^ abcGRCh38: Ensembl release 89: ENSG00000138686 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000037325 - 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.
^ abBadano 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. PMC1180240. PMID 12567324.
Further readingedit
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. Bibcode:2005Natur.434..724H. 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. S2CID 11917072.
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. PMC2715950. 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. PMC528928. 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. PMC2603185. 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. Bibcode:2001Sci...293.2256K. doi:10.1126/science.1063525. PMID 11567139. S2CID 41822166.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. S2CID 11446097.
External linksedit
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome
bbs7, bardet, biedl, syndrome, protein, that, humans, encoded, gene, identifiersaliases, bbs2l1, bardet, biedl, syndrome, 7external, idsomim, 607590, 1918742, homologene, 12395, genecards, gene, location, human, chromosome, human, band4q27start121, end121, gen. Bardet Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene 5 BBS7IdentifiersAliasesBBS7 BBS2L1 Bardet Biedl syndrome 7External IDsOMIM 607590 MGI 1918742 HomoloGene 12395 GeneCards BBS7Gene location Human Chr Chromosome 4 human 1 Band4q27Start121 824 329 bp 1 End121 870 487 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 3 BStart36 627 291 bp 2 End36 667 626 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellAchilles tendonBrodmann area 23postcentral gyrusprefrontal cortexsuperior frontal gyrussecondary oocyteganglionic eminencegerminal epitheliumstromal cell of endometriumTop expressed inovarian folliclespermatidspermatocyteseminiferous tubuleretinal pigment epitheliumolfactory epitheliumotolith organutriclehandcorpus luteumMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentcytoplasm ciliary basal body cytosol centrosome cell projection BBSome membrane plasma membrane photoreceptor outer segment cilium microtubule organizing center ciliary membrane axoneme cytoskeleton nucleus neuron projectionBiological processeye development protein localization pigment granule aggregation in cell center response to stimulus regulation of transcription by RNA polymerase II intracellular transport limb development heart looping heart development brain development determination of left right symmetry cell projection organization melanosome transport protein transport smoothened signaling pathway fat cell differentiation positive regulation of proteasomal ubiquitin dependent protein catabolic process visual perception digestive tract morphogenesis cilium assembly non motile cilium assembly primary palate developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5521271492EnsemblENSG00000138686ENSMUSG00000037325UniProtQ8IWZ6Q8K2G4RefSeq mRNA NM 018190NM 176824NM 027810RefSeq protein NP 060660NP 789794NP 082086Location UCSC Chr 4 121 82 121 87 MbChr 3 36 63 36 67 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseMutations in this gene are associated with the Bardet Biedl syndrome 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000138686 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000037325 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 a b 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 editOeffner 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 Bibcode 2005Natur 434 724H 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 S2CID 11917072 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 Bibcode 2001Sci 293 2256K doi 10 1126 science 1063525 PMID 11567139 S2CID 41822166 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 Bibcode 2002PNAS 9916899M 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 S2CID 11446097 External links editGeneReviews NIH NCBI UW entry on Bardet Biedl Syndrome Bbs7 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Human BBS7 genome location and BBS7 gene details page in the UCSC Genome Browser nbsp This article on a gene on human chromosome 4 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title BBS7 amp oldid 1171070867, wikipedia, wiki, book, books, library,
