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    Bbs9 Bardet-Biedl syndrome 9 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315484, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bbs9provided by RGD
    Official Full Name
    Bardet-Biedl syndrome 9provided by RGD
    Primary source
    RGD:1308472
    See related
    EnsemblRapid:ENSRNOG00000015189 AllianceGenome:RGD:1308472
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1308472
    Summary
    Predicted to be involved in cilium assembly; fat cell differentiation; and protein localization to cilium. Predicted to be located in centrosome; ciliary membrane; and ciliary transition zone. Predicted to be part of BBSome. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 54.5), Kidney (RPKM 51.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bbs9 in Genome Data Viewer
    Location:
    8q13
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (29288846..29713889)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (21013865..21437934)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (23491929..24074524)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene anillin, actin binding protein Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene uncharacterized LOC134480149 Neighboring gene RP9, pre-mRNA splicing factor Neighboring gene U4 spliceosomal RNA Neighboring gene replication factor C subunit 4 pseudogene Neighboring gene uncharacterized LOC120094093

    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. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. Kang H, et al. Hum Reprod, 2008 Jun. PMID 18349106
    2. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Nishimura DY, et al. Am J Hum Genet, 2005 Dec. PMID 16380913, Free PMC Article
    3. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Justice CM, et al. Nat Genet, 2012 Dec. PMID 23160099, Free PMC Article
    4. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. Veleri S, et al. PLoS One, 2012. PMID 22479622, Free PMC Article
    5. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Zhang Y, et al. Hum Mol Genet, 2014 Jan 1. PMID 23943788, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    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 fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein PTHB1

    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_001427726.1 → NP_001414655.1  protein PTHB1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A0A1B0GWY0, A6JP05
      Related
      ENSRNOP00000076036.3, ENSRNOT00000092845.3

    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_086026.1 Reference GRCr8

      Range
      29288846..29713889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039082282.2 → XP_038938210.1  protein PTHB1 isoform X3

      UniProtKB/TrEMBL
      A0A1B0GWY0, A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 813
      PHTB1_C; PTHB1 C-terminus

    2. XM_039082284.2 → XP_038938212.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 808
      PHTB1_C; PTHB1 C-terminus

    3. XM_063265362.1 → XP_063121432.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    4. XM_063265368.1 → XP_063121438.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    5. XM_039082279.2 → XP_038938207.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus

    6. XM_063265354.1 → XP_063121424.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05

    7. XM_063265357.1 → XP_063121427.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05

    8. XM_063265355.1 → XP_063121425.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05

    9. XM_039082272.2 → XP_038938200.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus

    10. XM_039082277.2 → XP_038938205.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus

    11. XM_063265356.1 → XP_063121426.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05

    12. XM_039082270.2 → XP_038938198.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus

    13. XM_039082271.2 → XP_038938199.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus

    14. XM_063265358.1 → XP_063121428.1  protein PTHB1 isoform X2

      UniProtKB/TrEMBL
      A6JP05, F1M285
      Related
      ENSRNOP00000076062.3, ENSRNOT00000093071.3

    15. XM_063265365.1 → XP_063121435.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    16. XM_063265371.1 → XP_063121441.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    17. XM_063265364.1 → XP_063121434.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05
      Related
      ENSRNOP00000020481.9, ENSRNOT00000020481.9

    18. XM_063265361.1 → XP_063121431.1  protein PTHB1 isoform X3

      UniProtKB/TrEMBL
      A0A1B0GWY0, A6JP05

    19. XM_063265359.1 → XP_063121429.1  protein PTHB1 isoform X3

      UniProtKB/TrEMBL
      A0A1B0GWY0, A6JP05

    20. XM_063265367.1 → XP_063121437.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    21. XM_063265360.1 → XP_063121430.1  protein PTHB1 isoform X3

      UniProtKB/TrEMBL
      A0A1B0GWY0, A6JP05

    22. XM_063265370.1 → XP_063121440.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    23. XM_063265366.1 → XP_063121436.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    24. XM_063265363.1 → XP_063121433.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    25. XM_063265369.1 → XP_063121439.1  protein PTHB1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GWV7, A6JP05

    26. XM_039082280.2 → XP_038938208.1  protein PTHB1 isoform X1

      UniProtKB/TrEMBL
      A6JP05
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 455
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:478 → 851
      PHTB1_C; PTHB1 C-terminus
    Nucleotide Protein Strain
    Heading Accession and Version

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