OSBPL9

Oxysterol binding protein-like 9 is a protein that in humans is encoded by the OSBPL9 gene.[5]

OSBPL9
Identifiers
AliasesOSBPL9, ORP-9, ORP9, oxysterol binding protein like 9
External IDsOMIM: 606737 MGI: 1923784 HomoloGene: 69380 GeneCards: OSBPL9
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p32.3Start51,577,179 bp[1]
End51,798,427 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

114883

100273

Ensembl

ENSG00000117859

ENSMUSG00000028559

UniProt

Q96SU4

A2A8Z1

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 1: 51.58 – 51.8 MbChr 4: 109.06 – 109.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Model organisms

Model organisms have been used in the study of OSBPL9 function. A conditional knockout mouse line, called Osbpl9tm1a(KOMP)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000117859 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028559 - 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. "Entrez Gene: oxysterol binding protein-like 9". Retrieved 2011-08-30.
  6. "Salmonella infection data for Osbpl9". Wellcome Trust Sanger Institute.
  7. "Citrobacter infection data for Osbpl9". Wellcome Trust Sanger Institute.
  8. 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.
  9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. "International Knockout Mouse Consortium".
  11. "Mouse Genome Informatics".
  12. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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

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