BBS7

Bardet-Biedl syndrome 7
Identifiers
Symbols	BBS7 ; BBS2L1
External IDs	OMIM: 607590 MGI: 1918742 HomoloGene: 12395 GeneCards: BBS7 Gene
Gene ontology Molecular function • RNA polymerase II repressing transcription factor binding • protein binding Cellular component • photoreceptor outer segment • nucleus • centrosome • cytosol • axoneme • membrane • BBSome • ciliary basal body • ciliary membrane Biological process • eye development • heart looping • regulation of transcription from RNA polymerase II promoter • organelle organization • smoothened signaling pathway • determination of left/right symmetry • brain development • visual perception • protein localization • protein transport • melanosome transport • positive regulation of proteasomal ubiquitin-dependent protein catabolic process • nonmotile primary cilium assembly • cilium assembly • fat cell differentiation • intracellular transport • digestive tract morphogenesis • pigment granule aggregation in cell center • palate development • limb development • cilium morphogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55212	71492
Ensembl	ENSG00000138686	ENSMUSG00000037325
UniProt	Q8IWZ6	Q8K2G4
RefSeq (mRNA)	NM_018190	NM_027810
RefSeq (protein)	NP_060660	NP_082086
Location (UCSC)	Chr 4: 121.82 – 121.87 Mb	Chr 3: 36.57 – 36.61 Mb
PubMed search

Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.^[1]

Mutations in this gene are associated with the Bardet-Biedl syndrome.^[1]

References

1. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324.

Further reading

• Oeffner F, Moch C, Neundorf A; et al. (2008). "Novel interaction partners of Bardet-Biedl syndrome proteins.". Cell Motil. Cytoskeleton 65 (2): 143–55. doi:10.1002/cm.20250. PMID 18000879.
• 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.
• Nachury MV, Loktev AV, Zhang Q; et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.". Cell 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030.
• Chung WK, Patki A, Matsuoka N; et al. (2009). "Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.". Hum. Hered. 67 (3): 193–205. doi:10.1159/000181158. PMC 2715950. PMID 19077438.
• 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.
• 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.
• Yang Z, Yang Y, Zhao P; et al. (2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.". Mol. Vis. 14: 2304–8. PMC 2603185. PMID 19093007.
• Katsanis N, Ansley SJ, Badano JL; et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.". Science 293 (5538): 2256–9. doi:10.1126/science.1063525. PMID 11567139.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "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. PMC 139241. PMID 12477932.
• Bin J, Madhavan J, Ferrini W; et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.". Hum. Mutat. 30 (7): E737–46. doi:10.1002/humu.21040. PMID 19402160.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
• Bbs7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)