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BBS1 Gene

protein-coding   GIFtS: 52
GCID: GC11P066276

Bardet-Biedl Syndrome 1

  See BBS1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bbs1-related bardet-biedl syndrome, and bardet-biedl syndrome 1. GO annotations related to this gene include smoothened binding and patched binding. An important paralog of this gene is ENSG00000256349.

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
proteins to the primary cilia. 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. The BBSome complex, together with the LTZL1,
controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
proper BBSome complex assembly and its ciliary localization

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   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 Chromatin IP Primers for BBS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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/TTC8, BBS9 and BBIP10. Interacts
with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BBS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    BBS1 Human Recombinant Protein Products:

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    Novus Biologicals BBS1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BBS1

     
    Search eBioscience for Proteins for BBS1 

    BBS1 Antibody Products:

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    Search eBioscience for ELISAs for BBS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR011047 Quinonprotein_ADH-like_supfam
     IPR028784 BBS1

    Graphical View of Domain Structure for InterPro Entry Q8NFJ9

    ProtoNet protein and cluster: Q8NFJ9


    Find genes that share domains with BBS1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BBS1_HUMAN, Q8NFJ9
    Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
    proteins to the primary cilia. 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. The BBSome complex, together with the LTZL1,
    controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
    proper BBSome complex assembly and its ciliary localization

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001103RNA polymerase II repressing transcription factor binding IPI--
    GO:0005113patched binding IPI--
    GO:0005119smoothened binding IPI--
    GO:0005515protein binding IPI16327777
         
    Find genes that share ontologies with BBS1           About GenesLikeMe


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

    Find genes that share phenotypes with BBS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS1
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       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
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    5 qRT-PCR 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
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    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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BBS1_HUMAN, Q8NFJ9: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    cytosol3

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with BBS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including BBS1: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BBS1

    Selected 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): Selected biological process terms (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

    Find genes that share ontologies with BBS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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:
         
    Block miRNA regulation of human, mouse, rat BBS1 using miScript Target Protectors
    5 qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for BBS1
    Predesigned siRNA for gene silencing in human, mouse, rat BBS1
    Clone
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for BBS1
    OriGene qSTAR qPCR primer pairs in human, mouse for BBS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS1
      QuantiTect SYBR Green Assays in human, mouse, rat BBS1
      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 

    Selected AceView cDNA sequences (see all 528):

    AA186601 Z39189 AA376205 CD367736 BQ422980 BI524266 AI052276 AI282614 
    AA229724 CO400890 BI260162 BU688478 AK095638 BM834771 BU072804 CA778353 
    BM927031 BQ636867 AI367437 CA488887 CF265121 BI517907 AI078191 BM978147 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    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

    BBS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBS1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including BBS1: 
              Primary Cilia in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BBS1
    OriGene qSTAR qPCR primer pairs in human, mouse for BBS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS1
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BBS1 gene from Selected species (see all 15)    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 87.47(n)1
    92.59(a)1
      19 (4.14 cM)5
    520281  NM_001033128.31  NP_001028300.11 
     48868985 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL344045.1(95887-126444)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bbs11 Bardet-Biedl syndrome 1 64.76(n)
    67.71(a)
      100125212  NM_001122804.1  NP_001116276.1 
    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 47.13(n)
    32.26(a)
      38780  NM_139823.2  NP_648080.1 
    worm
    (Caenorhabditis elegans)
    Secernentea bbs-11 bbs-1 43.89(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)
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    Paralogs for BBS1 gene
    ENSG000002563492  
    1 SIMAP similar gene for BBS1 using alignment to 11 protein entries:     BBS1_HUMAN (see all proteins):
    DKFZp313N0733

    Find genes that share paralogs with BBS1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BBS1 (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
    ----------
    rs2006889851,2,,4
    Bardet-Biedl syndrome 1 (BBS1)4 --66203320(+) GAATCA/GACCCC 2 N D mis10--------
    rs355207561,2,,4
    C,FBardet-Biedl syndrome 1 (BBS1)4 pathogenic166207496(+) ACCCCG/AAGGCC 2 /K /E mis19Minor allele frequency- A:0.03NA NS EA WA EU 6487
    rs1136243561,2,,4
    C,FBardet-Biedl syndrome 1 (BBS1)4 pathogenic166213951(+) CATCAT/GGACCA 2 /R /M mis12Minor allele frequency- G:0.00NA 4554
    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--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for BBS1 (see all 24):    
    About MalaCards
    bbs1-related bardet-biedl syndrome    bardet-biedl syndrome 1    mckusick-kaufman syndrome    bardet-biedl syndrome 10
    bardet-biedl syndrome 1, modifier of    bardet-biedl syndrome 15    bardet-biedl syndrome 12    bardet-biedl syndrome 3
    bardet-biedl syndrome 2    bardet-biedl syndrome 14, modifier of    bardet-biedl syndrome 11    bardet-biedl syndrome 8
    bardet-biedl syndrome 13    bardet-biedl syndrome 5    bardet-biedl syndrome 4    bardet-biedl syndrome 17
    bardet-biedl syndrome 9    bardet-biedl syndrome 19    bardet-biedl syndrome 7    bardet-biedl syndrome 6

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

    Find genes that share disorders with BBS1           About GenesLikeMe

    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)
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    PubMed articles for BBS1 gene, integrated from 10 sources (see all 49):
    (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. (Am. J. Hum. Genet. 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. (Nat. Genet. 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. (Ophthalmology 2011)
    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. (Hum. Hered. 2009)
    5. Novel interaction partners of Bardet-Biedl syndrome proteins. (PubMed id 18000879)1, 2 Oeffner F....Grzeschik K.H. (Cell Motil. Cytoskeleton 2008)
    6. 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. (Cell 2007)
    7. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L.... Katsanis N. (Nature 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. (PubMed id 14993910)1, 4 Fan Y....Davidson W.S. (Int. J. Obes. Relat. Metab. Disord. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 582 HGNC: 966 AceView: DPP3andBBS1 Ensembl:ENSG00000174483 euGenes: HUgn582
    ECgene: BBS1 H-InvDB: BBS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=BBS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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