9bhibs English

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BBS9
Available structures
PDBOrtholog search:
List of PDB id codes
Identifiers
AliasesBBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDs
Gene location (Mouse)
Chr.Chromosome 9 (mouse)[1]
Band9 9 A3Start22,475,715 bp[1]
End22,888,280 bp[1]
Gene ontology
Molecular functionGO:0001948 protein binding
molecular function
Cellular componentcytoplasm
cytosol
cell projection
BBSome
pericentriolar material
membrane
cell membrane
cilium
centriolar satellite
ciliary transition zone
microtubule organizing center
ciliary membrane
cytoskeleton
Biological processresponse to stimulus
cell projection organization
protein localization to cilium
protein transport
fat cell differentiation
visual perception
cilium morphogenesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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/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 BBS9gene.[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]Hardware id trivium keygen for mac iso.

References[edit]

9bhibs English
  1. ^ abcGRCm38: 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. PMID10221542.
  5. ^ abNishimura 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. PMC1285160. PMID16380913.
  6. ^'Entrez Gene: Bardet–Biedl syndrome 9'.

External links[edit]

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

Further reading[edit]

  • 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. PMC2882961. PMID12690205.
  • 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. PMID18349106.
  • 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. PMID17574030. S2CID11917072.
  • 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. PMID12618763.
  • 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. PMID15489334.
  • 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. PMID14702039.
  • 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. PMID12477932.
9bhibs English

External links[edit]

9bhibs English
  • Bbs9 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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