• Gene id: 114885

Gene Summary

• Gene Symbol: OSBPL11   Gene   UCSC   Ensembl
• Aliases: ORP-11, ORP11, OSBP12, TCCCIA00292
• Gene name: oxysterol binding protein like 11
• Alternate names: oxysterol-binding protein-related protein 11, OSBP-related protein 11, testicular tissue protein Li 132,
• Gene location: 3q21.2 (125595496: 125528857)     Exons: 13     NC_000003.12
• 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
• OMIM: 606739

Protein Summary

• Protein general information: Q9BXB4  
  • Name: Oxysterol binding protein related protein 11 (ORP 11) (OSBP related protein 11)
  • Length: 747  
  • Mass: 83643
  • Tissue specificity: Present at highest levels in ovary, testis, kidney, liver, stomach, brain, and adipose tissue. Strong expression (at protein level) in epithelial cells of kidney tubules, testicular tubules, caecum, and skin (PubMed
• Sequence:

  MQGGEPVSTMKVSESEGKLEGQATAVTPNKNSSCGGGISSSSSSRGGSAKGWQYSDHMENVYGYLMKYTNLVTGW
  QYRFFVLNNEAGLLEYFVNEQSRNQKPRGTLQLAGAVISPSDEDSHTFTVNAASGEQYKLRATDAKERQHWVSRL
  QICTQHHTEAIGKNNPPLKSRSFSLASSSNSPISQRRPSQNAISFFNVGHSKLQSLSKRTNLPPDHLVEVREMMS
  HAEGQQRDLIRRIECLPTSGHLSSLDQDLLMLKATSMATMNCLNDCFHILQLQHASHQKGSLPSGTTIEWLEPKI
  SLSNHYKNGADQPFATDQSKPVAVPEEQPVAESGLLAREPEEINADDEIEDTCDHKEDDLGAVEEQRSVILHLLS
  QLKLGMDLTRVVLPTFILEKRSLLEMYADFMSHPDLFIAITNGATAEDRMIRFVEYYLTSFHEGRKGAIAKKPYN
  PIIGETFHCSWKMPKSEVASSVFSSSSTQGVTNHAPLSGESLTQVGSDCYTVRFVAEQVSHHPPVSGFYAECTER
  KMCVNAHVWTKSKFLGMSIGVTMVGEGILSLLEHGEEYTFSLPCAYARSILTVPWVELGGKVSVNCAKTGYSASI
  TFHTKPFYGGKLHRVTAEVKHNITNTVVCRVQGEWNSVLEFTYSNGETKYVDLTKLAVTKKRVRPLEKQDPFESR
  RLWKNVTDSLRESEIDKATEHKHTLEERQRTEERHRTETGTPWKTKYFIKEGDGWVYHKPLWKIIPTTQPAE

• Structural information:
  • Protein Domains: (58..15-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR001849  
  • Prosite: PS01013 PS50003
  • PDB: 2D9X
  • PDBsum: 2D9X
  • STRING: ENSP00000296220
• Other Databases: GeneCards:  OSBPL11  Malacards:  OSBPL11

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0015248	sterol transporter activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045444	fat cell differentiation	IMP	biological process
GO:0010890	positive regulation of sequestering of triglyceride	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015918	sterol transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq