Human Gene OSBPL5 (ENST00000389989.7) from GENCODE V44
  Description: Homo sapiens oxysterol binding protein like 5 (OSBPL5), transcript variant 2, mRNA. (from RefSeq NM_145638)
RefSeq Summary (NM_145638): 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 and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010].
Gencode Transcript: ENST00000389989.7
Gencode Gene: ENSG00000021762.20
Transcript (Including UTRs)
   Position: hg38 chr11:3,087,121-3,165,300 Size: 78,180 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr11:3,088,205-3,129,148 Size: 40,944 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:3,087,121-3,165,300)mRNA (may differ from genome)Protein (811 aa)
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PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OSBL5_HUMAN
DESCRIPTION: RecName: Full=Oxysterol-binding protein-related protein 5; Short=ORP-5; Short=OSBP-related protein 5; AltName: Full=Oxysterol-binding protein homolog 1;
FUNCTION: May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein.
TISSUE SPECIFICITY: Ubiquitously expressed.
MISCELLANEOUS: The gene is imprinted in placenta, where it is predominantly expressed from the maternal allele only. Not imprinted in other tissues.
SIMILARITY: Belongs to the OSBP family.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAA96058.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  MalaCards Disease Associations
  MalaCards Gene Search: OSBPL5
Diseases sorted by gene-association score: adult syndrome (8)

-  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: 24.83 RPKM in Cervix - Endocervix
Total median expression: 412.06 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 -37.1099-0.375 Picture PostScript Text
3' UTR -473.001084-0.436 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

ModBase Predicted Comparative 3D Structure on Q9H0X9
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-  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 orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0005548 phospholipid transporter activity
GO:0008142 oxysterol binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0070273 phosphatidylinositol-4-phosphate binding

Biological Process:
GO:0006869 lipid transport
GO:0006893 Golgi to plasma membrane transport
GO:0008203 cholesterol metabolic process
GO:0015914 phospholipid transport
GO:0030301 cholesterol transport
GO:0036150 phosphatidylserine acyl-chain remodeling

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AF392453 - Homo sapiens oxysterol-binding protein-like protein OSBPL5 (OSBPL5) mRNA, complete cds.
AL136918 - Homo sapiens mRNA; cDNA DKFZp586H1719 (from clone DKFZp586H1719).
BC039579 - Homo sapiens oxysterol binding protein-like 5, mRNA (cDNA clone MGC:48715 IMAGE:5769002), complete cds.
AB074006 - Homo sapiens OBPH1 mRNA for oxysterol binding protein homologue 1, complete cds.
AK056510 - Homo sapiens cDNA FLJ31948 fis, clone NT2RP7007100, highly similar to Oxysterol-binding protein-related protein 5.
BC032646 - Homo sapiens oxysterol binding protein-like 5, mRNA (cDNA clone MGC:44908 IMAGE:5518491), complete cds.
AK303205 - Homo sapiens cDNA FLJ58557 complete cds, highly similar to Oxysterol-binding protein-related protein 5.
AK297475 - Homo sapiens cDNA FLJ51505 complete cds, highly similar to Oxysterol-binding protein-related protein 5.
AK293000 - Homo sapiens cDNA FLJ78486 complete cds, highly similar to Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 2, mRNA.
AK309411 - Homo sapiens cDNA, FLJ99452.
AK055617 - Homo sapiens cDNA FLJ31055 fis, clone HSYRA2000743, highly similar to Oxysterol-binding protein-related protein 5.
JD396921 - Sequence 377945 from Patent EP1572962.
BC017505 - Homo sapiens, clone IMAGE:4873434, mRNA, partial cds.
AB040967 - Homo sapiens mRNA for KIAA1534 protein, partial cds.
AK124919 - Homo sapiens cDNA FLJ42929 fis, clone BRSSN2008549, highly similar to Oxysterol-binding protein-related protein 5.
JD056135 - Sequence 37159 from Patent EP1572962.
JD459124 - Sequence 440148 from Patent EP1572962.
JD496749 - Sequence 477773 from Patent EP1572962.
JD374243 - Sequence 355267 from Patent EP1572962.
JD051309 - Sequence 32333 from Patent EP1572962.
JD097731 - Sequence 78755 from Patent EP1572962.
JD482876 - Sequence 463900 from Patent EP1572962.
JD236073 - Sequence 217097 from Patent EP1572962.
JD116570 - Sequence 97594 from Patent EP1572962.
JD427268 - Sequence 408292 from Patent EP1572962.
JD459027 - Sequence 440051 from Patent EP1572962.
JD050252 - Sequence 31276 from Patent EP1572962.
JD236065 - Sequence 217089 from Patent EP1572962.
JD195120 - Sequence 176144 from Patent EP1572962.
JD389606 - Sequence 370630 from Patent EP1572962.
AK301003 - Homo sapiens cDNA FLJ51506 complete cds, highly similar to Oxysterol-binding protein-related protein 5.
JD537741 - Sequence 518765 from Patent EP1572962.
JD515407 - Sequence 496431 from Patent EP1572962.
JD223719 - Sequence 204743 from Patent EP1572962.
JD210085 - Sequence 191109 from Patent EP1572962.
JD216541 - Sequence 197565 from Patent EP1572962.
JD368216 - Sequence 349240 from Patent EP1572962.
JD074670 - Sequence 55694 from Patent EP1572962.
JD398023 - Sequence 379047 from Patent EP1572962.
AF410430 - Homo sapiens oxysterol binding protein-related protein mRNA, complete cds.
KJ895270 - Synthetic construct Homo sapiens clone ccsbBroadEn_04664 OSBPL5 gene, encodes complete protein.
KJ906408 - Synthetic construct Homo sapiens clone ccsbBroadEn_16078 OSBPL5 gene, encodes complete protein.
AB463157 - Synthetic construct DNA, clone: pF1KA1534, Homo sapiens OSBPL5 gene for oxysterol binding protein-like 5, without stop codon, in Flexi system.
AM392891 - Synthetic construct Homo sapiens clone IMAGE:100002392 for hypothetical protein (OSBPL5 gene).
AM393424 - Synthetic construct Homo sapiens clone IMAGE:100002391 for hypothetical protein (OSBPL5 gene).
JD104127 - Sequence 85151 from Patent EP1572962.
JD476417 - Sequence 457441 from Patent EP1572962.
JD204993 - Sequence 186017 from Patent EP1572962.
CU691730 - Synthetic construct Homo sapiens gateway clone IMAGE:100023187 5' read OSBPL5 mRNA.
AF331964 - Homo sapiens OSBP-related protein 5 mRNA, partial cds.

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

Protein Q9H0X9 (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: A6NDP0, A6NJS8, ENST00000389989.1, ENST00000389989.2, ENST00000389989.3, ENST00000389989.4, ENST00000389989.5, ENST00000389989.6, KIAA1534, NM_145638, OBPH1, ORP5, OSBL5_HUMAN, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4, uc001lxl.1, uc001lxl.2, uc001lxl.3
UCSC ID: ENST00000389989.7
RefSeq Accession: NM_145638
Protein: Q9H0X9 (aka OSBL5_HUMAN)
CCDS: CCDS31343.1

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