Property Summary

NCBI Gene PubMed Count 54
Grant Count 15
R01 Count 10
Funding $1,067,220.59
PubMed Score 53.44
PubTator Score 51.22

Knowledge Summary

Patent

No data available

Expression

Gene RIF (26)

PMID Text
26254420 BBS1 emerged as a novel predictor of overall survival in MPM.
26103456 M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients.
26022370 We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4.
25494902 A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome.
24939912 Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1.
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
24611735 Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations.
24611592 novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain
23559858 Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1.
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AA Sequence

MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKV      1 - 70
LKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWN     71 - 140
QAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNL    141 - 210
ADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSK    211 - 280
HPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGL    281 - 350
ANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA    351 - 420
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHA    421 - 490
VVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGI    491 - 560
SDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA                                         561 - 593
//

Text Mined References (60)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26254420 2015 Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
26103456 2015 Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
26022370 2015 Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
25494902 2014 Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24691443 2014 Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
24681783 2014 Basal body proteins regulate Notch signaling through endosomal trafficking.
24611735 2015 Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
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