OSBPL9
Identifiers
Aliases	OSBPL9, ORP-9, ORP9, oxysterol binding protein like 9
External IDs	OMIM: 606737 MGI: 1923784 HomoloGene: 69380 GeneCards: OSBPL9
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p32.3 Start 51,577,179 bp[1] End 51,798,427 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C7 Start 109,061,145 bp[2] End 109,202,272 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon right lung popliteal artery sural nerve renal medulla retinal pigment epithelium right coronary artery gastric mucosa germinal epithelium palpebral conjunctiva Top expressed in proximal tubule carotid body iris ankle conjunctival fornix intercostal muscle medullary collecting duct renal corpuscle facial motor nucleus ciliary body More reference expression data BioGPS n/a
Gene ontology Molecular function lipid binding sterol transporter activity sterol binding Cellular component endosome Golgi apparatus membrane late endosome membrane cytosol intracellular membrane-bounded organelle Biological process lipid transport bile acid biosynthetic process sterol transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 114883 100273 Ensembl ENSG00000117859 ENSMUSG00000028559 UniProt Q96SU4 A2A8Z1 RefSeq (mRNA) NM_024586 NM_148904 NM_148905 NM_148906 NM_148907 NM_148908 NM_148909 NM_001330580 NM_001350208 NM_001350209 NM_001350210 NM_001134791 NM_133885 NM_173350 NM_001346502 NM_001355190 NM_001355191 NM_001368727 RefSeq (protein) NP_001317509 NP_078862 NP_683702 NP_683703 NP_683704 NP_683705 NP_683706 NP_683707 NP_001337137 NP_001337138 NP_001337139 NP_001128263 NP_001333431 NP_598646 NP_775485 NP_001342119 NP_001342120 NP_001355656 Location (UCSC) Chr 1: 51.58 – 51.8 Mb Chr 4: 109.06 – 109.2 Mb PubMed search [3] [4]
Wikidata
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Oxysterol binding protein-like 9 is a protein that in humans is encoded by the OSBPL9 gene.^[5]

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 Osbpl9^{tm1a(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]