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Bbs5 Bardet-Biedl syndrome 5 [ Rattus norvegicus (Norway rat) ]

Gene ID: 362142, updated on 3-Apr-2024

Summary

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Official Symbol
Bbs5provided by RGD
Official Full Name
Bardet-Biedl syndrome 5provided by RGD
Primary source
RGD:1310718
See related
Ensembl:ENSRNOG00000007127 AllianceGenome:RGD:1310718
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 and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Predicted to be located in axoneme and centriolar satellite. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Kidney (RPKM 66.3), Brain (RPKM 63.8) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Bbs5 in Genome Data Viewer
Location:
3q21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (74818104..74839658)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (54410429..54431831)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (55886695..55907717)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene cofilin 1, pseudogene 10 Neighboring gene uncharacterized LOC108350390 Neighboring gene uncharacterized LOC134486100 Neighboring gene kelch-like family member 41 Neighboring gene FAST kinase domains 1

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. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li JB, et al. Cell, 2004 May 14. PMID 15137946
  2. Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Karlstetter M, et al. Hum Mol Genet, 2014 Oct 1. PMID 24833722
  3. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Jin H, et al. Cell, 2010 Jun 25. PMID 20603001, 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. Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. Gascue C, et al. J Cell Sci, 2012 Jan 15. PMID 22302990, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

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 phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate binding ISO
Inferred from Sequence Orthology
more info
  
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 intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 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 ISO
Inferred from Sequence Orthology
more info
  
located_in axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in centriolar satellite 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
  
located_in cilium ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
Bardet-Biedl syndrome 5 protein
Names
Bardet-Biedl syndrome 5 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_001108583.2 → NP_001102053.1  Bardet-Biedl syndrome 5 protein

    See identical proteins and their annotated locations for NP_001102053.1

    Status: PROVISIONAL

    Source sequence(s)
    BC167024
    UniProtKB/TrEMBL
    A0A8I6GGA2, A6HM08, B2RZ48, F7FFN7
    Related
    ENSRNOP00000009396.4, ENSRNOT00000009396.6
    Conserved Domains (1) summary
    pfam07289
    Location:7 → 339
    BBL5; Bardet-Biedl syndrome 5 protein

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_086021.1 Reference GRCr8

    Range
    74818104..74839658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039105400.2 → XP_038961328.2  Bardet-Biedl syndrome 5 protein isoform X1

  2. XM_039105402.2 → XP_038961330.2  Bardet-Biedl syndrome 5 protein isoform X2

  3. XM_039105406.2 → XP_038961334.1  Bardet-Biedl syndrome 5 protein isoform X4

    Conserved Domains (1) summary
    pfam07289
    Location:4 → 169
    BBL5; Bardet-Biedl syndrome 5 protein

  4. XM_039105404.2 → XP_038961332.1  Bardet-Biedl syndrome 5 protein isoform X3

    UniProtKB/TrEMBL
    A0A8I5ZQX5, A0A8I6GGA2
    Related
    ENSRNOP00000081100.1
    Conserved Domains (1) summary
    pfam07289
    Location:7 → 317
    BBL5; Bardet-Biedl syndrome 5 protein
Nucleotide Protein Strain
Heading Accession and Version

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