Cell Biology Antibodies 3

Anti-BBS5 Antibody (CAB12681)

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SKU:
CAB12681
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-BBS5 Antibody
Antibody SKU:CAB12681
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-341 of human BBS5 (NP_689597.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:293T
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-341 of human BBS5 (NP_689597.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MSVL DALW EDRD VRFD LSAQ QMKT RPGE VLID CLDS IEDT KGNN GDRG RLLV TNLR ILWH SLAL SRVN VSVG YNCI LNIT TRTA NSKL RGQT EALY ILTK CNST RFEF IFTN LVPG SPRL FTSV MAVH RAYE TSKM YRDF KLRS ALIQ NKQL RLLP QEHV YDKI NGVW NLSS DQGN LGTF FITN VRIV WHAN MNDS FNVS IPYL QIRS IKIR DSKF GLAL VIES SQQS GGYV LGFK IDPV EKLQ ESVK EINS LHKV YSAS PIFG VDYE MEEK PQPL EALT VEQI QDDV EIDS DGHT DAFV AYFA DGNK QQDR EPVF SEEL GLAI EKLK DGFT LQGL WEVM S
Gene ID:129880
Uniprot:Q8N3I7
Cellular Location:Cell projection, Cytoplasm, centriolar satellite, centrosome, cilium basal body, cilium membrane, cytoskeleton, microtubule organizing center
Calculated MW:36kDa/38kDa
Observed MW:48kDa
Synonyms:BBS5
Background: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.
UniProt Protein Function: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.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 2q31.1

Cellular Component: cytosol; intracellular

Molecular Function:phosphatidylinositol 3-phosphate binding; protein binding

Biological Process: heart looping; intracellular transport; melanosome transport

Disease: Bardet-biedl Syndrome 5

NCBI 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]
UniProt Code:Q8N3I7
NCBI GenInfo Identifier:74750959
NCBI Gene ID:129880
NCBI Accession:Q8N3I7.1
UniProt Secondary Accession:Q8N3I7,Q6PKN0, D3DPC3,
UniProt Related Accession:Q8N3I7
Molecular Weight:39kDa
NCBI Full Name:Bardet-Biedl syndrome 5 protein
NCBI 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  
Anti-BBS5 Antibody (CAB12681)Western blot analysis of extracts of 293T cells, using BBS5 antibody (CAB12681) at 1:3000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 10s.
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