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

    Gene ID: 72569, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bbs5provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 5provided by MGI
    Primary source
    MGI:MGI:1919819
    See related
    Ensembl:ENSMUSG00000063145 AllianceGenome:MGI:1919819
    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
    Summary
    Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of BBSome. Is expressed in brain; spinal cord; and testis. Used to study Bardet-Biedl syndrome 5. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 7.7), CNS E18 (RPKM 2.8) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bbs5 in Genome Data Viewer
    Location:
    2 C2; 2 40.91 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (69477193..69497915)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (69646848..69667571)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 36393 Neighboring gene dehydrogenase/reductase 9 Neighboring gene STARR-seq mESC enhancer starr_04734 Neighboring gene STARR-seq mESC enhancer starr_04735 Neighboring gene low density lipoprotein receptor-related protein 2 Neighboring gene STARR-seq mESC enhancer starr_04736 Neighboring gene STARR-seq mESC enhancer starr_04740 Neighboring gene STARR-seq mESC enhancer starr_04741 Neighboring gene STARR-positive B cell enhancer ABC_E7822 Neighboring gene STARR-positive B cell enhancer ABC_E5928 Neighboring gene kelch-like 41 Neighboring gene STARR-seq mESC enhancer starr_04743 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BBSome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    BBSome complex member BBS5; Bardet-Biedl syndrome 5 protein homolog
    Names
    bardet-Biedl syndrome 5 protein homolog
    novel DUF1448 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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  BBSome complex member BBS5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK006743, BE950385
      Conserved Domains (1) summary
      pfam07289
      Location:1204
      BBL5; Bardet-Biedl syndrome 5 protein
    2. NM_028284.3NP_082560.1  BBSome complex member BBS5 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
      A2AUC7, Q9CZQ9
      UniProtKB/TrEMBL
      A2AUC6
      Related
      ENSMUSP00000074494.3, ENSMUST00000074963.9
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      69477193..69497915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162606.1XP_036018499.1  Bardet-Biedl syndrome 5 protein homolog isoform X1

      Conserved Domains (1) summary
      pfam07289
      Location:88287
      BBL5; Bardet-Biedl syndrome 5 protein

    RNA

    1. XR_004940743.1 RNA Sequence