Property Summary

NCBI Gene PubMed Count 30
PubMed Score 63.70
PubTator Score 4931.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -1.400 4.4e-06
astrocytic glioma -1.500 3.8e-02
oligodendroglioma -1.600 4.0e-02
posterior fossa group B ependymoma 1.600 9.9e-13
atypical teratoid / rhabdoid tumor -1.400 2.0e-04
glioblastoma -1.500 2.1e-03
medulloblastoma -1.400 2.5e-04
medulloblastoma, large-cell -2.600 2.4e-07
tuberculosis 1.300 7.0e-06
pediatric high grade glioma -1.200 1.7e-03
ovarian cancer -2.000 4.4e-11

Protein-protein Interaction (2)

Gene RIF (13)

PMID Text
26846096 BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
26085087 BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller.
25631089 The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
24400638 we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
23160099 Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206.
22479622 Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish.
20801516 Observational study of genetic testing. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20161521 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18349106 PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF
18349106 Observational study of gene-disease association. (HuGE Navigator)
16380913 Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene.
12618763 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues

AA Sequence

MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTGDGAQAEDLLL      1 - 70
EVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTY     71 - 140
GSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVL    141 - 210
AFATDADKRQETEQQKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFM    211 - 280
KKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSD    281 - 350
DGHLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN    351 - 420
FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVY    421 - 490
LKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLL    491 - 560
SLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYFEKQGVK    561 - 630
DFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLD    631 - 700
GTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEE    701 - 770
TVDAAISHLLKTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP    771 - 840
GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE                           841 - 887
//

Text Mined References (30)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26846096 2016 Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
26085087 2015 Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
25631089 2015 The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
23943788 2014 BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
23160099 2012 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
22479622 2012 Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
22139371 2011 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
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.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20161521 2009 Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
18349106 2008 Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
16380913 2005 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12618763 2003 The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10221542 1999 Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.