Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BBS1 Gene

protein-coding   GIFtS: 53
GCID: GC11P066276

Bardet-Biedl Syndrome 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bardet-Biedl Syndrome 11 2
BBS2L22 3
BBS2-Like Protein 22 3
Bardet-Biedl Syndrome 1 Protein2

External Ids:    HGNC: 9661   Entrez Gene: 5822   Ensembl: ENSG000001744837   OMIM: 2099015   UniProtKB: Q8NFJ93   

Export aliases for BBS1 gene to outside databases

Previous GC identifers: GC11U990008 GC11P066499 GC11P066024 GC11P066025 GC11P066006 GC11P066247


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BBS1 Gene:
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The
encoded protein may play a role in eye, limb, cardiac and reproductive system development. (provided by RefSeq,
Jul 2008)

GeneCards Summary for BBS1 Gene: 
BBS1 (Bardet-Biedl syndrome 1) is a protein-coding gene. Diseases associated with BBS1 include bardet-biedl syndrome 1, and bbs1-related bardet-biedl syndrome. GO annotations related to this gene include protein binding. An important paralog of this gene is ENSG00000256349.

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9
Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.
This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal
body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane.
Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor
(GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles
to the base of the ciliary membrane

Gene Wiki entry for BBS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBS1 gene promoter:
         SRF   Elk-1   AML1a   SRF (504 AA)   POU3F1   MyoD   E47   Evi-1   ZIC2/Zic2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13

BBS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066276:  view genomic region     (about GC identifiers)

Start:
66,278,077 bp from pter      End:
66,301,098 bp from pter
Size:
23,022 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 1 protein  
Size: 593 amino acids; 65083 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome
complex binds to PCM1 and tubulin. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B
Subcellular location: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar
satellites in the cytoplasm
Secondary accessions: Q32MN0 Q96SN4
Alternative splicing: 2 isoforms:  Q8NFJ9-1   Q8NFJ9-2   (Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBS1: NX_Q8NFJ9

Explore proteomics data for BBS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFJ9

  • BBS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BBS1 Protein Expression
    REFSEQ proteins: NP_078925.3  
    ENSEMBL proteins: 
     ENSP00000432140   ENSP00000436073   ENSP00000317469   ENSP00000434360   ENSP00000436860  
     ENSP00000434619   ENSP00000431187   ENSP00000405764   ENSP00000434197   ENSP00000431866  
     ENSP00000377563   ENSP00000436927   ENSP00000436195   ENSP00000439873  

    Human Recombinant Protein Products for BBS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for BBS1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for BBS1
    GenScript Custom Purified and Recombinant Proteins Services for BBS1
    Novus Biologicals BBS1 Proteins
    Novus Biologicals BBS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BBS1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0034464BBSome IDA17574030
    GO:0060170cilium membrane IEA--

    BBS1 for ontologies           About GeneDecksing



    BBS1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for BBS1
    GenScript Custom Superior Antibodies Services for BBS1
    Novus Biologicals BBS1 Antibodies
    Abcam antibodies for BBS1
    Cloud-Clone Corp. Antibodies for BBS1 
    Search ThermoFisher Antibodies for BBS1
    Search LSBio for Antibodies for BBS1 

    Assay Products for BBS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BBS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BBS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BBS1 
    Cloud-Clone Corp. CLIAs for BBS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR011047 Quinonprotein_ADH-like_supfam

    Graphical View of Domain Structure for InterPro Entry Q8NFJ9

    ProtoNet protein and cluster: Q8NFJ9


    BBS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BBS1_HUMAN, Q8NFJ9
    Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.
    This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal
    body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane.
    Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor
    (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles
    to the base of the ciliary membrane

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding IPI--
    GO:0005119smoothened binding IPI--
    GO:0005515protein binding IPI16327777
         
    BBS1 for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Bbs1) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     nervous system  renal/urinary system  reproductive system  respiratory system  taste/olfaction 

    BBS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BBS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BBS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BBS1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS1:
    hsa-miR-148b* hsa-miR-3938 hsa-miR-3945 hsa-miR-4277 hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidBBS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BBS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BBS1
    Sirion Biotech Customized adenovirus for overexpression of BBS1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for BBS1 (see all 8)
    OriGene ORF clones in mouse, rat for BBS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BBS1 (NM_024649)
    Sino Biological Human cDNA Clone for BBS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1
    Sirion Biotech Customized lentivirus for stable overexpression of BBS1 
                         Customized lentivirus expression plasmids for stable overexpression of BBS1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BBS1
    Search LifeMap BioReagents cell lines for BBS1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBS1

    5/30 Interacting proteins for BBS1 (Q8NFJ91, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC91, 3EBI-1805484,EBI-748297 I2D: score=2 
    ALDOBP050621, 3EBI-1805484,EBI-1045507 I2D: score=1 
    ARL6Q9H0F71, 3EBI-1805484,EBI-2891949 I2D: score=1 
    BBS4Q96RK41, 3EBI-1805484,EBI-1805814 I2D: score=1 
    BBS7Q8IWZ61, 3EBI-1805484,EBI-1806001 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IMP17980398
    GO:0007601visual perception IEA--
    GO:0035058nonmotile primary cilium assembly IMP17980398
    GO:0042384cilium assembly IMP17574030
    GO:0043001Golgi to plasma membrane protein transport IMP19150989

    BBS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BBS1

    Search CenterWatch for drugs/clinical trials and news about BBS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BBS1 gene: 
    NM_024649.4  

    Unigene Cluster for BBS1:

    Bardet-Biedl syndrome 1
    Hs.502915  [show with all ESTs]
    Unigene Representative Sequence: AK095638
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000526760(uc001oil.1 uc001oik.1) ENST00000533644 ENST00000318312(uc010rpg.1 uc001oij.1)
    ENST00000527251 ENST00000526815 ENST00000533557(uc010rpf.1) ENST00000525809
    ENST00000455748 ENST00000529955(uc010rph.1) ENST00000526035 ENST00000534730
    ENST00000532908 ENST00000529766 ENST00000393994 ENST00000524907 ENST00000524705
    ENST00000524458 ENST00000533430
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS1:
    hsa-miR-148b* hsa-miR-3938 hsa-miR-3945 hsa-miR-4277 hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidBBS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BBS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1
    Clone
    Products:
         
    OriGene clones in human, mouse for BBS1 (see all 8)
    OriGene ORF clones in mouse, rat for BBS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BBS1 (NM_024649)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1
    Sirion Biotech Customized lentivirus for stable overexpression of BBS1 
                         Customized lentivirus expression plasmids for stable overexpression of BBS1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BBS1
    OriGene qSTAR qPCR primer pairs in human, mouse for BBS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BBS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1

    Additional mRNA sequence: 

    AF503941.1 AK027243.1 AK095638.1 AK294962.1 AK296311.1 AK302657.1 BC047642.1 BC109064.2 
    BC109065.1 BX647612.1 

    22 DOTS entries:

    DT.443759  DT.100802065  DT.120710806  DT.91732353  DT.120710798  DT.97845737  DT.95352771  DT.100802061 
    DT.99943549  DT.40224821  DT.95352772  DT.75157452  DT.100802063  DT.86841246  DT.102834828  DT.120710754 
    DT.203214  DT.91732347  DT.91674227  DT.95352764  DT.109646  DT.95290947 

    24/528 AceView cDNA sequences (see all 528):

    CF265121 CD366941 AA227550 BQ278885 BI769955 AI653853 AA496492 AW182599 
    AA594571 BM709553 AA769430 BI818832 BM927031 BE895930 BU688478 BM745258 
    BM450721 CR620853 BI962519 CA502798 BQ686543 BQ422980 AW002200 AI367437 

    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for BBS1 (see all 25)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^
    SP1:              -           -                                                                 -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b · 31c · 31d ^ 32a · 32b ^
    SP1:                                                                                                                                                            
    SP2:        -     -     -     -     -     -     -                                         -                                   -                 -     -     -   
    SP3:                                            -                                         -                                   -                 -     -     -   
    SP4:                                            -           -                             -                                   -                 -     -     -   
    SP5:                                            -                                         -                                   -     -     -     -     -     -   

    ExUns: 33a · 33b · 33c · 33d ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b ^ 40a · 40b ^ 41a · 41b
    SP1:                                                                                                
    SP2:                                            -                       -                           
    SP3:                                            -                       -                           
    SP4:                                            -                                                   
    SP5:  -     -     -     -     -                 -                                                   


    ECgene alternative splicing isoforms for BBS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BBS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTTTAGC
    BBS1 Expression
    About this image


    See BBS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBS1

    SOURCE GeneReport for Unigene cluster: Hs.502915

    UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9
    Tissue specificity: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue,
    heart, skeletal muscle and pancreas

        SABiosciences Expression via Pathway-Focused PCR Array including BBS1: 
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BBS1
    OriGene qSTAR qPCR primer pairs in human, mouse for BBS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BBS1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BBS1 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs11 , 5 Bardet-Biedl syndrome 1 (human)1, 5 87.24(n)1
    92.24(a)1
      19 (4.14 cM)5
    520281  NM_001033128.31  NP_001028300.11 
     48868985 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    63(a)
    1 → many
    GL344045.1(95887-126444)
    zebrafish
    (Danio rerio)
    Actinopterygii bbs11 Bardet-Biedl syndrome 1 65.28(n)
    67.94(a)
      568986  NM_001098251.1  NP_001091721.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BBS11 BBS1 46.56(n)
    31.42(a)
      38780  NM_139823.1  NP_648080.1 
    worm
    (Caenorhabditis elegans)
    Secernentea bbs-11 Protein BBS-1 43.83(n)
    28.85(a)
      260219  NM_170937.1  NP_740933.1 


    ENSEMBL Gene Tree for BBS1 (if available)
    TreeFam Gene Tree for BBS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BBS1 gene
    ENSG000002563492  
    1 SIMAP similar gene for BBS1 using alignment to 11 protein entries:     BBS1_HUMAN (see all proteins):
    DKFZp313N0733

    BBS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/551 SNPs in BBS1 are shown (see all 551)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0388864
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388862 Y S mis40--------
    VAR_0388834
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388832 R Q mis40--------
    VAR_0172174
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0172172 L P mis40--------
    VAR_0388844
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388842 G S mis40--------
    VAR_0388814
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388812 K E mis40--------
    VAR_0388874
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388872 L H mis40--------
    VAR_0388804
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388802 H R mis40--------
    VAR_0388884
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0388882 L Q mis40--------
    VAR_0662784
    Bardet-Biedl syndrome 1 (BBS1)4--see VAR_0662782 I T mis40--------
    rs2006889851,2,4
    Bardet-Biedl syndrome 1 (BBS1)4 --66203320(+) GAATCA/GACCCC 2 N D mis10--------

    HapMap Linkage Disequilibrium report for BBS1 (66278077 - 66301098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BBS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897787CNV Loss21882294
    nsv522277CNV Loss19592680
    nsv832193CNV Loss17160897
    dgv1187n71CNV Loss21882294
    nsv468601CNV Loss19166990


    Human Gene Mutation Database (HGMD): BBS1

    Locus Specific Mutation Databases (LSDB): BBS1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BBS1
    DNA2.0 Custom Variant and Variant Library Synthesis for BBS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 209901   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies.
    Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities,
    fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral
    nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
    syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others.
    Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders,
    leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1,
    influence the clinical outcome
  • Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/23 diseases for BBS1 (see all 23):    About MalaCards
    bardet-biedl syndrome 1    bbs1-related bardet-biedl syndrome    bbs10-related bardet-biedl syndrome    mckusick-kaufman syndrome
    asphyxiating thoracic dystrophy    bardet-biedl syndrome    senior-loken syndrome    meckel syndrome
    tetralogy of fallot    polydactyly    retinal disease    joubert syndrome
    pigmentary retinopathy    fundus dystrophy    retinitis pigmentosa    hypogonadism
    intellectual disability    retinal degeneration    retinitis    obesity

    5 diseases from the University of Copenhagen DISEASES database for BBS1:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy     Retinitis pigmentosa
    Intellectual disability

    BBS1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for BBS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bardet-biedl syndrome 97 4 18766993 (2), 12118255 (1), 17065520 (1)
    polydactyly 92.1 1 18766993 (1)
    retinitis pigmentosa 79.2 1 18766993 (1)
    obesity 65.4 1 12118255 (1)

    GeneTests: BBS1
    GeneReviews: BBS1
    Genetic Association Database (GAD): BBS1
    Human Genome Epidemiology (HuGE) Navigator: BBS1 (6 documents)

    Export disorders for BBS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BBS1 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with BBS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (PubMed id 12567324)1, 2, 3, 9 Badano J.L....Katsanis N. (2003)
    2. Identification of the gene (BBS1) most commonly involved in Bardet- Biedl syndrome, a complex human obesity syndrome. (PubMed id 12118255)1, 2, 9 Mykytyn K....Sheffield V.C. (2002)
    3. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    4. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)1, 4 Chung W.K....Tiwari H.K. (2009)
    5. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PubMed id 17574030)1, 2 Nachury M.V....Jackson P.K. (2007)
    6. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. (PubMed id 14993910)1, 4 Fan Y....Davidson W.S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Evaluation of complex inheritance involving the most common Bardet- Biedl syndrome locus (BBS1). (PubMed id 12524598)1, 2 Mykytyn K.... Sheffield V.C. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 582 HGNC: 966 AceView: DPP3andBBS1 Ensembl:ENSG00000174483 euGenes: HUgn582
    ECgene: BBS1 H-InvDB: BBS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BBS1 Pharmacogenomics, SNPs, Pathways
    Mutations of the BBS1 genehttp://www.retina-international.org/files/sci-news/bbs1mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BBS1 gene:
    Search GeneIP for patents involving BBS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for BBS1  
     OriGene qPCR primer pairs and template standards for BBS1   OriGene Protein Over-expression Lysate for BBS1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for BBS1  
     OriGene qSTAR qPCR primer pairs in human, mouse for BBS1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for BBS1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BBS1   OriGene Custom Protein Services for BBS1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BBS1
     QIAGEN SeqTarget long-range PCR primers for resequencing BBS1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1
     GenScript Custom Purified and Recombinant Proteins Services for BBS1 GenScript cDNA clones with any tag delivered in your preferred vector for BBS1
     GenScript Custom Assay Services for BBS1 GenScript Custom Superior Antibodies Services for BBS1
     GenScript Custom overexpressing Cell Line Services for BBS1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in BBS1 promoter
     Search Chromatin IP Primers for BBS1
     RT2 qPCR Primer Assay in human, mouse, rat BBS1
     GNC Network for BBS1
     SABiosciences PCR Arrays including human, mouse, rat BBS1
     Search Tocris compounds for BBS1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for BBS1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     BBS1 antibodies
     BBS1 proteins
     BBS1 lysates
     Antibodies for BBS1
     See all of Abcam's Antibodies, Kits and Proteins for BBS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for BBS1
     Antibodies for BBS1
     ELISAs for BBS1
     CLIAs for BBS1
     Search LifeMap BioReagents cell lines for BBS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1
     SwitchGear 3'UTR luciferase reporter plasmids for BBS1
     SwitchGear Promoter luciferase reporter plasmids for BBS1
     Search ThermoFisher Antibodies for BBS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for BBS1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BBS1
    Customized:
     lentivirus for stable overexpression of BBS1
     lentivirus expression plasmids for stable overexpression of BBS1
     adenovirus for overexpression of BBS1
     Search LSBio for Antibodies for BBS1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BBS1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4