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    BBS1 Bardet-Biedl syndrome 1 [ Homo sapiens (human) ]

    Gene ID: 582, updated on 8-Jul-2021

    Summary

    Official Symbol
    BBS1provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 1provided by HGNC
    Primary source
    HGNC:HGNC:966
    See related
    Ensembl:ENSG00000174483 MIM:209901
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS2L2
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.8), kidney (RPKM 18.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BBS1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66510635..66533598)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66278106..66301069)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene pellino E3 ubiquitin protein ligase family member 3 Neighboring gene DPP3 divergent transcript Neighboring gene skeletal muscle cis-regulatory module in DPP3 intron Neighboring gene dipeptidyl peptidase 3 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene actinin alpha 3 Neighboring gene cathepsin F

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome Compare labs
    Bardet-Biedl syndrome 1
    MedGen: C2936862 OMIM: 209900 GeneReviews: Bardet-Biedl Syndrome Overview
    Compare labs
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DPP3

    Homology

    Clone Names

    • FLJ23590, MGC51114, MGC126183, MGC126184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables patched binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables patched binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables smoothened binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables smoothened binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Golgi to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 1 protein
    Names
    BBS2-like protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009093.1 RefSeqGene

      Range
      4988..27951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024649.5NP_078925.3  Bardet-Biedl syndrome 1 protein

      See identical proteins and their annotated locations for NP_078925.3

      Status: REVIEWED

      Source sequence(s)
      AP002748
      Consensus CDS
      CCDS8142.1
      UniProtKB/Swiss-Prot
      Q8NFJ9
      Related
      ENSP00000317469.7, ENST00000318312.12
      Conserved Domains (1) summary
      pfam14779
      Location:23276
      BBS1; Ciliary BBSome complex subunit 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      66510635..66533598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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