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    Bbs5 Bardet-Biedl syndrome 5 (human) [ Mus musculus (house mouse) ]

    Gene ID: 72569, updated on 31-Jan-2019

    Summary

    Official Symbol
    Bbs5provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 5 (human)provided by MGI
    Primary source
    MGI:MGI:1919819
    See related
    Ensembl:ENSMUSG00000063145
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1700049I01Rik; 2700023J09Rik
    Expression
    Biased expression in testis adult (RPKM 7.7), CNS E18 (RPKM 2.8) and 13 other tissues See more
    Orthologs

    Genomic context

    See Bbs5 in Genome Data Viewer
    Location:
    2; 2 C2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (69646730..69667569)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (69485312..69505626)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36393 Neighboring gene dehydrogenase/reductase (SDR family) member 9 Neighboring gene low density lipoprotein receptor-related protein 2 Neighboring gene kelch-like 41 Neighboring gene FAST kinase domains 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3) 

    Pathways from BioSystems

    General gene information

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA polymerase II repressing transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BBSome ISO
    Inferred from Sequence Orthology
    more info
     
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 5 protein homolog
    Names
    novel DUF1448 protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001362706.1NP_001349635.1  Bardet-Biedl syndrome 5 protein homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK006743, BE950385
      Conserved Domains (1) summary
      cl26906
      Location:1204
      BBL5; Bardet-Biedl syndrome 5 protein
    2. NM_028284.3NP_082560.1  Bardet-Biedl syndrome 5 protein homolog isoform 1

      See identical proteins and their annotated locations for NP_082560.1

      Status: VALIDATED

      Source sequence(s)
      AL929083
      Consensus CDS
      CCDS16094.1
      UniProtKB/Swiss-Prot
      Q9CZQ9
      Related
      ENSMUSP00000074494.2, ENSMUST00000074963.8
      Conserved Domains (2) summary
      smart00683
      Location:158212
      DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
      pfam07289
      Location:7339
      DUF1448; Protein of unknown function (DUF1448)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      69646730..69667569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500244.3XP_006500307.1  Bardet-Biedl syndrome 5 protein homolog isoform X1

      Conserved Domains (2) summary
      smart00683
      Location:239287
      DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
      pfam07289
      Location:88287
      DUF1448; Protein of unknown function (DUF1448)
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