Details for: BBS1
Associated with
Other Information
Genular Protein ID: 534285564
Symbol: BBS1_HUMAN
Name: Bardet-Biedl syndrome 1 protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12118255
Title: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
PubMed ID: 12118255
DOI: 10.1038/ng935
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16554811
Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.
PubMed ID: 16554811
DOI: 10.1038/nature04632
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 16327777
Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
PubMed ID: 16327777
DOI: 10.1038/nature04370
PubMed ID: 17574030
Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
PubMed ID: 17574030
PubMed ID: 18000879
Title: Novel interaction partners of Bardet-Biedl syndrome proteins.
PubMed ID: 18000879
DOI: 10.1002/cm.20250
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 22072986
Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
PubMed ID: 22072986
PubMed ID: 24939912
Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
PubMed ID: 24939912
DOI: 10.1093/hmg/ddu267
PubMed ID: 12524598
Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
PubMed ID: 12524598
DOI: 10.1086/346172
PubMed ID: 12567324
Title: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
PubMed ID: 12567324
DOI: 10.1086/368204
PubMed ID: 12677556
Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
PubMed ID: 12677556
DOI: 10.1086/375178
PubMed ID: 12920096
Title: Further support for digenic inheritance in Bardet-Biedl syndrome.
PubMed ID: 12920096
PubMed ID: 15770229
Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
PubMed ID: 15770229
PubMed ID: 21052717
Title: Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
PubMed ID: 21052717
PubMed ID: 21258341
Title: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
PubMed ID: 21258341
DOI: 10.1038/ng.756
PubMed ID: 21344540
Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
PubMed ID: 21344540
DOI: 10.1002/humu.21480
Sequence Information:
- Length: 593
- Mass: 65083
- Checksum: 94C0C05667FE582D
- Sequence:
MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.