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

    Gene ID: 72569, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 7.7), CNS E18 (RPKM 2.8) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance. Bales KL, et al. Invest Ophthalmol Vis Sci, 2020 Aug 3. PMID 32776140, Free PMC Article
    2. A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. Bentley-Ford MR, et al. Hum Mol Genet, 2021 Apr 26. PMID 33560420, Free PMC Article
    3. Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1. Smith TS, et al. Cell Mol Life Sci, 2013 Dec. PMID 23817741, Free PMC Article
    4. Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. Haq N, et al. PLoS Biol, 2019 Sep. PMID 31479441, Free PMC Article
    5. Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. Kretschmer V, et al. Invest Ophthalmol Vis Sci, 2019 Mar 1. PMID 30901771

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
      Title: A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
    2. BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.
      Title: BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.
    3. Findings suggest a role for Bardet-Biedl syndrome 5 (BBS5) in regulating light-dependent translocation of arrestin1 (Arr1).
      Title: Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    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

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    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)

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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.

    mRNA and Protein(s)

    1. NM_001362706.1 → NP_001349635.1  BBSome complex member BBS5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK006743, BE950385
      Conserved Domains (1) summary
      pfam07289
      Location:1 → 204
      BBL5; Bardet-Biedl syndrome 5 protein

    2. NM_028284.3 → NP_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:158 → 212
      DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
      pfam07289
      Location:7 → 339
      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_036162606.1 → XP_036018499.1  Bardet-Biedl syndrome 5 protein homolog isoform X1

      Conserved Domains (1) summary
      pfam07289
      Location:88 → 287
      BBL5; Bardet-Biedl syndrome 5 protein

    RNA

    1. XR_004940743.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CZQ9.1 GenPept UniProtKB/Swiss-Prot:Q9CZQ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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