• Gene id: 114879

Gene Summary

• Gene Symbol: OSBPL5   Gene   UCSC   Ensembl
• Aliases: OBPH1, ORP5
• Gene name: oxysterol binding protein like 5
• Alternate names: oxysterol-binding protein-related protein 5, ORP-5, OSBP-related protein 5, oxysterol-binding protein homolog 1, oxysterol-binding protein homologue 1,
• Gene location: 11p15.4 (3165309: 3087106)     Exons: 25     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain a
• OMIM: 606733

Protein Summary

• Protein general information: Q9H0X9  
  • Name: Oxysterol binding protein related protein 5 (ORP 5) (OSBP related protein 5) (Oxysterol binding protein homolog 1)
  • Length: 879  
  • Mass: 98616
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MKEEAFLRRRFSLCPPSSTPQKVDPRKLTRNLLLSGDNELYPLSPGKDMEPNGPSLPRDEGPPTPSSATKVPPAE
  YRLCNGSDKECVSPTARVTKKETLKAQKENYRQEKKRATRQLLSALTDPSVVIMADSLKIRGTLKSWTKLWCVLK
  PGVLLIYKTPKVGQWVGTVLLHCCELIERPSKKDGFCFKLFHPLDQSVWAVKGPKGESVGSITQPLPSSYLIFRA
  ASESDGRCWLDALELALRCSSLLRLGTCKPGRDGEPGTSPDASPSSLCGLPASATVHPDQDLFPLNGSSLENDAF
  SDKSERENPEESDTETQDHSRKTESGSDQSETPGAPVRRGTTYVEQVQEELGELGEASQVETVSEENKSLMWTLL
  KQLRPGMDLSRVVLPTFVLEPRSFLNKLSDYYYHADLLSRAAVEEDAYSRMKLVLRWYLSGFYKKPKGIKKPYNP
  ILGETFRCCWFHPQTDSRTFYIAEQVSHHPPVSAFHVSNRKDGFCISGSITAKSRFYGNSLSALLDGKATLTFLN
  RAEDYTLTMPYAHCKGILYGTMTLELGGKVTIECAKNNFQAQLEFKLKPFFGGSTSINQISGKITSGEEVLASLS
  GHWDRDVFIKEEGSGSSALFWTPSGEVRRQRLRQHTVPLEEQTELESERLWQHVTRAISKGDQHRATQEKFALEE
  AQRQRARERQESLMPWKPQLFHLDPITQEWHYRYEDHSPWDPLKDIAQFEQDGILRTLQQEAVARQTTFLGSPGP
  RHERSGPDQRLRKASDQPSGHSQATESSGSTPESCPELSDEEQDGDFVPGGESPCPRCRKEARRLQALHEAILSI
  REAQQELHRHLSAMLSSTARAAQAPTPGLLQSPRSWFLLCVFLACQLFINHILK

• Structural information:
  • Protein Domains: (126..24-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR001849  
  • Prosite: PS01013 PS50003
  • DIP: 52332
  • STRING: ENSP00000263650
• Other Databases: GeneCards:  OSBPL5  Malacards:  OSBPL5

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:0015485	cholesterol binding	IBA	molecular function
GO:0015914	phospholipid transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0001786	phosphatidylserine binding	IDA	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:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0036150	phosphatidylserine acyl-chain remodeling	TAS	biological process
GO:0005548	phospholipid transporter activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0015485	cholesterol binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0140343	phosphatidylserine transfer activity	IDA	molecular function
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0030301	cholesterol transport	NAS	biological process
GO:0006893	Golgi to plasma membrane transport	NAS	biological process
GO:0005829	cytosol	NAS	cellular component
GO:0008203	cholesterol metabolic process	NAS	biological process
GO:0008142	oxysterol binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray