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BBS1 Antibodies
AND BBS1 ELISA kits, BBS1 Proteins
Many biological assays use antibodies to detect BBS1, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with BBS1 in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop BBS1 antibodies...
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BBS1 Overview
Facts about Bardet-Biedl syndrome 1 protein.
Bardet-Biedl syndrome 1 protein (BBS1)
The BBSome complex is supposed to function as a coat complex required for sorting of certain membrane proteins into the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite operate.
This ciliogenic function is mediated in part by the Rab8 GDP/GTP market factor, which localizes to the basal body and connections the BBSome. Rab8(GTP) enters the primary cilium and promotes expansion of the ciliary membrane.
Gene Information
| Human | |
|---|---|
| Gene Name: | BBS1 |
| Uniprot: | Q8NFJ9 |
| Entrez: | 582 |
Family
| Belongs to: |
|---|
| No superfamily |
Alternative Names
Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1; BBS2L2; BBS2-like protein 2; FLJ23590; MGC126183; MGC126184; MGC51114
Molecular Weight
Mass (kDA):
65.083 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 11q13.2 |
| Sequence: | 11; NC_000011.10 (66510635..66533598) |
Tissue Specificity
Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
Subcellular Localizations
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Diseases
- Bardet-biedl Syndrome
- Obesity
- Polydactyly
- Retinitis Pigmentosa
- Retinal Diseases
- Dystrophy
- Diabetes Mellitus
- Hypertensive Disease
- Retinal Dystrophies
- Hypogonadism
- Retinal Degeneration
Interacting Proteins
- ALDOB
- ARL6
- BBS2
- BBS4
- BBS7
- BBS9
- EEF1A1
- IQCB1
- PCM1
Pathways
- Pathogenesis
- Transport
- Intraflagellar Transport
- Localization
- Cell Death
- Cell Growth
- Innervation
- Cell Migration
- Proteolysis
- Pigmentation
- Neurogenesis
- Phototaxis
- Membrane Biogenesis
PTMs
- Phosphorylation
Research Areas
- Vision
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/BBS1
bosterbio.com/bosterbio-gene-info-cards/BBS1
References
PMID: 12118255 by Mykytyn K., et al. Identification of the gene (BBS1) most commonly involved in Bardet- Biedl syndrome, a complex human obesity syndrome.
PMID: 16327777 by Badano J.L., et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome.