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

    Gene ID: 319845, updated on 31-Jan-2019

    Summary

    Official Symbol
    Bbs9provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 9 (human)provided by MGI
    Primary source
    MGI:MGI:2442833
    See related
    Ensembl:ENSMUSG00000035919
    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
    Expression
    Ubiquitous expression in testis adult (RPKM 9.5), CNS E18 (RPKM 5.2) and 26 other tissues See more
    Orthologs

    Genomic context

    See Bbs9 in Genome Data Viewer
    Location:
    9; 9 A3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (22475537..22888283)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (22280159..22692724)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9530077C05 gene Neighboring gene anillin, actin binding protein Neighboring gene ribosomal protein L7A pseudogene Neighboring gene retinitis pigmentosa 9 (human) Neighboring gene tubulin, beta 2B pseudogene Neighboring gene predicted gene, 39309 Neighboring gene predicted gene, 36685 Neighboring gene predicted gene, 36743

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BBSome ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
     
    cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein PTHB1
    Names
    EST 3159894
    bardet-Biedl syndrome 9 protein homolog
    parathyroid hormone-responsive B1 gene protein homolog

    NCBI Reference Sequences (RefSeq)

    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_001360258.1NP_001347187.1  protein PTHB1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443813
      PHTB1_C; PTHB1 C-terminus
    2. NM_001360259.1NP_001347188.1  protein PTHB1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093926, AC113106, AC113127, AC164882
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443818
      PHTB1_C; PTHB1 C-terminus
    3. NM_178415.1NP_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
      ENSMUSP00000116629.1, ENSMUST00000150395.7
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443813
      PHTB1_C; PTHB1 C-terminus
    4. NM_181316.4NP_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
      ENSMUSP00000043042.9, ENSMUST00000039798.15
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443813
      PHTB1_C; PTHB1 C-terminus

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      22475537..22888283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510421.3XP_006510484.1  protein PTHB1 isoform X5

      Conserved Domains (1) summary
      pfam14727
      Location:2417
      PHTB1_N; PTHB1 N-terminus
    2. XM_006510416.3XP_006510479.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510479.1

      UniProtKB/Swiss-Prot
      Q811G0
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443818
      PHTB1_C; PTHB1 C-terminus
    3. XM_006510417.3XP_006510480.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510480.1

      UniProtKB/Swiss-Prot
      Q811G0
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443818
      PHTB1_C; PTHB1 C-terminus
    4. XM_006510418.3XP_006510481.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_006510481.1

      UniProtKB/Swiss-Prot
      Q811G0
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443818
      PHTB1_C; PTHB1 C-terminus
    5. XM_006510415.3XP_006510478.1  protein PTHB1 isoform X1

      UniProtKB/Swiss-Prot
      Q811G0
      Related
      ENSMUSP00000120927.1, ENSMUST00000147405.7
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443818
      PHTB1_C; PTHB1 C-terminus
    6. XM_006510419.3XP_006510482.1  protein PTHB1 isoform X2

      UniProtKB/Swiss-Prot
      Q811G0
      Related
      ENSMUSP00000122058.1, ENSMUST00000147712.7
      Conserved Domains (2) summary
      pfam14727
      Location:1417
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:443813
      PHTB1_C; PTHB1 C-terminus
    7. XM_006510420.3XP_006510483.1  protein PTHB1 isoform X3

      Conserved Domains (2) summary
      pfam14727
      Location:2326
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:352727
      PHTB1_C; PTHB1 C-terminus
    8. XM_011242551.2XP_011240853.1  protein PTHB1 isoform X4

      Conserved Domains (2) summary
      pfam14727
      Location:1258
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:284659
      PHTB1_C; PTHB1 C-terminus
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