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BBS4 Proteine (BBS4)

Bezeichnung:
Bardet-Biedl Syndrome 4 Proteine (BBS4)
Auf www.antikoerper-online.de finden Sie aktuell 4 Bardet-Biedl Syndrome 4 (BBS4) Proteine von 3 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen BBS4 Antikörper (77) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 94 BBS4 Produkte verfügbar.
Synonyme:
AW537059, AW742241, CG13232, D9Ertd464e, Dmel\\CG13232, zgc:152964
alle Proteine anzeigen Gen GeneID UniProt
BBS4 585 Q96RK4
Ratte BBS4 BBS4 300754  
BBS4 102774 Q8C1Z7

Weitere Synonyme anzeigen

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Weitere Proteine zu BBS4 Interaktionspartnern

Zebrafish Bardet-Biedl Syndrome 4 (BBS4) Interaktionspartner

  1. we show that a centriolar satellite protein, AZI1 (also known as CEP131), interacts with the BBSome and regulates BBSome ciliary trafficking activity. Furthermore, we show that AZI1 interacts with the BBSome through BBS4

  2. loss of BBS1 (zeige BBS1 Proteine), BBS4, or OFD1 led to decreased NF-kappaB (zeige NFKB1 Proteine) activity and concomitant IkappaBbeta (zeige NFKBIB Proteine) accumulation and that these defects were ameliorated with SFN (zeige SFN Proteine) treatment.

Human Bardet-Biedl Syndrome 4 (BBS4) Interaktionspartner

  1. a novel nonsense mutation in BBS4 gene in a Chinese family with Bardet-Biedl syndrome. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein; a rare heterozygous missense SNP in BBS10 (zeige BBS10 Proteine) gene was also detected

  2. Results present evidence of a role for BBS4 in mediating the phosphorylation of TrkB (zeige NTRK2 Proteine) by BDNF (zeige BDNF Proteine) and its activation requires a proper localization to the ciliary axoneme.

  3. mediates endosomal recycling, sorting and signal transduction of Notch (zeige NOTCH1 Proteine) receptors

  4. loss of BBS1 (zeige BBS1 Proteine), BBS4, or OFD1 (zeige OFD1 Proteine) led to decreased NF-kappaB (zeige NFKB1 Proteine) activity and concomitant IkappaBbeta (zeige NFKBIB Proteine) accumulation and that these defects were ameliorated with SFN (zeige SFN Proteine) treatment.

  5. Findings indicate that Bbs (zeige BBS2 Proteine) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (zeige RHOA Proteine) levels.

  6. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

  7. A novel missense mutation in BBS4 that co-segregates with Leber Congenital Amaurosis was identified in a consanguineous family from Saudi Arabia.

  8. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening.

  9. The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease.

  10. A novel Frameshift Mutation between the splice donor site and exon 5 of BBS4 in a Bardet-Biedl syndrome patient and a novel heterozygous base substitution in both an affected mother and her affected daughter.

Mouse (Murine) Bardet-Biedl Syndrome 4 (BBS4) Interaktionspartner

  1. Bbs1 (zeige BBS1 Proteine), Bbs2 (zeige BBS2 Proteine), and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.

  2. Bbs4 silencing in 3T3F442A preadipocytes induced accelerated cell division and aberrant differentiation. Bbs4 silenced cells accumulate significantly more triglycerides than control adipocytes.

  3. The BBSome binds to the N-terminal region of CEP290 through BBS4 and co-localizes with CEP290 to the transition zone (TZ) of primary cilia and centriolar satellites in ciliated cells, as well as to the connecting cilium in photoreceptor cells.

  4. loss of BBS1 (zeige BBS1 Proteine), BBS4, or OFD1 led to decreased NF-kappaB (zeige NFKB1 Proteine) activity and concomitant IkappaBbeta (zeige NFKBIB Proteine) accumulation and that these defects were ameliorated with SFN (zeige SFN Proteine) treatment.

  5. Bbs4-null mice develop both motile and primary cilia, demonstrating that Bbs4 is not required for global cilia formation.

  6. deletions of Bbs1 (zeige BBS1 Proteine) or Bbs4 affected the olfactory epithelium, causing severe reduction of the ciliated border, disorganization of the dendritic microtubule network and trapping of olfactory ciliary proteins in dendrites and cell bodies.

  7. Evaluations of mice null for Bbs4, have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human Bardet-Biedl syndrome phenotype.

  8. Lacking Bbs4 does not lead to aberrant cilia or basal body structure. However, the dynamics of cilia assembly is altered in Bbs4(-/-) cells, suggesting a role for Bbs4 in the regulation of ciliary assembly.

  9. The specific loss of photoreceptors in Bbs4(-)(/)(-) mice allows us to identify a set of genes that are preferentially expressed in photoreceptors compared with other cell types found in the eye

  10. ablation of BBS1 and BBS4 leads to alterations of s.c. sensory innervation and trafficking of the thermosensory channel TRPV1 and the mechanosensory channel STOML3

BBS4 Protein Überblick

Protein Überblick

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 protein's 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.

Alternative names and synonyms associated with BBS4

  • Bardet-Biedl syndrome 4 (BBS4)
  • CG13232 gene product from transcript CG13232-RA (BBS4)
  • Bardet-Biedl syndrome 4 (bbs4)
  • bardet-biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 4 (Bbs4)
  • Bardet-Biedl syndrome 4 (human) (Bbs4)
  • AW537059 Protein
  • AW742241 Protein
  • CG13232 Protein
  • D9Ertd464e Protein
  • Dmel\\CG13232 Protein
  • zgc:152964 Protein

Bezeichner auf Proteinebene für Bardet-Biedl Syndrome 4 Proteine (BBS4)

BBS4-PA , CG13232-PA , Bardet-Biedl syndrome 4 , Bardet-Biedl syndrome 4 protein homolog , bardet-biedl syndrome 4 , bardet-Biedl syndrome 4 protein-like , Bardet-Biedl syndrome 4 protein-like , Bardet-Biedl syndrome 4 protein , Bardet-Biedl syndrome 4 homolog

GENE ID SPEZIES
100063282 Equus caballus
36167 Drosophila melanogaster
415318 Gallus gallus
453726 Pan troglodytes
549034 Xenopus (Silurana) tropicalis
704508 Macaca mulatta
768303 Danio rerio
8240628 Micromonas sp. RCC299
9680603 Micromonas pusilla CCMP1545
100028985 Monodelphis domestica
100227428 Taeniopygia guttata
100415623 Callithrix jacchus
100443076 Pongo abelii
100473881 Ailuropoda melanoleuca
585 Homo sapiens
487634 Canis lupus familiaris
100513212 Sus scrofa
532120 Bos taurus
300754 Rattus norvegicus
102774 Mus musculus
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