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    Bbs7 Bardet-Biedl syndrome 7 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361930, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bbs7provided by RGD
    Official Full Name
    Bardet-Biedl syndrome 7provided by RGD
    Primary source
    RGD:1309264
    See related
    EnsemblRapid:ENSRNOG00000015816 AllianceGenome:RGD:1309264
    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. Predicted to be involved in several processes, including cilium assembly; fat cell differentiation; and intracellular transport. Predicted to act upstream of or within several processes, including positive regulation of proteasomal ubiquitin-dependent protein catabolic process; primary palate development; and smoothened signaling pathway. Predicted to be located in several cellular components, including centrosome; ciliary membrane; and photoreceptor outer segment. Predicted to be part of BBSome. Predicted to be active in cytoskeleton; membrane; and neuron projection. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 79.1), Kidney (RPKM 65.6) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Bbs7 in Genome Data Viewer
    Location:
    2q25
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (121362884..121402473, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (119434760..119474665, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (123283402..123322991, complement)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene exosome component 9 Neighboring gene cyclin A2 Neighboring gene transient receptor potential cation channel, subfamily C, member 3 Neighboring gene ribosomal protein L7, pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • 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

    General gene information

    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
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    acts_upstream_of_or_within brain development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within eye development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within limb development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within primary palate development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within smoothened signaling pathway 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
     
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    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
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 7 protein

    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_001012180.1NP_001012180.1  Bardet-Biedl syndrome 7 protein

      See identical proteins and their annotated locations for NP_001012180.1

      Status: PROVISIONAL

      Source sequence(s)
      BC081968
      UniProtKB/TrEMBL
      A0A8I6G5H8, Q66H90
      Related
      ENSRNOP00000021453.6, ENSRNOT00000021453.8
      Conserved Domains (1) summary
      cl24051
      Location:172268
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

    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_086020.1 Reference GRCr8

      Range
      121362884..121402473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)