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    Bbs10 Bardet-Biedl syndrome 10 [ Mus musculus (house mouse) ]

    Gene ID: 71769, updated on 4-Jan-2025

    Summary

    Official Symbol
    Bbs10provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 10provided by MGI
    Primary source
    MGI:MGI:1919019
    See related
    Ensembl:ENSMUSG00000035759 AllianceGenome:MGI:1919019
    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
    1300007O09Rik
    Summary
    Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within several processes, including neuronal action potential; retina morphogenesis in camera-type eye; and visual perception. Predicted to be located in cilium. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; pituitary gland; and respiratory system. Used to study Bardet-Biedl syndrome 10. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 10. Orthologous to human BBS10 (Bardet-Biedl syndrome 10). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in testis adult (RPKM 2.2), CNS E11.5 (RPKM 1.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See Bbs10 in Genome Data Viewer
    Location:
    10 D1; 10 58.46 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (111134540..111137597)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (111298679..111301736)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 8 Neighboring gene predicted gene, 17849 Neighboring gene microRNA 12180 Neighboring gene STARR-positive B cell enhancer ABC_E5180 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:110735920-110736029 Neighboring gene predicted gene, 40760 Neighboring gene predicted gene, 30095 Neighboring gene predicted gene, 40761

    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 (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within cell death PubMed 
    involved_in chaperone-mediated protein complex assembly  
    acts_upstream_of_or_within chaperone-mediated protein complex assembly  
    acts_upstream_of_or_within cone retinal bipolar cell differentiation PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process PubMed 
    acts_upstream_of_or_within neuronal action potential PubMed 
    involved_in non-motile cilium assembly  
    involved_in non-motile cilium assembly  
    acts_upstream_of_or_within photoreceptor cell differentiation PubMed 
    involved_in photoreceptor cell maintenance  
    involved_in photoreceptor cell maintenance  
    acts_upstream_of_or_within protein localization PubMed 
    acts_upstream_of_or_within regulation of protein-containing complex assembly  
    acts_upstream_of_or_within response to endoplasmic reticulum stress PubMed 
    acts_upstream_of_or_within response to light stimulus PubMed 
    acts_upstream_of_or_within retina development in camera-type eye PubMed 
    acts_upstream_of_or_within retinal cone cell differentiation PubMed 
    acts_upstream_of_or_within retinal rod cell differentiation PubMed 
    acts_upstream_of_or_within visual perception PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component  
    located_in cilium  

    General protein information

    Preferred Names
    BBSome complex assembly protein BBS10
    Names
    bardet-Biedl syndrome 10 protein homolog

    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_027914.1NP_082190.1  BBSome complex assembly protein BBS10

      Status: VALIDATED

      Source sequence(s)
      AK004937, BB855633, BE686432, BY122358, BY152247
      Consensus CDS
      CCDS48689.1
      UniProtKB/Swiss-Prot
      Q9DBI2
      Related
      ENSMUSP00000049387.4, ENSMUST00000040454.5
      Conserved Domains (3) summary
      pfam00118
      Location:13424
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02434
      Location:111209
      CNH; CNH domain
      cl02777
      Location:7111
      chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      111134540..111137597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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