BBS1

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.^[5][6][7] 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.

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)[1] Band 11q13.2 Start 66,510,606 bp[1] End 66,533,613 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 4,936,906 bp[2] End 4,956,656 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 582 52028 Ensembl ENSG00000174483 ENSMUSG00000006464 UniProt Q8NFJ9 Q3V3N7 RefSeq (mRNA) NM_024649 NM_001033128 RefSeq (protein) NP_078925 NP_001028300 Location (UCSC) Chr 11: 66.51 – 66.53 Mb Chr 19: 4.94 – 4.96 Mb PubMed search [3] [4]
Wikidata
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History

As of 2008^[update], research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.^{[7][needs update]}