• Gene id: 114881

Gene Summary

• Gene Symbol: OSBPL7   Gene   UCSC   Ensembl
• Aliases: ORP7
• Gene name: oxysterol binding protein like 7
• Alternate names: oxysterol-binding protein-related protein 7, ORP-7, OSBP-related protein 7,
• Gene location: 17q21.32 (47821821: 47807366)     Exons: 23     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like stero

Protein Summary

• Protein general information: Q9BZF2  
  • Name: Oxysterol binding protein related protein 7 (ORP 7) (OSBP related protein 7)
  • Length: 842  
  • Mass: 95432
  • Tissue specificity: Expressed in epithelium of small and large intestines (at protein level). Expressed in stomach, duodenum, jejunum, ascending colon, spleen, thymus, lymph node, trachea and leukocytes. {ECO
• Sequence:

  MDFQERDPPFLPESAQSSKPSSAQQASELWEVVEEPRVRLGTEGVMPERQEGHLLKKRKWPLKGWHKRYFVLEDG
  ILHYATTRQDITKGKLHGSIDVRLSVMSINKKAQRIDLDTEDNIYHLKIKSQDLFQSWVAQLRAHRLAHRLDMPR
  GSLPSTAHRKVPGAQLPTAATASALPGLGPREKVSSWLRDSDGLDRCSHELSECQGKLQELHRLLQSLESLHRIP
  SAPVIPTHQASVTTERPKKGKRTSRMWCTQSFAKDDTIGRVGRLHGSVPNLSRYLESRDSSGTRGLPPTDYAHLQ
  RSFWALAQKVHSSLSSVLAALTMERDQLRDMHQGSELSRMGVSEASTGQRRLHSLSTSSDTTADSFSSLNPEEQE
  ALYMKGRELTPQLSQTSILSLADSHTEFFDACEVLLSASSSENEGSEEEESCTSEITTSLSEEMLDLRGAERCQK
  GGCVPGRPMGPPRRRCLPAASGPGADVSLWNILRNNIGKDLSKVSMPVQLNEPLNTLQRLCEELEYSSLLDQASR
  IADPCERMVYIAAFAVSAYSSTYHRAGCKPFNPVLGETYECERPDRGFRFISEQVSHHPPISACHAESENFAFWQ
  DMKWKNKFWGKSLEIVPVGTVNVSLPRFGDHFEWNKVTSCIHNVLSGQRWIEHYGEVLIRNTQDSSCHCKITFCK
  AKYWSSNVHEVQGAVLSRSGRVLHRLFGKWHEGLYRGPTPGGQCIWKPNSMPPDHERNFGFTQFALELNELTAEL
  KRSLPSTDTRLRPDQRYLEEGNIQAAEAQKRRIEQLQRDRRKVMEENNIVHQARFFRRQTDSSGKEWWVTNNTYW
  RLRAEPGYGNMDGAVLW

• Structural information:
  • Protein Domains: (47..14-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR041680   IPR001849  
  • Prosite: PS01013 PS50003
  • STRING: ENSP00000007414
• Other Databases: GeneCards:  OSBPL7  Malacards:  OSBPL7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010506	regulation of autophagy	NAS	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0008289	lipid binding	IBA	molecular function
GO:0032934	sterol binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0097038	perinuclear endoplasmic reticulum	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0015248	sterol transporter activity	IBA	molecular function
GO:0015485	cholesterol binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0097038	perinuclear endoplasmic reticulum	IDA	cellular component
GO:0005776	autophagosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0071397	cellular response to cholesterol	IMP	biological process
GO:1901800	positive regulation of proteasomal protein catabolic process	IMP	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015918	sterol transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq