Property Summary

NCBI Gene PubMed Count 31
PubMed Score 8.07
PubTator Score 12.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Expression

  Differential Expression (1)

Disease log2 FC p
Breast cancer -1.100 0.000

Synonym

Accession Q8N3I7 D3DPC3 Q6PKN0
Symbols

Gene

  Ortholog (8)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Chicken OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA Inparanoid

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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