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Bbs10 Bardet-Biedl syndrome 10 [ Rattus norvegicus (Norway rat) ]

Gene ID: 500832, updated on 25-Apr-2024

Summary

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Official Symbol
Bbs10provided by RGD
Official Full Name
Bardet-Biedl syndrome 10provided by RGD
Primary source
RGD:1560748
See related
Ensembl:ENSRNOG00000026913 AllianceGenome:RGD:1560748
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
Also known as
RGD1560748
Summary
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in chaperone-mediated protein complex assembly; non-motile cilium assembly; and photoreceptor cell maintenance. Predicted to act upstream of or within regulation of protein-containing complex assembly. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 10. Orthologous to human BBS10 (Bardet-Biedl syndrome 10). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Kidney (RPKM 59.1), Lung (RPKM 58.0) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Bbs10 in Genome Data Viewer
Location:
7q22
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (48637324..48640395)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (46751028..46754132)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (54030229..54034354)

Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 8 Neighboring gene uncharacterized LOC120093586 Neighboring gene uncharacterized LOC134479686 Neighboring gene eukaryotic translation initiation factor 5, pseudogene 8 Neighboring gene uncharacterized LOC102548498 Neighboring gene uncharacterized LOC134479687 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene nucleosome assembly protein 1-like 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. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Lindstrand A, et al. Am J Hum Genet, 2014 May 1. PMID 24746959, Free PMC Article
  2. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Gerth C, et al. Vision Res, 2008 Feb. PMID 17980398, Free PMC Article
  3. 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
  4. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. Zhang Q, et al. J Biol Chem, 2012 Jun 8. PMID 22500027, Free PMC Article
  5. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Seo S, et al. Proc Natl Acad Sci U S A, 2010 Jan 26. PMID 20080638, Free PMC Article

See all (8) 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
  
Process Evidence Code Pubs
involved_in chaperone-mediated protein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within chaperone-mediated protein complex assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of neuron apoptotic process 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 photoreceptor cell differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in photoreceptor cell maintenance ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein localization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of protein-containing complex assembly 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 response to light stimulus 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 retinal cone cell differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within retinal rod cell differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within visual perception ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
Bardet-Biedl syndrome 10 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_001109286.1 → NP_001102756.1  Bardet-Biedl syndrome 10 protein

    See identical proteins and their annotated locations for NP_001102756.1

    Status: PROVISIONAL

    Source sequence(s)
    CH473960
    UniProtKB/TrEMBL
    B1H296
    Conserved Domains (3) summary
    pfam00118
    Location:13 → 424
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:7 → 94
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
    cl11394
    Location:589 → 673
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

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_086025.1 Reference GRCr8

    Range
    48637324..48640395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006241323.5 → XP_006241385.1  Bardet-Biedl syndrome 10 protein isoform X1

    UniProtKB/TrEMBL
    F7EKF1
    Related
    ENSRNOP00000037320.3
    Conserved Domains (3) summary
    pfam00118
    Location:13 → 395
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:1 → 64
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
    cl11394
    Location:560 → 644
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
Nucleotide Protein Strain
Heading Accession and Version

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