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    Bbs5 Bardet-Biedl syndrome 5 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362142, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bbs5provided by RGD
    Official Full Name
    Bardet-Biedl syndrome 5provided by RGD
    Primary source
    RGD:1310718
    See related
    EnsemblRapid:ENSRNOG00000007127 AllianceGenome:RGD:1310718
    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
    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. Predicted to be located in axoneme; centriolar satellite; and ciliary membrane. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. 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 Kidney (RPKM 66.3), Brain (RPKM 63.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bbs5 in Genome Data Viewer
    Location:
    3q21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (74818104..74839658)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (54410429..54431831)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (55886695..55907717)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene cofilin 1, pseudogene 10 Neighboring gene uncharacterized LOC108350390 Neighboring gene uncharacterized LOC134486100 Neighboring gene kelch-like family member 41 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: 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. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li JB, et al. Cell, 2004 May 14. PMID 15137946
    2. Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Karlstetter M, et al. Hum Mol Genet, 2014 Oct 1. PMID 24833722
    3. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Jin H, et al. Cell, 2010 Jun 25. PMID 20603001, Free PMC Article
    4. DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. Zhang B, et al. J Biol Chem, 2017 Jan 27. PMID 27979967, Free PMC Article
    5. 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

    See all (12) 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
    		  
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    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_001108583.2 → NP_001102053.1  Bardet-Biedl syndrome 5 protein

      See identical proteins and their annotated locations for NP_001102053.1

      Status: PROVISIONAL

      Source sequence(s)
      BC167024
      UniProtKB/TrEMBL
      A0A8I6GGA2, A6HM08, B2RZ48, F7FFN7
      Related
      ENSRNOP00000009396.4, ENSRNOT00000009396.7
      Conserved Domains (1) summary
      pfam07289
      Location:7 → 339
      BBL5; Bardet-Biedl syndrome 5 protein

    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_086021.1 Reference GRCr8

      Range
      74818104..74839658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039105400.2 → XP_038961328.2  Bardet-Biedl syndrome 5 protein isoform X1

      UniProtKB/TrEMBL
      A0A8I6GGA2

    2. XM_039105402.2 → XP_038961330.2  Bardet-Biedl syndrome 5 protein isoform X2

      UniProtKB/TrEMBL
      A0A8I6GGA2

    3. XM_039105406.2 → XP_038961334.1  Bardet-Biedl syndrome 5 protein isoform X4

      Conserved Domains (1) summary
      pfam07289
      Location:4 → 169
      BBL5; Bardet-Biedl syndrome 5 protein

    4. XM_039105404.2 → XP_038961332.1  Bardet-Biedl syndrome 5 protein isoform X3

      UniProtKB/TrEMBL
      A0A8I5ZQX5, A0A8I6GGA2
      Related
      ENSRNOP00000081100.1, ENSRNOT00000098007.2
      Conserved Domains (1) summary
      pfam07289
      Location:7 → 317
      BBL5; Bardet-Biedl syndrome 5 protein
    Nucleotide Protein Strain
    Heading Accession and Version

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