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    Bbs10 Bardet-Biedl syndrome 10 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 500832, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Bbs10provided by RGD
    Official Full Name
    Bardet-Biedl syndrome 10provided by RGD
    Primary source
    RGD:1560748
    See related
    EnsemblRapid:ENSRNOG00000026913 AllianceGenome:RGD:1560748
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1560748
    Summary
    Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in chaperone-mediated protein complex assembly; non-motile cilium assembly; and photoreceptor cell maintenance. Predicted to act upstream of or within several processes, including negative regulation of neuron apoptotic process; retina morphogenesis in camera-type eye; and visual perception. 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, Nov 2024]
    Expression
    Biased expression in Kidney (RPKM 59.1), Lung (RPKM 58.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bbs10 in Genome Data Viewer
    Location:
    7q22
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (48637324..48640395)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (46751028..46754132)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (54030229..54034354)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 8 Neighboring gene uncharacterized LOC120093586 Neighboring gene uncharacterized LOC134479686 Neighboring gene eukaryotic translation initiation factor 5, pseudogene 8 Neighboring gene uncharacterized LOC102548498 Neighboring gene uncharacterized LOC134479687 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene nucleosome assembly protein 1-like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Lindstrand A, et al. Am J Hum Genet, 2014 May 1. PMID 24746959, Free PMC Article
    2. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Gerth C, et al. Vision Res, 2008 Feb. PMID 17980398, Free PMC Article
    3. Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. Gascue C, et al. J Cell Sci, 2012 Jan 15. PMID 22302990, Free PMC Article
    4. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. Zhang Q, et al. J Biol Chem, 2012 Jun 8. PMID 22500027, Free PMC Article
    5. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Seo S, et al. Proc Natl Acad Sci U S A, 2010 Jan 26. PMID 20080638, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within chaperone-mediated protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cone retinal bipolar cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuronal action potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within photoreceptor cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to light stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retinal cone cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retinal rod cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    Bardet-Biedl syndrome 10 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_001109286.1 → NP_001102756.1  Bardet-Biedl syndrome 10 protein

      See identical proteins and their annotated locations for NP_001102756.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473960
      UniProtKB/TrEMBL
      B1H296
      Related
      ENSRNOP00000037320.4, ENSRNOT00000039096.5
      Conserved Domains (3) summary
      pfam00118
      Location:13 → 424
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:7 → 94
      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 ...
      cl11394
      Location:589 → 673
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086025.1 Reference GRCr8

      Range
      48637324..48640395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006241323.5 → XP_006241385.1  Bardet-Biedl syndrome 10 protein isoform X1

      UniProtKB/TrEMBL
      F7EKF1
      Conserved Domains (3) summary
      pfam00118
      Location:13 → 395
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:1 → 64
      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 ...
      cl11394
      Location:560 → 644
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    Nucleotide Protein Strain
    Heading Accession and Version

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