BBS5

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
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000163093 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000063145 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet–Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics. 55 (1): 2–9. doi:10.1006/geno.1998.5626. PMID 9888993.
6. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (Apr 1999). "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31". Am J Hum Genet. 64 (3): 900–4. doi:10.1086/302301. PMC 1377810. PMID 10053027.
7. "Entrez Gene: BBS5 Bardet–Biedl syndrome 5". Archived from the original on 2010-03-07. Retrieved 2017-08-30.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome

Further reading

• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Li JB, Gerdes JM, Haycraft CJ, et al. (2004). "Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene". Cell. 117 (4): 541–52. doi:10.1016/S0092-8674(04)00450-7. PMID 15137946. S2CID 2379795.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

External links

• BBS5 human gene location in the UCSC Genome Browser.
• BBS5 human gene details in the UCSC Genome Browser.