BBS9

BBS9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDsMGI: 2442833 HomoloGene: 44480 GeneCards: BBS9
Orthologs
SpeciesHumanMouse
Entrez

27241

319845

Ensembl

n/a

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_848502
NP_851833
NP_001347187
NP_001347188

Location (UCSC)n/aChr 9: 22.48 – 22.89 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035919 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  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. 1 2 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".

Further reading

  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. 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.
  • 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.