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

Gene ID: 315484, updated on 27-Nov-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, Nov 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
    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

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

  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

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

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

  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

  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
    F1M285
    Related
    ENSRNOP00000076062.3, ENSRNOT00000093071.3

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

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

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

    UniProtKB/TrEMBL
    A0A1B0GWY0

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

    UniProtKB/TrEMBL
    A0A1B0GWY0

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

    UniProtKB/TrEMBL
    A0A1B0GWY0

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

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

    UniProtKB/TrEMBL
    A0A1B0GWV7

  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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