OSBPL9

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Oxysterol binding protein-like 9
Identifiers
Symbols OSBPL9 ; ORP-9; ORP9
External IDs OMIM606737 HomoloGene69380 GeneCards: OSBPL9 Gene
Orthologs
Species Human Mouse
Entrez 114883 100273
Ensembl ENSG00000117859 ENSMUSG00000028559
UniProt Q96SU4 A2A8Z1
RefSeq (mRNA) NM_024586 NM_001134791
RefSeq (protein) NP_078862 NP_001128263
Location (UCSC) Chr 1:
52.04 – 52.25 Mb
Chr 4:
109.06 – 109.2 Mb
PubMed search [1] [2]

Oxysterol binding protein-like 9 is a protein that in humans is encoded by the OSBPL9 gene.[1]

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12.[1]

Model organisms[edit]

Model organisms have been used in the study of OSBPL9 function. A conditional knockout mouse line, called Osbpl9tm1a(KOMP)Wtsi[6][7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty four tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[4]

References[edit]

  1. ^ a b "Entrez Gene: oxysterol binding protein-like 9". Retrieved 2011-08-30. 
  2. ^ "Salmonella infection data for Osbpl9". Wellcome Trust Sanger Institute. 
  3. ^ "Citrobacter infection data for Osbpl9". Wellcome Trust Sanger Institute. 
  4. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  5. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  6. ^ "International Knockout Mouse Consortium". 
  7. ^ "Mouse Genome Informatics". 
  8. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  9. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  11. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.