Property Summary

NCBI Gene PubMed Count 46
Grant Count 34
R01 Count 25
Funding $2,136,414.26
PubMed Score 26.55
PubTator Score 25.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
psoriasis -1.200 0.001
posterior fossa group B ependymoma 1.400 0.000
group 3 medulloblastoma 1.300 0.002
lung carcinoma 1.300 0.000
ovarian cancer -1.800 0.000
chronic rhinosinusitis -1.019 0.025

Protein-protein Interaction (9)

Gene RIF (16)

PMID Text
25533820 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 gene was also detected
24867303 Results present evidence of a role for BBS4 in mediating the phosphorylation of TrkB by BDNF and its activation requires a proper localization to the ciliary axoneme.
24691443 loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
24681783 mediates endosomal recycling, sorting and signal transduction of Notch receptors
23716571 Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels.
23554981 Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
22219648 A novel missense mutation in BBS4 that co-segregates with Leber Congenital Amaurosis was identified in a consanguineous family from Saudi Arabia.
20801516 Observational study of genetic testing. (HuGE Navigator)
20508983 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAI      1 - 70
YVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHN     71 - 140
LGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGL    141 - 210
LYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCF    211 - 280
FGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTN    281 - 350
LEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM    351 - 420
AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQ    421 - 490
FTKPPSLPLEPEPAVESSPTETSEQIREK                                             491 - 519
//

Publication (50)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
25533820 2014 A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
25416956 2014 A proteome-scale map of the human interactome network.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24867303 2014 BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.
24691443 2014 Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
24681783 2014 Basal body proteins regulate Notch signaling through endosomal trafficking.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
More...