Human Gene OSBPL1A (ENST00000319481.8_7) from GENCODE V47lift37
  Description: oxysterol binding protein like 1A, transcript variant 2 (from RefSeq NM_080597.4)
Gencode Transcript: ENST00000319481.8_7
Gencode Gene: ENSG00000141447.19_11
Transcript (Including UTRs)
   Position: hg19 chr18:21,742,016-21,977,788 Size: 235,773 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr18:21,743,143-21,957,497 Size: 214,355 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:21,742,016-21,977,788)mRNA (may differ from genome)Protein (950 aa)
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-  Comments and Description Text from UniProtKB
  ID: OSBL1_HUMAN
DESCRIPTION: RecName: Full=Oxysterol-binding protein-related protein 1; Short=ORP-1; Short=OSBP-related protein 1;
FUNCTION: Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A.
SUBUNIT: Interacts with VAPA (By similarity). Interacts with the GTP-bound form of RAB7A. Interacts with OAS1B (By similarity).
SUBCELLULAR LOCATION: Late endosome. Note=Co-localizes with RAB7A, RAB9A and LAMP1 in late endosomes.
SIMILARITY: Belongs to the OSBP family.
SIMILARITY: Contains 3 ANK repeats.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAG53407.2; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;

-  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
  • D016572 Cyclosporine
  • D013749 Tetrachlorodibenzodioxin
  • C016403 2,4-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C028451 3,4,3',4'-tetrachlorobiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • C547126 AZM551248
  • D001564 Benzo(a)pyrene
  • D002117 Calcitriol
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.39 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 333.39 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 -83.30172-0.484 Picture PostScript Text
3' UTR -238.001127-0.211 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR000648 - Oxysterol-bd
IPR018494 - Oxysterol-bd_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00023 - Ankyrin repeat
PF01237 - Oxysterol-binding protein
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
50729 - PH domain-like
48403 - Ankyrin repeat
144000 - Oxysterol-binding protein-like

ModBase Predicted Comparative 3D Structure on Q9BXW6
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
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
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 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0015248 sterol transporter activity
GO:0015485 cholesterol binding

Biological Process:
GO:0006699 bile acid biosynthetic process
GO:0006869 lipid transport
GO:0008203 cholesterol metabolic process
GO:0015918 sterol transport
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II

Cellular Component:
GO:0005768 endosome
GO:0005770 late endosome
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF274714 - Homo sapiens oxysterol-binding protein-related protein (ORP1) mRNA, complete cds.
AF323726 - Homo sapiens OSBP-related protein 1 mRNA, complete cds.
AF392450 - Homo sapiens oxysterol-binding protein-like protein OSBPL1B (OSBPL1B) mRNA, complete cds.
AF392449 - Homo sapiens oxysterol-binding protein-like protein OSBPL1A (OSBPL1A) mRNA, complete cds.
BC063420 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone IMAGE:5220953), complete cds.
BC098384 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone IMAGE:5264608), complete cds.
BC136452 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone MGC:168064 IMAGE:9020441), complete cds.
BC144117 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone MGC:177654 IMAGE:9052637), complete cds.
BC073854 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone IMAGE:4370860), partial cds.
AK096358 - Homo sapiens cDNA FLJ39039 fis, clone NT2RP7009577, highly similar to Oxysterol-binding protein-related protein 1.
AK292895 - Homo sapiens cDNA FLJ77475 complete cds, highly similar to Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant OSBPL1B, mRNA.
AK301862 - Homo sapiens cDNA FLJ55503 complete cds, highly similar to Oxysterol-binding protein-related protein 1.
AK314552 - Homo sapiens cDNA, FLJ95376, highly similar to Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant OSBPL1A, mRNA.
CU687704 - Synthetic construct Homo sapiens gateway clone IMAGE:100022827 5' read OSBPL1A mRNA.
AK001079 - Homo sapiens cDNA FLJ10217 fis, clone HEMBA1006877.
BX647893 - Homo sapiens mRNA; cDNA DKFZp686L23107 (from clone DKFZp686L23107).
BC007004 - Homo sapiens, Similar to oxysterol-binding protein-related protein 1, clone IMAGE:4044188, mRNA, partial cds.
BC022293 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone IMAGE:4806524), with apparent retained intron.
JD084012 - Sequence 65036 from Patent EP1572962.
JD115664 - Sequence 96688 from Patent EP1572962.
JD491433 - Sequence 472457 from Patent EP1572962.
JD280264 - Sequence 261288 from Patent EP1572962.
JD563308 - Sequence 544332 from Patent EP1572962.
JD253914 - Sequence 234938 from Patent EP1572962.
JD414179 - Sequence 395203 from Patent EP1572962.
JD326354 - Sequence 307378 from Patent EP1572962.
JD151557 - Sequence 132581 from Patent EP1572962.
JD495290 - Sequence 476314 from Patent EP1572962.
JD521359 - Sequence 502383 from Patent EP1572962.
JD045109 - Sequence 26133 from Patent EP1572962.
JD172177 - Sequence 153201 from Patent EP1572962.
JD078952 - Sequence 59976 from Patent EP1572962.
BC041563 - Homo sapiens oxysterol binding protein-like 1A, mRNA (cDNA clone IMAGE:5922907), complete cds.
JD305118 - Sequence 286142 from Patent EP1572962.
JD138641 - Sequence 119665 from Patent EP1572962.

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

Protein Q9BXW6 (Reactome details) participates in the following event(s):

R-HSA-8867667 OSBPs transport 25OH-CHOL from ER membrane to plasma membrane
R-HSA-2132295 MHC class II antigen presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-168256 Immune System
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z7D3, ENST00000319481.1, ENST00000319481.2, ENST00000319481.3, ENST00000319481.4, ENST00000319481.5, ENST00000319481.6, ENST00000319481.7, NM_080597, ORP1, OSBL1_HUMAN, OSBP8, OSBPL1, OSBPL1A , OSBPL1B, Q9BXW6, Q9BZF5, Q9NW87, uc317qri.1, uc317qri.2
UCSC ID: ENST00000319481.8_7
RefSeq Accession: NM_080597.4
Protein: Q9BXW6 (aka OSBL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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