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Aliases for OSBPL8 Gene

Aliases for OSBPL8 Gene

  • Oxysterol Binding Protein Like 8 2 3 5
  • OSBP-Related Protein 8 3 4
  • OSBP10 3 4
  • ORP8 3 4
  • Oxysterol-Binding Protein-Related Protein 8 3
  • 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. Among its related pathways are Acyl chain remodelling of PE and Glycerophospholipid biosynthesis. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL5.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL8 Gene

Genomics for OSBPL8 Gene

Regulatory Elements for OSBPL8 Gene

Enhancers for OSBPL8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G076587 1.1 FANTOM5 Ensembl ENCODE 10.3 -29.0 -29040 2.3 ZNF146 CBX3 CEBPB CEBPG MYC ZNF507 BBS10 OSBPL8 GC12P076586 RPL7AP9
GH12G076455 1.4 FANTOM5 Ensembl ENCODE 5.5 +103.1 103091 3.1 CTCF JUN RAD21 RFX5 FOSL1 ZNF316 POLR2A SMC3 FOSL2 FOS OSBPL8 GC12M076501 BBS10
GH12G076557 1.1 ENCODE 6.1 +0.4 421 2.8 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 BBS10 OSBPL8 GC12P076557
GH12G076664 1.4 FANTOM5 Ensembl ENCODE 4.7 -105.8 -105782 2.8 HDGF PKNOX1 ZSCAN4 SIN3A BMI1 CBX5 ZNF207 FOS RELB CREM ZDHHC17 OSBPL8 LOC105369851 PIR46759
GH12G076569 0.8 FANTOM5 ENCODE 8.1 -10.1 -10112 0.2 ZNF316 MAFK OSBPL8 ZDHHC17 GC12P076571 ENSG00000257526
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBPL8 on UCSC Golden Path with GeneCards custom track

Promoters for OSBPL8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054198 709 3001 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for OSBPL8 Gene

Chromosome:
12
Start:
76,351,797 bp from pter
End:
76,559,809 bp from pter
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; Positions=30; 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 posLast=697697
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL8 Gene

Domains & Families for OSBPL8 Gene

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 IEA --
GO:0015485 cholesterol binding IDA 17428193
GO:0070273 phosphatidylinositol-4-phosphate binding IDA 26206935
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

No data available for Enzyme Numbers (IUBMB) , 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 1
peroxisome 1

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 IEA,IDA 19946888
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:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0010891 negative regulation of sequestering of triglyceride IDA 23028956
GO:0015914 phospholipid transport IDA 26206935
GO:0030336 negative regulation of cell migration IEA --
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

Unigene Clusters for OSBPL8 Gene

Oxysterol binding protein-like 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
OSBPL8

Expression for OSBPL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for OSBPL8 Gene



Protein tissue co-expression partners for OSBPL8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSBPL8 Gene:

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

Primer Products

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 34 35
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia OSBPL8 34 35
  • 95.01 (n)
cow
(Bos Taurus)
Mammalia OSBPL8 34 35
  • 94.15 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl8 34
  • 89.64 (n)
mouse
(Mus musculus)
Mammalia Osbpl8 34 16 35
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL8 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL8 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL8 34 35
  • 79.29 (n)
lizard
(Anolis carolinensis)
Reptilia OSBPL8 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl8 34
  • 76.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23528 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01007893.1 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42668 34 35
  • 57.36 (n)
CG5077 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003484 34
  • 57.35 (n)
worm
(Caenorhabditis elegans)
Secernentea obr-3 34 35
  • 55.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH7 34 35
  • 49.74 (n)
OSH6 35
  • 30 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A02827g 34
  • 47.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL287C 34
  • 47.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC23B6.01c 34
  • 49.05 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03258 34
  • 44.44 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9663 34
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)

Paralogs for OSBPL8 Gene

Paralogs for OSBPL8 Gene

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

Variants for OSBPL8 Gene

Sequence variations from dbSNP and Humsavar for OSBPL8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000014590 -- 76,508,576(+) GGAGG(C/T)CTGCA intron-variant
rs1000023278 -- 76,422,415(+) TGTTT(C/T)ATTTA intron-variant
rs1000029347 -- 76,438,226(+) CATGA(C/T)CCGCC intron-variant
rs1000034918 -- 76,380,162(+) TCTTC(A/C)AAAAA intron-variant
rs1000046194 -- 76,540,533(+) ACAGA(A/G)AGAGA intron-variant

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)

Relevant External Links for OSBPL8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL8 Gene

Disorders for OSBPL8 Gene

Relevant External Links for OSBPL8

Genetic Association Database (GAD)
OSBPL8
Human Genome Epidemiology (HuGE) Navigator
OSBPL8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSBPL8

No disorders were found for OSBPL8 Gene.

No data available for MalaCards , 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 V.M. (J. Biol. Chem. 2008) 2 3 4 22 64
  2. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts. (PMID: 26206935) Chung J. … De Camilli P. (Science 2015) 3 4 64
  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. (Exp. Cell Res. 2014) 3 4 64
  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 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for OSBPL8 Gene

Sources for OSBPL8 Gene

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