BBS5

Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.^[5][6][7]

BBS5
Identifiers
Aliases	BBS5, Bardet-Biedl syndrome 5
External IDs	OMIM: 603650; MGI: 1919819; HomoloGene: 12471; GeneCards: BBS5; OMA:BBS5 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 169,479,480 bp[1] End 169,506,655 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C2 Start 69,477,515 bp[2] End 69,497,915 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube testicle olfactory zone of nasal mucosa pituitary gland anterior pituitary hippocampus proper temporal lobe amygdala nucleus accumbens Achilles tendon Top expressed in spermatid neural layer of retina seminiferous tubule spermatocyte olfactory epithelium otolith organ utricle zygote superior cervical ganglion secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatidylinositol-3-phosphate binding protein binding Cellular component cytoplasm cytosol cell projection BBSome membrane plasma membrane cilium intracellular anatomical structure microtubule organizing center ciliary membrane cytoskeleton axoneme ciliary basal body centriolar satellite Biological process response to stimulus intracellular transport heart looping cell projection organization melanosome transport protein transport motile cilium assembly visual perception cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 129880 72569 Ensembl ENSG00000163093 ENSMUSG00000063145 UniProt Q8N3I7 Q9CZQ9 RefSeq (mRNA) NM_152384 NM_028284 NM_001362706 RefSeq (protein) NP_689597 NP_082560 NP_001349635 Location (UCSC) Chr 2: 169.48 – 169.51 Mb Chr 2: 69.48 – 69.5 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a protein that has been directly linked to Bardet–Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.^[7]