Protein-coding gene in the species Homo sapiens
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
^ a b c GRCh38: Ensembl release 89: ENSG00000163093 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063145 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ 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 . ^ a b "Entrez Gene: BBS5 Bardet–Biedl syndrome 5" .
External links 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 .
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