• Gene id: 114876

Gene Summary

• Gene Symbol: OSBPL1A   Gene   UCSC   Ensembl
• Aliases: ORP-1, ORP1, OSBPL1B
• Gene name: oxysterol binding protein like 1A
• Alternate names: oxysterol-binding protein-related protein 1, OSBP-related protein 1, oxysterol binding protein-like 1B, oxysterol-binding protein-related protein 1 variant 1, oxysterol-binding protein-related protein 1 variant 2,
• Gene location: 18q11.2 (111755796: 111722063)     Exons: 5     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although
• OMIM: 606730

Protein Summary

• Protein general information: Q9BXW6  
  • Name: Oxysterol binding protein related protein 1 (ORP 1) (OSBP related protein 1)
  • Length: 950  
  • Mass: 108470
• Sequence:

  MNTEAEQQLLHHARNGNAEEVRQLLETMARNEVIADINCKGRSKSNLGWTPLHLACYFGHRQVVQDLLKAGAEVN
  VLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLLAAAR
  EGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHIL
  VGNKVIYKALKRYEGPLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFF
  IKCFDDTIHGFRVPKNSLQQSREDWLEAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDR
  EISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALTDCLNLFTKQEGVRNFKLEQEQEKNKILSEALETL
  ATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEHLGSRKHRMSEEKDCGGGDA
  LSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSLSDPV
  ERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYP
  KLKFWGKSVEAEPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFG
  KELHKVEGYIQDKSKKKLCALYGKWTECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVF
  IIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESVIPKTDCRLRPDIRAMENGEIDQASEEKKRLEEKQ
  RAARKNRSKSEEDWKTRWFHQGPNPYNGAQDWIYSGSYWDRNYFNLPDIY

• Structural information:
  • Protein Domains: (235..33-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037239  IPR000648   IPR018494  IPR011993  IPR001849  
  • Prosite: PS50297 PS50088 PS01013 PS50003
  • PDB: 5ZM5 5ZM6 5ZM7 6IYB
  • PDBsum: 5ZM5 5ZM6 5ZM7 6IYB
  • STRING: ENSP00000320291
• Other Databases: GeneCards:  OSBPL1A  Malacards:  OSBPL1A

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:0016020	membrane	IBA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
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:0005770	late endosome	IEA	cellular component
GO:0015918	sterol transport	IEA	biological process
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0008203	cholesterol metabolic process	NAS	biological process
GO:0005543	phospholipid binding	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016192	vesicle-mediated transport	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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