Bbs1 Bardet-Biedl syndrome 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bbs1provided by MGI
Official Full Name: Bardet-Biedl syndrome 1provided by MGI
Primary source: MGI:MGI:1277215
See related: Ensembl:ENSMUSG00000006464 AllianceGenome:MGI:1277215
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: D19Ertd609e
Summary: Enables phosphoprotein binding activity and signaling receptor binding activity. Involved in regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including nervous system development; non-motile cilium assembly; and sensory perception of smell. Located in centriolar satellite and motile cilium. Part of BBSome. Is expressed in central nervous system; metanephros; and retina. Used to study Bardet-Biedl syndrome 1 and obesity. 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, Apr 2022]
Expression: Broad expression in frontal lobe adult (RPKM 5.9), cortex adult (RPKM 5.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.14 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (4936906..4956681, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (4886878..4906653, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Title: De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses.
Title: T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses.
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.
Title: Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.
Endothelial BBSome is essential for vascular, metabolic, and retinal functions.
Title: Endothelial BBSome is essential for vascular, metabolic, and retinal functions.
BBSome ablation in SF1 neurons causes obesity without comorbidities.
Title: BBSome ablation in SF1 neurons causes obesity without comorbidities.
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.
We demonstrate that obesity in mice lacking the Bbs1 gene in POMC neurons is associated with hyperphagia.
Title: The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors.
BBS1 protein plays a role in energy homeostasis by mediating the transport of the leptin receptor to the plasma membrane.
Title: The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.
Bbs1, Bbs2, and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
Title: Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.
Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1.
Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

C86324 (e-PCR)
- UniSTS:209424

AW821961 (e-PCR)
- UniSTS:209426

NoName (e-PCR)
- UniSTS:237864

D19Ertd609e (e-PCR), detects polymorphism
- UniSTS:167248

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI451249 (e-PCR)
- UniSTS:181179

Gene Ontology Provided by MGI

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	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
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	PubMed
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hormone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intraciliary retrograde transport	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	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 olfactory behavior	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 photoreceptor cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to cilium	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein localization to cilium	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium beat frequency involved in ciliary motility	IMP Inferred from Mutant Phenotype more info	PubMed
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 stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striatum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	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	IDA Inferred from Direct Assay more info	PubMed
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 cell projection	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 1 protein homolog

Names: Bardet-Biedl syndrome 1 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_001033128.3 → NP_001028300.1 Bardet-Biedl syndrome 1 protein homolog

See identical proteins and their annotated locations for NP_001028300.1

Status: VALIDATED

Source sequence(s)

AK045850, BC076577, BY063920

Consensus CDS

CCDS29442.1

UniProtKB/Swiss-Prot

Q3V3N7

UniProtKB/TrEMBL

A0A494B8X5

Related

ENSMUSP00000055321.7, ENSMUST00000053506.8

Conserved Domains (1) summary

pfam14779
Location:23 → 276

BBS1; Ciliary BBSome complex subunit 1

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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

4936906..4956681 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531788.4 → XP_006531851.1 Bardet-Biedl syndrome 1 protein homolog isoform X1

UniProtKB/TrEMBL

A0A494B8X5

Conserved Domains (1) summary

pfam14779
Location:1 → 246

BBS1; Ciliary BBSome complex subunit 1