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 reticu... See more...

Aliases for OSBPL8 Gene

Aliases for OSBPL8 Gene

  • Oxysterol Binding Protein Like 8 2 3 5
  • Oxysterol-Binding Protein-Related Protein 8 3 4
  • OSBP-Related Protein 8 3 4
  • OSBP10 3 4
  • ORP8 3 4
  • Oxysterol Binding Protein-Like 8 2
  • KIAA1451 4
  • MSTP120 3
  • MST120 3
  • ORP-8 4

External Ids for OSBPL8 Gene

Previous GeneCards Identifiers for OSBPL8 Gene

  • GC12M076333
  • GC12M077087
  • GC12M076678
  • GC12M075248
  • GC12M075269
  • GC12M076745
  • GC12M073797

Summaries for OSBPL8 Gene

Entrez Gene Summary for OSBPL8 Gene

  • 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]

GeneCards Summary for OSBPL8 Gene

OSBPL8 (Oxysterol Binding Protein Like 8) is a Protein Coding gene. Diseases associated with OSBPL8 include Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Metabolism and Acyl chain remodelling of PE. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL5.

UniProtKB/Swiss-Prot Summary for OSBPL8 Gene

  • Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267).

Gene Wiki entry for OSBPL8 Gene

Additional gene information for OSBPL8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSBPL8 Gene

Genomics for OSBPL8 Gene

GeneHancer (GH) Regulatory Elements for OSBPL8 Gene

Promoters and enhancers for OSBPL8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J076557 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 508.7 +0.6 608 4.8 ZNF217 NRF1 TCF12 USF1 POLR2G SP1 GTF2E2 PHF8 ZFX CTCF OSBPL8 LOC105369850 lnc-BBS10-5 ZDHHC17 BBS10 piR-31199-070
GH12J076621 Enhancer 1.1 Ensembl ENCODE 11.1 -61.7 -61692 1.4 FOXK2 ZNF217 CTCF USF1 NCOR1 KDM6A TCF7 FOXA1 REST CUX1 OSBPL8 lnc-ZDHHC17-8 piR-57461-048
GH12J076636 Enhancer 1 Ensembl ENCODE 11.1 -77.0 -76992 2.8 EP300 JUND ZNF639 ZNF10 ZBTB10 CTBP1 ATF2 NCOR1 BCL11A NFIC RF00017-1191 OSBPL8 ZDHHC17 RPL21P98 LOC105369851
GH12J076611 Enhancer 1.1 FANTOM5 Ensembl ENCODE 7.4 -51.6 -51591 2.8 ZNF217 FOS EP300 CTBP1 OSR2 ZNF316 CEBPB CHD2 JUN ZNF426 ZDHHC17 OSBPL8 YWHAQP7 ENSG00000287030 ENSG00000257526 LOC105369850
GH12J076632 Enhancer 0.6 Ensembl 11.5 -74.0 -73991 2 EP300 OSR2 NCOR1 TCF7L2 GATA3 TAL1 TCF12 PRDM6 PRDM10 ZNF664 RF00017-1191 OSBPL8 piR-57461-048
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSBPL8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSBPL8

Top Transcription factor binding sites by QIAGEN in the OSBPL8 gene promoter:
  • Lhx3a
  • LHX3b
  • N-Myc
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for OSBPL8 Gene

Genomic Locations for OSBPL8 Gene
chr12:76,351,797-76,559,809
(GRCh38/hg38)
Size:
208,013 bases
Orientation:
Minus strand
chr12:76,745,577-76,953,589
(GRCh37/hg19)
Size:
208,013 bases
Orientation:
Minus strand

Genomic View for OSBPL8 Gene

Genes around OSBPL8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL8 Gene

Proteins for OSBPL8 Gene

  • Protein details for OSBPL8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZF1-OSBL8_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 8
    Protein Accession:
    Q9BZF1
    Secondary Accessions:
    • A8K1T2
    • E9PE66
    • E9PE68
    • Q52LQ3
    • Q68D75
    • Q8WXP8
    • Q9P277

    Protein attributes for OSBPL8 Gene

    Size:
    889 amino acids
    Molecular mass:
    101196 Da
    Quaternary structure:
    • Interacts with SPAG5 (PubMed:24424245). Interacts with NUP62 (PubMed:21698267).
    SequenceCaution:
    • Sequence=AAG53411.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA95975.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OSBPL8 Gene

    Alternative splice isoforms for OSBPL8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBPL8 Gene

Post-translational modifications for OSBPL8 Gene

  • Ubiquitination at Lys697
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL8 Gene

Domains & Families for OSBPL8 Gene

Gene Families for OSBPL8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for OSBPL8 Gene

Blocks:
  • Pleckstrin-like
  • Oxysterol-binding protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OSBPL8 Gene

GenScript: Design optimal peptide antigens:
  • Oxysterol-binding protein (E9PE68_HUMAN)
  • Oxysterol-binding protein (F5H7T2_HUMAN)
  • Oxysterol-binding protein-related protein 8 (OSBL8_HUMAN)
  • Oxysterol-binding protein (Q641R2_HUMAN)
  • MSTP120 (Q7Z2S4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZF1

UniProtKB/Swiss-Prot:

OSBL8_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL8: view

Function for OSBPL8 Gene

Molecular function for OSBPL8 Gene

UniProtKB/Swiss-Prot Function:
Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267).

Gene Ontology (GO) - Molecular Function for OSBPL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 26206935
GO:0005548 phospholipid transporter activity TAS --
GO:0008289 lipid binding IBA 21873635
GO:0015485 cholesterol binding IDA 17428193
GO:0032934 sterol binding IBA 21873635
genes like me logo Genes that share ontologies with OSBPL8: view
genes like me logo Genes that share phenotypes with OSBPL8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL8 Gene

Localization for OSBPL8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL8 Gene

[Isoform 1]: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane. Note=The presence of the N-terminus extension contains an overall negative charge that may explain the weak localization to the cortical endoplasmic reticulum (Probable). {ECO:0000305 PubMed:26206935}.
[Isoform 3]: Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Localizes to the cortical endoplasmic reticulum at the endoplasmic reticulum-plasma membrane contact sites. {ECO:0000269 PubMed:26206935}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSBPL8 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSBPL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with OSBPL8: view

Pathways & Interactions for OSBPL8 Gene

genes like me logo Genes that share pathways with OSBPL8: view

Gene Ontology (GO) - Biological Process for OSBPL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0010891 negative regulation of sequestering of triglyceride IDA 23028956
GO:0015914 phospholipid transport IBA,IDA 26206935
GO:0030336 negative regulation of cell migration IEA --
GO:0032148 activation of protein kinase B activity ISS --
genes like me logo Genes that share ontologies with OSBPL8: view

No data available for SIGNOR curated interactions for OSBPL8 Gene

Drugs & Compounds for OSBPL8 Gene

No Compound Related Data Available

Transcripts for OSBPL8 Gene

mRNA/cDNA for OSBPL8 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL8

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^
SP1: -
SP2:
SP3: -
SP4: -
SP5: - -
SP6:
SP7:
SP8:
SP9: - -
SP10: - - - - - - - -
SP11: -
SP12: - - -
SP13: - - - - - - -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for OSBPL8 Gene

GeneLoc Exon Structure for
OSBPL8

Expression for OSBPL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OSBPL8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OSBPL8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSBPL8 Gene



Protein tissue co-expression partners for OSBPL8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OSBPL8

SOURCE GeneReport for Unigene cluster for OSBPL8 Gene:

Hs.430849

mRNA Expression by UniProt/SwissProt for OSBPL8 Gene:

Q9BZF1-OSBL8_HUMAN
Tissue specificity: Widely expressed (PubMed:11735225). Expressed at higher level in macrophages (PubMed:17991739).

Evidence on tissue expression from TISSUES for OSBPL8 Gene

  • Nervous system(4.7)
  • Liver(4.5)
genes like me logo Genes that share expression patterns with OSBPL8: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL8 Gene

Orthologs for OSBPL8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OSBPL8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL8 31 30
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL8 31 30
  • 95.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OSBPL8 31 30
  • 94.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl8 30
  • 89.64 (n)
mouse
(Mus musculus)
Mammalia Osbpl8 17 31 30
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL8 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL8 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL8 31 30
  • 79.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL8 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl8 30
  • 76.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23528 30
zebrafish
(Danio rerio)
Actinopterygii CABZ01007893.1 31
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42668 31 30
  • 57.36 (n)
OneToMany
CG5077 32
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003484 30
  • 57.35 (n)
worm
(Caenorhabditis elegans)
Secernentea obr-3 31 30
  • 55.29 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH7 31 30
  • 49.74 (n)
ManyToMany
OSH6 31
  • 30 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A02827g 30
  • 47.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL287C 30
  • 47.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Cin.9663 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC23B6.01c 30
  • 49.05 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03258 30
  • 44.44 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9663 30
Species where no ortholog for OSBPL8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OSBPL8 Gene

ENSEMBL:
Gene Tree for OSBPL8 (if available)
TreeFam:
Gene Tree for OSBPL8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSBPL8: view image

Paralogs for OSBPL8 Gene

(4) SIMAP similar genes for OSBPL8 Gene using alignment to 13 proteins:

  • OSBL8_HUMAN
  • F8VQX7_HUMAN
  • F8VS33_HUMAN
  • F8VUA7_HUMAN
  • F8VVD3_HUMAN
  • F8VVE7_HUMAN
  • F8VZ43_HUMAN
  • F8VZB8_HUMAN
  • F8W060_HUMAN
  • F8W1F1_HUMAN
  • L8ECJ0_HUMAN
  • Q641R2_HUMAN
  • Q96E43_HUMAN
genes like me logo Genes that share paralogs with OSBPL8: view

Variants for OSBPL8 Gene

Additional dbSNP identifiers (rs#s) for OSBPL8 Gene

Structural Variations from Database of Genomic Variants (DGV) for OSBPL8 Gene

Variant ID Type Subtype PubMed ID
esv23723 CNV gain 19812545
esv2663126 CNV deletion 23128226
esv2746089 CNV deletion 23290073
esv2761751 CNV gain 21179565
esv3332413 CNV insertion 20981092
esv3437425 CNV insertion 20981092
esv3580331 CNV loss 25503493
esv3580332 CNV loss 25503493
esv3630030 CNV loss 21293372
esv3630031 CNV loss 21293372
nsv1122746 CNV deletion 24896259
nsv520195 CNV gain 19592680
nsv957916 CNV deletion 24416366

Variation tolerance for OSBPL8 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSBPL8 Gene

Disorders for OSBPL8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBPL8 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OSBPL8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSBPL8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSBPL8 Gene

Publications for OSBPL8 Gene

  1. OSBP-related protein 8 (ORP8) suppresses ABCA1 expression and cholesterol efflux from macrophages. (PMID: 17991739) Yan D … Olkkonen VM (The Journal of biological chemistry 2008) 2 3 4 23 54
  2. INTRACELLULAR TRANSPORT. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts. (PMID: 26206935) Chung J … De Camilli P (Science (New York, N.Y.) 2015) 3 4 54
  3. OSBP-related protein 8 (ORP8) interacts with Homo sapiens sperm associated antigen 5 (SPAG5) and mediates oxysterol interference of HepG2 cell cycle. (PMID: 24424245) Zhong W … Yan D (Experimental cell research 2014) 3 4 54
  4. OSBP-related protein 8 (ORP8) regulates plasma and liver tissue lipid levels and interacts with the nucleoporin Nup62. (PMID: 21698267) Zhou T … Yan D (PloS one 2011) 3 4 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for OSBPL8 Gene

Sources for OSBPL8 Gene