BBS5

From Wikipedia, the free encyclopedia

Bardet-Biedl syndrome 5

Identifiers

External IDs

OMIM: 603650 MGI: 1919819 HomoloGene: 12471

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• cellular_component • intracellular
Biological Process:	• visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

XM_001131828 (mRNA)
XP_001131828 (protein)

NM_028284 (mRNA)
NP_082560 (protein)

Location

n/a

Chr 2: 69.45 - 69.47 Mb

Pubmed search

[1]

[2]

Bardet-Biedl syndrome 5, also known as BBS5, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: BBS5 Bardet-Biedl syndrome 5.

[edit] 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. PMID 8889549.
Woods MO, Young TL, Parfrey PS, et al. (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, et al. (1999). "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.". Am. J. Hum. Genet. 64 (3): 900–4. PMID 10053027.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. 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.154701. 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. 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. doi:10.1073/pnas.242603899. 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. PMID 15137946.
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. 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. 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. 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. 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. PMID 16381901.