BBS1

BBS1
Identifiers
Aliases	BBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDs	OMIM: 209901; MGI: 1277215; HomoloGene: 11641; GeneCards: BBS1; OMA:BBS1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	66,533,613 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	4,956,656 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; left ovary; ; pituitary gland; ; right ovary; ; right lobe of thyroid gland; ; right hemisphere of cerebellum; ; body of uterus; ; anterior pituitary; ; left lobe of thyroid gland; ; right frontal lobe;
	Top expressed in
	neural layer of retina; ; otolith organ; ; spermatocyte; ; utricle; ; Epithelium of choroid plexus; ; substantia nigra; ; olfactory epithelium; ; pineal gland; ; habenula; ; piriform cortex;
	More reference expression data
	n/a
Gene ontology
Molecular function	smoothened binding; patched binding; protein binding;
Cellular component	cytoplasm; ciliary basal body; cytosol; centrosome; cell projection; BBSome; membrane; plasma membrane; cilium; microtubule organizing center; ciliary membrane; axoneme; cytoskeleton;
Biological process	response to stimulus; retina homeostasis; cell projection organization; protein localization to cilium; protein transport; photoreceptor cell maintenance; visual perception; Golgi to plasma membrane protein transport; cilium assembly; non-motile cilium assembly; sensory perception of smell;
	Sources:Amigo / QuickGO
Orthologs
	582
	52028
	ENSG00000174483
	ENSMUSG00000006464
	Q8NFJ9
	Q3V3N7
	NM_024649
	NM_001033128
	NP_078925
	NP_001028300
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome.