Human Gene OSBPL8 (ENST00000261183.8) from GENCODE V44
  Description: Homo sapiens oxysterol binding protein like 8 (OSBPL8), transcript variant 1, mRNA. (from RefSeq NM_020841)
RefSeq Summary (NM_020841): 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 phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
Gencode Transcript: ENST00000261183.8
Gencode Gene: ENSG00000091039.17
Transcript (Including UTRs)
   Position: hg38 chr12:76,351,797-76,559,771 Size: 207,975 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg38 chr12:76,355,889-76,487,551 Size: 131,663 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:76,351,797-76,559,771)mRNA (may differ from genome)Protein (889 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OSBL8_HUMAN
DESCRIPTION: RecName: Full=Oxysterol-binding protein-related protein 8; Short=ORP-8; Short=OSBP-related protein 8;
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the OSBP family.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAG53411.1; Type=Frameshift; Positions=30; Sequence=BAA95975.3; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.61 RPKM in Cells - Cultured fibroblasts
Total median expression: 326.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -213.50442-0.483 Picture PostScript Text
3' UTR -851.504092-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000648 - Oxysterol-bd
IPR018494 - Oxysterol-bd_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF01237 - Oxysterol-binding protein
PF00169 - PH domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1V88 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9BZF1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0005548 phospholipid transporter activity
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0070273 phosphatidylinositol-4-phosphate binding

Biological Process:
GO:0006869 lipid transport
GO:0010891 negative regulation of sequestering of triglyceride
GO:0015914 phospholipid transport
GO:0030336 negative regulation of cell migration
GO:0032148 activation of protein kinase B activity
GO:0036150 phosphatidylserine acyl-chain remodeling
GO:0045444 fat cell differentiation
GO:0046628 positive regulation of insulin receptor signaling pathway
GO:0051897 positive regulation of protein kinase B signaling
GO:0090204 protein localization to nuclear pore
GO:2001275 positive regulation of glucose import in response to insulin stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0032541 cortical endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  AB040884 - Homo sapiens KIAA1451 mRNA for KIAA1451 protein.
CR749542 - Homo sapiens mRNA; cDNA DKFZp686A11164 (from clone DKFZp686A11164).
AF392452 - Homo sapiens oxysterol-binding protein-like protein OSBPL8 (OSBPL8) mRNA, complete cds.
BC111728 - Homo sapiens oxysterol binding protein-like 8, transcript variant 1, mRNA (cDNA clone MGC:133203 IMAGE:40029118), complete cds.
AK289997 - Homo sapiens cDNA FLJ76759 complete cds, highly similar to Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.
BC082235 - Homo sapiens oxysterol binding protein-like 8, mRNA (cDNA clone IMAGE:3634175), partial cds.
AF323730 - Homo sapiens OSBP-related protein 8 mRNA, partial cds.
KJ895271 - Synthetic construct Homo sapiens clone ccsbBroadEn_04665 OSBPL8 gene, encodes complete protein.
BX647211 - Homo sapiens mRNA; cDNA DKFZp686C0249 (from clone DKFZp686C0249).
AK055835 - Homo sapiens cDNA FLJ31273 fis, clone KIDNE2006299, weakly similar to BOB1 PROTEIN.
BC093834 - Homo sapiens oxysterol binding protein-like 8, mRNA (cDNA clone MGC:120869 IMAGE:7939679), complete cds.
BC101529 - Homo sapiens oxysterol binding protein-like 8, mRNA (cDNA clone MGC:126578 IMAGE:8069035), complete cds.
BC143251 - Homo sapiens cDNA clone IMAGE:9051753, containing frame-shift errors.
AB385471 - Synthetic construct DNA, clone: pF1KA1451, Homo sapiens OSBPL8 gene for oxysterol-binding protein-related protein 8, complete cds, without stop codon, in Flexi system.
AK092160 - Homo sapiens cDNA FLJ34841 fis, clone NT2NE2010842, weakly similar to KES1 PROTEIN.
AX747385 - Sequence 910 from Patent EP1308459.
AF173895 - Homo sapiens MSTP120 (MST120) mRNA, complete cds.
AL832876 - Homo sapiens mRNA; cDNA DKFZp667I113 (from clone DKFZp667I113).
JD561755 - Sequence 542779 from Patent EP1572962.
JD082482 - Sequence 63506 from Patent EP1572962.
JD502992 - Sequence 484016 from Patent EP1572962.
JD245088 - Sequence 226112 from Patent EP1572962.
JD041007 - Sequence 22031 from Patent EP1572962.
JD229071 - Sequence 210095 from Patent EP1572962.
JD114225 - Sequence 95249 from Patent EP1572962.
JD502325 - Sequence 483349 from Patent EP1572962.
JD560831 - Sequence 541855 from Patent EP1572962.
JD232182 - Sequence 213206 from Patent EP1572962.
AL049923 - Homo sapiens mRNA; cDNA DKFZp564E2282 (from clone DKFZp564E2282).
AK172813 - Homo sapiens cDNA FLJ23974 fis, clone HEP18860.
JD284280 - Sequence 265304 from Patent EP1572962.
JD260277 - Sequence 241301 from Patent EP1572962.
JD566447 - Sequence 547471 from Patent EP1572962.
JD301061 - Sequence 282085 from Patent EP1572962.
JD315195 - Sequence 296219 from Patent EP1572962.
JD491341 - Sequence 472365 from Patent EP1572962.
JD553161 - Sequence 534185 from Patent EP1572962.
JD166719 - Sequence 147743 from Patent EP1572962.
JD537676 - Sequence 518700 from Patent EP1572962.
JD171248 - Sequence 152272 from Patent EP1572962.
JD349626 - Sequence 330650 from Patent EP1572962.
JD272223 - Sequence 253247 from Patent EP1572962.
JD357093 - Sequence 338117 from Patent EP1572962.
JD285125 - Sequence 266149 from Patent EP1572962.
BC012935 - Homo sapiens oxysterol binding protein-like 8, mRNA (cDNA clone IMAGE:3853496), partial cds.
JD197519 - Sequence 178543 from Patent EP1572962.
JD320136 - Sequence 301160 from Patent EP1572962.
JD025220 - Sequence 6244 from Patent EP1572962.
JD474814 - Sequence 455838 from Patent EP1572962.
JD128787 - Sequence 109811 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BZF1 (Reactome details) participates in the following event(s):

R-HSA-8867876 OSBPL5,8,10 exchange PS with PI4P from ER membrane to plasma membrane
R-HSA-1482801 Acyl chain remodelling of PS
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1T2, ENST00000261183.1, ENST00000261183.2, ENST00000261183.3, ENST00000261183.4, ENST00000261183.5, ENST00000261183.6, ENST00000261183.7, KIAA1451, NM_020841, ORP8, OSBL8_HUMAN, OSBP10, Q52LQ3, Q8WXP8, Q9BZF1, Q9P277, uc001sye.1, uc001sye.2, uc001sye.3
UCSC ID: ENST00000261183.8
RefSeq Accession: NM_020841
Protein: Q9BZF1 (aka OSBL8_HUMAN)
CCDS: CCDS31862.1, CCDS41814.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.