA MB435108.452121.560Details
BioGPS NCI60218471_s_atMOLT451.406121.560Details
BioGPS NCI60218471_s_atNCI 46062.331121.560Details
BioGPS NCI60218471_s_atNCI H22692.212121.560Details
BioGPS NCI60218471_s_atNCI H2369.835121.560Details
BioGPS NCI60218471_s_atNCI H322M108.757121.560Details
BioGPS NCI60218471_s_atNCVADR RES124.373121.560Details
BioGPS NCI60218471_s_atOVCAR3147.752121.560Details
BioGPS NCI60218471_s_atOVCAR490.245121.560Details
BioGPS NCI60218471_s_atOVCAR5203.236121.560Details
BioGPS NCI60218471_s_atOVCAR8100.957121.560Details
BioGPS NCI60218471_s_atPANC1155.440121.560Details
BioGPS NCI60218471_s_atRL766.027121.560Details
BioGPS NCI60218471_s_atRPMI 822691.144121.560Details
BioGPS NCI60218471_s_atRS1184665.985121.560Details
BioGPS NCI60218471_s_atRXF39364.560121.560Details
BioGPS NCI60218471_s_atSAOS245.496121.560Details
BioGPS NCI60218471_s_atSF26851.074121.560Details
BioGPS NCI60218471_s_atSF29550.334121.560Details
BioGPS NCI60218471_s_atSF53937.254121.560Details
BioGPS NCI60218471_s_atSHSYSY+RA85.973121.560Details
BioGPS NCI60218471_s_atSHSYSY-RA125.196121.560Details
BioGPS NCI60218471_s_atSKMEL250.599121.560Details
BioGPS NCI60218471_s_atSKMEL2852.459121.560Details
BioGPS NCI60218471_s_atSKMEL570.397121.560Details
BioGPS NCI60218471_s_atSKOV3548.330121.560Details
BioGPS NCI60218471_s_atSN12C93.189121.560Details
BioGPS NCI60218471_s_atSNB1950.752121.560Details
BioGPS NCI60218471_s_atSNB7569.508121.560Details
BioGPS NCI60218471_s_atSR55.054121.560Details
BioGPS NCI60218471_s_atSW620241.989121.560Details
BioGPS NCI60218471_s_atT2486.459121.560Details
BioGPS NCI60218471_s_atT3M488.703121.560Details
BioGPS NCI60218471_s_atTK1090.941121.560Details
BioGPS NCI60218471_s_atU118178.162121.560Details
BioGPS NCI60218471_s_atU138192.624121.560Details
BioGPS NCI60218471_s_atU20S84.001121.560Details
BioGPS NCI60218471_s_atU25190.431121.560Details
BioGPS NCI60218471_s_atU87422.793121.560Details
BioGPS NCI60218471_s_atUACC25775.742121.560Details
BioGPS NCI60218471_s_atUACC6291.949121.560Details
BioGPS NCI60218471_s_atUO3150.206121.560Details
BioGPS NCI60218471_s_atZR75_1268.207121.560Details
BioGPS NCI60218471_s_atastrocytes140.477121.560Details
BioGPS NCI60218471_s_athuh-7225.292121.560Details