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    Bbs1 Bardet-Biedl syndrome 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309156, updated on 2-Nov-2024

    Summary

    Official Symbol
    Bbs1provided by RGD
    Official Full Name
    Bardet-Biedl syndrome 1provided by RGD
    Primary source
    RGD:1307581
    See related
    EnsemblRapid:ENSRNOG00000019832 AllianceGenome:RGD:1307581
    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; phosphoprotein binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including non-motile cilium assembly; photoreceptor cell maintenance; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within several processes, including Golgi to plasma membrane protein transport; nervous system development; and olfactory behavior. Predicted to be located in centriolar satellite; ciliary membrane; and motile cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Testes (RPKM 98.5), Kidney (RPKM 45.8) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bbs1 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (211614195..211633504, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (202184812..202204118, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (220146084..220165545, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene actinin alpha 3 Neighboring gene zinc finger, DHHC-type containing 24 Neighboring gene uncharacterized LOC120099977 Neighboring gene dipeptidylpeptidase 3 Neighboring gene pellino E3 ubiquitin protein ligase family member 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages 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

    Markers

    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
     
    enables patched binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables patched binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables smoothened binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables smoothened binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within Golgi to plasma membrane protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult behavior ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    acts_upstream_of_or_within brain morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cartilage development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cerebral cortex development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within dendrite 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 fertilization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within hippocampus development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within hormone metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neural precursor cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within olfactory behavior ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within photoreceptor cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cilium beat frequency involved in ciliary motility ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within retina homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within sensory perception of smell ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within striatum development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ventricular system development 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 centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 1 protein
    Names
    Bardet-Biedl syndrome 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001107569.1NP_001101039.1  Bardet-Biedl syndrome 1 protein

      See identical proteins and their annotated locations for NP_001101039.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473953
      UniProtKB/TrEMBL
      A0A8I5ZVJ8, A6HZ05, D4A4U2
      Related
      ENSRNOP00000082124.2, ENSRNOT00000111822.2
      Conserved Domains (1) summary
      pfam14779
      Location:24277
      BBS1; Ciliary BBSome complex subunit 1

    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_086019.1 Reference GRCr8

      Range
      211614195..211633504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008760137.4XP_008758359.1  Bardet-Biedl syndrome 1 protein isoform X2

      UniProtKB/TrEMBL
      A0A8I5ZVJ8, A0A8I6A032
      Related
      ENSRNOP00000085404.1, ENSRNOT00000097583.2
      Conserved Domains (1) summary
      pfam14779
      Location:24277
      BBS1; Ciliary BBSome complex subunit 1
    2. XM_039079420.2XP_038935348.1  Bardet-Biedl syndrome 1 protein isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZVJ8
      Conserved Domains (1) summary
      pfam14779
      Location:1246
      BBS1; Ciliary BBSome complex subunit 1