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Bbs1 - Bardet-Biedl syndrome 1 (human) Gene

Also Known as D19Ertd609e

Species: Mus musculus

Gene Type: protein coding

Gene ID: 52028

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]

Bbs1 Products (1)

mRNA	Protein	Name
NM_001033128.3	NP_001028300.1	Bardet-Biedl syndrome 1 protein homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	21471969	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	17574030	MGI
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	19150989	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within adult behavior	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within brain morphogenesis	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within cartilage development	IMP IMP: Inferred from mutant phenotype	19195025	MGI
acts upstream of or within cellular lipid metabolic process	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within cerebral cortex development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	18032602	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	18299575	MGI
acts upstream of or within dendrite development	IMP IMP: Inferred from mutant phenotype	15322545	MGI
involved in fat cell differentiation	IEP IEP: Inferred from expression pattern	17379567	MGI
acts upstream of or within fertilization	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within hippocampus development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within hormone metabolic process	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within neural precursor cell proliferation	IMP IMP: Inferred from mutant phenotype	23160237	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	21471969	MGI
acts upstream of or within non-motile cilium assembly	IGI IGI: Inferred from genetic interaction	16170314	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within olfactory behavior	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within photoreceptor cell morphogenesis	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within protein localization	IMP IMP: Inferred from mutant phenotype	22228099	MGI
involved in regulation of cilium beat frequency involved in ciliary motility	IMP IMP: Inferred from mutant phenotype	18299575	MGI
acts upstream of or within response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	31302159	MGI
acts upstream of or within retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	31302159	MGI
acts upstream of or within retina homeostasis	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within sensory perception of smell	IMP IMP: Inferred from mutant phenotype	15322545	MGI
acts upstream of or within striatum development	IMP IMP: Inferred from mutant phenotype	18032602	MGI
acts upstream of or within ventricular system development	IMP IMP: Inferred from mutant phenotype	23160237	MGI

Cellular Component GO Annotation	Evidence	References	Source
part of BBSome	IDA IDA: Inferred from direct assay	20080638	MGI
located in centriolar satellite	IDA IDA: Inferred from direct assay	27979967	MGI
located in centrosome	IDA IDA: Inferred from direct assay	21471969	MGI
located in cilium	IDA IDA: Inferred from direct assay	27979967	MGI
located in motile cilium	IMP IMP: Inferred from mutant phenotype	18299575	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
Bardet-Biedl syndrome 1 protein homolog	Bardet-Biedl syndrome 1 homolog

Bbs1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Bbs1	Q3V3N7	Bbs4	Mus musculus	Q8C1Z7	GMS	20080638
Intra	Bbs1	Q3V3N7	Bbs4	Mus musculus	Q8C1Z7	GMS	17574030
Intra	Bbs1	Q3V3N7	Bbs4	Mus musculus	Q8C1Z7	Density Sedimentation	22139371
Intra	Bbs1	Q3V3N7	Bbs4	Mus musculus	Q8C1Z7	Density Sedimentation	22500027

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01384	BBS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Bbs1	NCBI	NCBI:582