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    Bbs9 Bardet-Biedl syndrome 9 [ Mus musculus (house mouse) ]

    Gene ID: 319845, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Bbs9provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 9provided by MGI
    Primary source
    MGI:MGI:2442833
    See related
    Ensembl:ENSMUSG00000035919 AllianceGenome:MGI:2442833
    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
    E130103I17Rik
    Summary
    Involved in cilium assembly. Acts upstream of or within fat cell differentiation. Located in membrane. Part of BBSome. Is expressed in midgut; nervous system; sensory organ; and spleen. 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, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 9.5), CNS E18 (RPKM 5.2) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 A3; 9 9.17 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (22386819..22799579)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (22475559..22888283)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23549 Neighboring gene STARR-positive B cell enhancer ABC_E2286 Neighboring gene anillin, actin binding protein Neighboring gene STARR-seq mESC enhancer starr_23553 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene STARR-seq mESC enhancer starr_23554 Neighboring gene STARR-positive B cell enhancer ABC_E5056 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene retinitis pigmentosa 9 (human) Neighboring gene STARR-seq mESC enhancer starr_23558 Neighboring gene STARR-positive B cell enhancer mm9_chr9:22454080-22454380 Neighboring gene tubulin, beta 2B pseudogene Neighboring gene STARR-seq mESC enhancer starr_23559 Neighboring gene STARR-seq mESC enhancer starr_23562 Neighboring gene predicted gene, 39309 Neighboring gene STARR-seq mESC enhancer starr_23563 Neighboring gene STARR-seq mESC enhancer starr_23564 Neighboring gene STARR-seq mESC enhancer starr_23565 Neighboring gene VISTA enhancer mm1296 Neighboring gene STARR-seq mESC enhancer starr_23566 Neighboring gene predicted gene, 36685 Neighboring gene STARR-seq mESC enhancer starr_23567 Neighboring gene predicted gene, 36743 Neighboring gene VISTA enhancer mm1696

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. Veleri S, et al. PLoS One, 2012. PMID 22479622, Free PMC Article
    2. Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Thomas JW, et al. Genome Res, 2000 May. PMID 10810084, Free PMC Article
    3. IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment. Eguether T, et al. Dev Cell, 2014 Nov 10. PMID 25446516, 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. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Forti E, et al. Int J Biochem Cell Biol, 2007. PMID 17379567

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of Bbs9 in mouse IMCD3 cells results in the absence of cilia.
      Title: Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    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
    		 PubMed 
    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
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein PTHB1
    Names
    EST 3159894
    bardet-Biedl syndrome 9 protein homolog
    parathyroid hormone-responsive B1 gene protein 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_001360258.1 → NP_001347187.1  protein PTHB1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Consensus CDS
      CCDS22928.1
      Related
      ENSMUSP00000122058.2, ENSMUST00000147712.8
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 808
      PHTB1_C; PTHB1 C-terminus

    2. NM_001360259.1 → NP_001347188.1  protein PTHB1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Consensus CDS
      CCDS90520.1
      UniProtKB/Swiss-Prot
      P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
      Related
      ENSMUSP00000120927.2, ENSMUST00000147405.8
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443 → 818
      PHTB1_C; PTHB1 C-terminus

    3. NM_178415.1 → NP_848502.1  protein PTHB1 isoform 1

      See identical proteins and their annotated locations for NP_848502.1

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Consensus CDS
      CCDS22928.1
      UniProtKB/Swiss-Prot
      Q811G0
      Related
      ENSMUSP00000116629.2, ENSMUST00000150395.8
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 808
      PHTB1_C; PTHB1 C-terminus

    4. NM_181316.4 → NP_851833.2  protein PTHB1 isoform 1

      See identical proteins and their annotated locations for NP_851833.2

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Consensus CDS
      CCDS22928.1
      UniProtKB/Swiss-Prot
      Q811G0
      Related
      ENSMUSP00000043042.10, ENSMUST00000039798.16
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 808
      PHTB1_C; PTHB1 C-terminus

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      22386819..22799579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510416.5 → XP_006510479.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510479.1

      UniProtKB/Swiss-Prot
      P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443 → 818
      PHTB1_C; PTHB1 C-terminus

    2. XM_006510418.5 → XP_006510481.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510481.1

      UniProtKB/Swiss-Prot
      P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443 → 818
      PHTB1_C; PTHB1 C-terminus

    3. XM_006510417.4 → XP_006510480.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510480.1

      UniProtKB/Swiss-Prot
      P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443 → 818
      PHTB1_C; PTHB1 C-terminus

    4. XM_006510421.4 → XP_006510484.1  protein PTHB1 isoform X5

      Conserved Domains (1) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus

    5. XM_036155054.1 → XP_036010947.1  protein PTHB1 isoform X2

      Conserved Domains (2) summary
      pfam14727
      Location:1 → 417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:440 → 808
      PHTB1_C; PTHB1 C-terminus

    6. XM_006510420.5 → XP_006510483.1  protein PTHB1 isoform X3

      Conserved Domains (2) summary
      pfam14727
      Location:1 → 326
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:352 → 727
      PHTB1_C; PTHB1 C-terminus

    7. XM_011242551.2 → XP_011240853.1  protein PTHB1 isoform X4

      Conserved Domains (2) summary
      pfam14727
      Location:1 → 258
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:284 → 659
      PHTB1_C; PTHB1 C-terminus

    8. XM_036155055.1 → XP_036010948.1  protein PTHB1 isoform X6

      Conserved Domains (1) summary
      pfam14728
      Location:1 → 334
      PHTB1_C; PTHB1 C-terminus

    9. XM_036155056.1 → XP_036010949.1  protein PTHB1 isoform X7

      Conserved Domains (1) summary
      pfam14728
      Location:1 → 329
      PHTB1_C; PTHB1 C-terminus
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q811G0.2 GenPept UniProtKB/Swiss-Prot:Q811G0

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