Property Summary

NCBI Gene PubMed Count 31
Grant Count 5
R01 Count 5
Funding $396,721.17
PubMed Score 8.07
PubTator Score 12.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
Breast cancer -1.100 0.000

Gene RIF (5)

PMID Text
26867008 analysis of a novel splice variant of BBS5 that appears to be expressed only in the retina
20801516 Observational study of genetic testing. (HuGE Navigator)
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18203199 Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
15137946 identified BBS5, a novel gene for Bardet-Biedl syndrome; it localizes to basal bodies, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella

AA Sequence

MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVS      1 - 70
VGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDF     71 - 140
KLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIK    141 - 210
IRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALT    211 - 280
VEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS             281 - 341
//

Text Mined References (32)

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.
26867008 2016 A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
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.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
22302990 2012 Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
22072986 2011 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
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