BBS7 (original) (raw)

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Protein-coding gene in the species Homo sapiens

BBS7
Identifiers
Aliases	BBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDs	OMIM: 607590; MGI: 1918742; HomoloGene: 12395; GeneCards: BBS7; OMA:BBS7 - orthologs
Gene 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 patternBgeeHuman Mouse (ortholog)Top expressed inendothelial cellAchilles tendonlateral nuclear group of thalamusBrodmann area 23primary visual cortexpostcentral gyrusprefrontal cortextesticlesuperior frontal gyrussecondary oocyteTop expressed inneural layer of retinaovarian folliclespermatidspermatocytesecondary follicle of ovaryseminiferous tubuleretinal pigment epitheliumgenital tubercleolfactory epitheliumotolith organMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome cell projection BBSome membrane plasma membrane photoreceptor outer segment cilium microtubule organizing center ciliary membrane axoneme cytoskeleton nucleus neuron projection Biological process eye 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 development Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez5521271492EnsemblENSG00000138686ENSMUSG00000037325UniProtQ8IWZ6Q8K2G4RefSeq (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]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[5]

Mutations in this gene are associated with the Bardet–Biedl syndrome.[5]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138686 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037325 – 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. ^ 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.

• 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. 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.

• GeneReviews/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.