BBS4
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Official Full Name
Bardet-Biedl syndrome 4 -
Overview
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the proteins shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified. -
Synonyms
BBS4;Bardet-Biedl syndrome 4;Bardet-Biedl syndrome 4 protein;Bardet Biedl syndrome 4 protein;BBS4_HUMAN
Recombinant Proteins
- Human
- Zebrafish
- Chicken
- Mouse
- E.coli
- Wheat Germ
- Mammalian Cell
- HEK293
- In Vitro Cell Free System
- HEK293T
- GST
- His
- Non
- Myc&DDK
| Cat.# | Product name | Source (Host) | Species | Tag | Protein Length | Price |
|---|---|---|---|---|---|---|
| BBS4-10155H | Recombinant Human BBS4, GST-tagged | E.coli | Human | GST | N-term-351a.a. |
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| BBS4-108H | Recombinant Human BBS4 Protein, GST-tagged | Wheat Germ | Human | GST |
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| BBS4-4740Z | Recombinant Zebrafish BBS4 | Mammalian Cell | Zebrafish | His |
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| BBS4-4856C | Recombinant Chicken BBS4 | Mammalian Cell | Chicken | His |
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| BBS4-8502HCL | Recombinant Human BBS4 293 Cell Lysate | HEK293 | Human | Non |
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| BBS4-1586HF | Recombinant Full Length Human BBS4 Protein, GST-tagged | In Vitro Cell Free System | Human | GST | Full L. 519 amino acids |
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| Bbs4-220M | Recombinant Mouse Bbs4 Protein, MYC/DDK-tagged | HEK293T | Mouse | Myc&DDK |
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| BBS4-3959H | Recombinant Human BBS4 Protein, Myc/DDK-tagged, C13 and N15-labeled | HEK293T | Human | Myc&DDK |
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Involved Pathway
BBS4 involved in several pathways and played different roles in them. We selected most pathways BBS4 participated on our site, such as Assembly of the primary cilium,BBSome-mediated cargo-targeting to cilium,Cargo trafficking to the periciliary membrane, which may be useful for your reference. Also, other proteins which involved in the same pathway with BBS4 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Organelle biogenesis and maintenance | IFT20,MRPL47,TFB1M,MRPS33,MRPL51,MRPS30,ARF4,MRPS36,MRPS23,EXOC3 |
| Assembly of the primary cilium | MAPRE1A,ATAT1,KIFAP3B,IFT22,TTC21B,C11orf60,HSPB11,TCTN3,PKD1,B9D1 |
| Cargo trafficking to the periciliary membrane | NPHP3,CCT5,RHOL,PKD2,BBS10,SETD6,CYS1,BBS5,ARL13B,TTC8 |
| BBSome-mediated cargo-targeting to cilium | BBS2,LZTFL1,CCT5,CCT3,SETD6,PROL1,BBS9,CCT2,BBS7,CCT8 |
Protein Function
BBS4 has several biochemical functions, for example, RNA polymerase II repressing transcription factor binding,alpha-tubulin binding,beta-tubulin binding. Some of the functions are cooperated with other proteins, some of the functions could acted by BBS4 itself. We selected most functions BBS4 had, and list some proteins which have the same functions with BBS4. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| RNA polymerase II repressing transcription factor binding | HDAC2,RBPJ,MKKS,BBS1,MIXL1,GATA6,SP1,GTF2A2,TBX5A,TBP |
| alpha-tubulin binding | ARL8B,RACGAP1,PACRG,ARL8A,SPAST,FNTA,SNCA,SERPINB1A,NDEL1,FAM110C |
| beta-tubulin binding | IFT74,GABARAP,SERPINB1A,SIRT2,PEX14,AKAP1,PIFO,SLC6A2,MAP1S,VAPB |
| microtubule motor activity | DNAH6,KIF2A,KIF2B,KIFC3,KIF4,DYNC1LI2,KIF3B,KIF20B,KIF27,KIF21A |
| protein binding | DNAJB4,NHEJ1,RECK,DPYSL5,SEPT4,FAIM,TTBK2,PNPT1,GSG1,CHMP1B |
| dynactin binding | SNX5,CCDC64,SNX6,HTT,BICD1,PROL1 |
Interacting Protein
BBS4 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with BBS4 here. Most of them are supplied by our site. Hope this information will be useful for your research of BBS4.
PCM1;BBS1
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References
- Hudak, LM; Lunt, S; et al. The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 51:3792-3799(2010).
