• Gene id: 114882

Gene Summary

• Gene Symbol: OSBPL8   Gene   UCSC   Ensembl
• Aliases: MST120, MSTP120, ORP8, OSBP10
• Gene name: oxysterol binding protein like 8
• Alternate names: oxysterol-binding protein-related protein 8, OSBP-related protein 8,
• Gene location: 12q21.2 (76559804: 76351796)     Exons: 30     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphat
• OMIM: 606736

Protein Summary

• Protein general information: Q9BZF1  
  • Name: Oxysterol binding protein related protein 8 (ORP 8) (OSBP related protein 8)
  • Length: 889  
  • Mass: 101196
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MEGGLADGEPDRTSLLGDSKDVLGPSTVVANSDESQLLTPGKMSQRQGKEAYPTPTKDLHQPSLSPASPHSQGFE
  RGKEDISQNKDESSLSMSKSKSESKLYNGSEKDSSTSSKLTKKESLKVQKKNYREEKKRATKELLSTITDPSVIV
  MADWLKIRGTLKSWTKLWCVLKPGVLLIYKTQKNGQWVGTVLLNACEIIERPSKKDGFCFKLFHPLEQSIWAVKG
  PKGEAVGSITQPLPSSYLIIRATSESDGRCWMDALELALKCSSLLKRTMIREGKEHDLSVSSDSTHVTFYGLLRA
  NNLHSGDNFQLNDSEIERQHFKDQDMYSDKSDKENDQEHDESDNEVMGKSEESDTDTSERQDDSYIEPEPVEPLK
  ETTYTEQSHEELGEAGEASQTETVSEENKSLIWTLLKQVRPGMDLSKVVLPTFILEPRSFLDKLSDYYYHADFLS
  EAALEENPYFRLKKVVKWYLSGFYKKPKGLKKPYNPILGETFRCLWIHPRTNSKTFYIAEQVSHHPPISAFYVSN
  RKDGFCLSGSILAKSKFYGNSLSAILEGEARLTFLNRGEDYVMTMPYAHCKGILYGTMTLELGGTVNITCQKTGY
  SAILEFKLKPFLGSSDCVNQISGKLKLGKEVLATLEGHWDSEVFITDKKTDNSEVFWNPTPDIKQWRLIRHTVKF
  EEQGDFESEKLWQRVTRAINAKDQTEATQEKYVLEEAQRQAARDRKTKNEEWSCKLFELDPLTGEWHYKFADTRP
  WDPLNDMIQFEKDGVIQTKVKHRTPMVSVPKMKHKPTRQQKKVAKGYSSPEPDIQDSSGSEAQSVKPSTRRKKGI
  ELGDIQSSIESIKQTQEEIKRNIMALRNHLVSSTPATDYFLQQKDYFIIFLLILLQVIINFMFK

• Structural information:
  • Protein Domains: (148..26-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR001849  
  • Prosite: PS01013 PS50003
  • PDB: 1V88 5U77 5U78
  • PDBsum: 1V88 5U77 5U78
  • DIP: 56130
  • STRING: ENSP00000261183
• Other Databases: GeneCards:  OSBPL8  Malacards:  OSBPL8

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:0015914	phospholipid transport	IBA	biological process
GO:0015485	cholesterol binding	IBA	molecular function
GO:0015248	sterol transporter activity	IBA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0015914	phospholipid transport	IDA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0036150	phosphatidylserine acyl-chain remodeling	TAS	biological process
GO:0005548	phospholipid transporter activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0032148	activation of protein kinase B activity	IEA	biological process
GO:0046326	positive regulation of glucose import	IEA	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0090204	protein localization to nuclear pore	IEA	biological process
GO:0046326	positive regulation of glucose import	ISS	biological process
GO:0032148	activation of protein kinase B activity	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0045444	fat cell differentiation	IDA	biological process
GO:0010891	negative regulation of sequestering of triglyceride	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0140343	phosphatidylserine transfer activity	IDA	molecular function
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0015918	sterol transport	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881