U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bbs10 Bardet-Biedl syndrome 10 [ Mus musculus (house mouse) ]

Gene ID: 71769, updated on 19-Jun-2024

Summary

Official Symbol
Bbs10provided by MGI
Official Full Name
Bardet-Biedl syndrome 10provided by MGI
Primary source
MGI:MGI:1919019
See related
Ensembl:ENSMUSG00000035759 AllianceGenome:MGI:1919019
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
1300007O09Rik
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. Predicted to be located in cell projection. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; pituitary gland; and respiratory system. Used to study Bardet-Biedl syndrome 10. 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
Ubiquitous expression in testis adult (RPKM 2.2), CNS E11.5 (RPKM 1.5) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Bbs10 in Genome Data Viewer
Location:
10 D1; 10 58.46 cM
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (111134540..111137597)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (111298679..111301736)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 8 Neighboring gene predicted gene, 17849 Neighboring gene microRNA 12180 Neighboring gene STARR-positive B cell enhancer ABC_E5180 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:110735920-110736029 Neighboring gene predicted gene, 40760 Neighboring gene predicted gene, 30095 Neighboring gene predicted gene, 40761

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
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 cone retinal bipolar cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in non-motile cilium assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within photoreceptor cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in photoreceptor cell maintenance ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal cone cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal rod cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 10 protein 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_027914.1NP_082190.1  Bardet-Biedl syndrome 10 protein homolog

    See identical proteins and their annotated locations for NP_082190.1

    Status: VALIDATED

    Source sequence(s)
    AK004937, BB855633, BE686432, BY122358, BY152247
    Consensus CDS
    CCDS48689.1
    UniProtKB/Swiss-Prot
    Q9DBI2
    Related
    ENSMUSP00000049387.4, ENSMUST00000040454.5
    Conserved Domains (3) summary
    pfam00118
    Location:13424
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02434
    Location:111209
    CNH; CNH domain
    cl02777
    Location:7111
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    111134540..111137597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)