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

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. Acts upstream of or within several processes, including neuronal action potential; retina morphogenesis in camera-type eye; and visual perception. Predicted to be located in cilium. 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, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 2.2), CNS E11.5 (RPKM 1.5) and 25 other tissues See more
Orthologs: human all
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Genomic context

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.
Title: Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
Title: Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein
Title: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
These findings confirm that FLJ23560 (BBS10) mutations are a significant cause of BBS.
Title: Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

General gene information

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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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell death	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
is_active_in cellular_component	ND No biological Data available more info
located_in cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BBSome complex assembly protein BBS10

Names: bardet-Biedl syndrome 10 protein 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)

NM_027914.1 → NP_082190.1 BBSome complex assembly protein BBS10

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:13 → 424

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02434
Location:111 → 209

CNH; CNH domain

cl02777
Location:7 → 111

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 ...