BBS9

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.[4][5]

BBS9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YD8
Identifiers
Aliases	BBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDs	OMIM: 607968 MGI: 2442833 HomoloGene: 44480 GeneCards: BBS9
Gene location (Mouse) Chr. Chromosome 9 (mouse)[1] Band 9|9 A3 Start 22,475,715 bp[1] End 22,888,280 bp[1]
Gene ontology Molecular function • GO:0001948 protein binding • molecular function Cellular component • cytoplasm • cytosol • cell projection • BBSome • pericentriolar material • membrane • cell membrane • cilium • centriolar satellite • ciliary transition zone • microtubule organizing center • ciliary membrane • cytoskeleton Biological process • response to stimulus • cell projection organization • protein localization to cilium • protein transport • fat cell differentiation • visual perception • cilium morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	27241	319845
Ensembl	ENSG00000122507	ENSMUSG00000035919
UniProt	Q3SYG4	Q811G0
RefSeq (mRNA)	NM_001033604 NM_001033605 NM_014451 NM_198428	NM_178415 NM_181316 NM_001360258 NM_001360259
RefSeq (protein)	NP_001028776 NP_001028777 NP_055266 NP_940820 NP_001334965 NP_001334966 NP_001334967 NP_001334968 NP_001334969 NP_001334970 NP_001334971 NP_001334972 NP_001334973 NP_001334974 NP_001334975 NP_001349608	NP_848502 NP_851833 NP_001347187 NP_001347188
Location (UCSC)	n/a	Chr 9: 22.48 – 22.89 Mb
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.[6]

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

References

1. GRCm38: Ensembl release 89: ENSMUSG00000035919 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Adams AE, Rosenblatt M, Suva LJ (April 1999). "Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells". Bone. 24 (4): 305–13. doi:10.1016/S8756-3282(98)00188-4. PMID 10221542.
5. Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC (December 2005). "Comparative genomics and gene expression analysis identifies BBS9, a new Bardet–Biedl syndrome gene". Am. J. Hum. Genet. 77 (6): 1021–33. doi:10.1086/498323. PMC 1285160. PMID 16380913.
6. "Entrez Gene: Bardet–Biedl syndrome 9".

External links

• Human BBS9 genome location and BBS9 gene details page in the UCSC Genome Browser.

Further reading

• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
• Kang H, Lee SK, Kim MH, et al. (2008). "Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure". Hum. Reprod. 23 (6): 1457–65. doi:10.1093/humrep/den086. PMID 18349106.
• 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.
• Vernon EG, Malik K, Reynolds P, et al. (2003). "The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour". Oncogene. 22 (9): 1371–80. doi:10.1038/sj.onc.1206332. PMID 12618763.
• 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.
• 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.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome
• Bbs9 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)