• Gene id: 5007

Gene Summary

• Gene Symbol: OSBP   Gene   UCSC   Ensembl
• Aliases: OSBP1
• Gene name: oxysterol binding protein
• Alternate names: oxysterol-binding protein 1,
• Gene location: 11q12.1 (59615773: 59574397)     Exons: 14     NC_000011.10
• Gene summary(Entrez): Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
• OMIM: 606342

Protein Summary

• Protein general information: P22059  
  • Name: Oxysterol binding protein 1
  • Length: 807  
  • Mass: 89421
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAATELRGVVGPGPAAIAALGGGGAGPPVVGGGGGRGDAGPGSGAASGTVVAAAAGGPGPGAGGVAAAGPAPAPP
  TGGSGGSGAGGSGSAREGWLFKWTNYIKGYQRRWFVLSNGLLSYYRSKAEMRHTCRGTINLATANITVEDSCNFI
  ISNGGAQTYHLKASSEVERQRWVTALELAKAKAVKMLAESDESGDEESVSQTDKTELQNTLRTLSSKVEDLSTCN
  DLIAKHGTALQRSLSELESLKLPAESNEKIKQVNERATLFRITSNAMINACRDFLMLAQTHSKKWQKSLQYERDQ
  RIRLEETLEQLAKQHNHLERAFRGATVLPANTPGNVGSGKDQCCSGKGDMSDEDDENEFFDAPEIITMPENLGHK
  RTGSNISGASSDISLDEQYKHQLEETKKEKRTRIPYKPNYSLNLWSIMKNCIGKELSKIPMPVNFNEPLSMLQRL
  TEDLEYHELLDRAAKCENSLEQLCYVAAFTVSSYSTTVFRTSKPFNPLLGETFELDRLEENGYRSLCEQVSHHPP
  AAAHHAESKNGWTLRQEIKITSKFRGKYLSIMPLGTIHCIFHATGHHYTWKKVTTTVHNIIVGKLWIDQSGEIDI
  VNHKTGDKCNLKFVPYSYFSRDVARKVTGEVTDPSGKVHFALLGTWDEKMECFKVQPVIGENGGDARQRGHEAEE
  SRVMLWKRNPLPKNAENMYYFSELALTLNAWESGTAPTDSRLRPDQRLMENGRWDEANAEKQRLEEKQRLSRKKR
  EAEAMKATEDGTPYDPYKALWFERKKDPVTKELTHIYRGEYWECKEKQDWSSCPDIF

• Structural information:
  • Protein Domains: (88..18-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR001849  
  • Prosite: PS01013 PS50003
  • PDB: 2RR3
  • PDBsum: 2RR3
  • STRING: ENSP00000263847
• Other Databases: GeneCards:  OSBP  Malacards:  OSBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0032934	sterol binding	IBA	molecular function
GO:0008289	lipid binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0015248	sterol transporter activity	IBA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015918	sterol transport	IDA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0008142	oxysterol binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0015248	sterol transporter activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120015	sterol transfer activity	IDA	molecular function
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0019904	protein domain specific binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray