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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-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. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL11.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL8 Gene

Genomics for OSBPL8 Gene

Regulatory Elements for OSBPL8 Gene

Promoters for OSBPL8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OSBPL8 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for OSBPL8 Gene at MOPED

Post-translational modifications for OSBPL8 Gene

  • Ubiquitination at Lys 697
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for OSBPL8 Gene

Domains & Families for OSBPL8 Gene

Protein Domains for OSBPL8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZF1

UniProtKB/Swiss-Prot:

OSBL8_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the OSBP family.
Domain:
  • Contains 1 PH domain.
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).

Phenotypes for OSBPL8 Gene

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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for OSBPL8 Gene COMPARTMENTS Subcellular localization image for OSBPL8 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
nucleus 4
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for OSBPL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with OSBPL8: view

Pathways & Interactions for OSBPL8 Gene

SuperPathways for OSBPL8 Gene

No Data Available

Interacting Proteins for OSBPL8 Gene

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:0032148 activation of protein kinase B activity ISS --
GO:0046628 positive regulation of insulin receptor signaling pathway IEA --
GO:2001275 positive regulation of glucose import in response to insulin stimulus ISS --
genes like me logo Genes that share ontologies with OSBPL8: view

No data available for Pathways by source and 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:

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 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, MOPED, and MaxQB for OSBPL8 Gene



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).
genes like me logo Genes that share expression patterns with OSBPL8: view

Protein tissue co-expression partners for OSBPL8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia OSBPL8 35
  • 94.15 (n)
  • 96.96 (a)
OSBPL8 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL8 35
  • 95.01 (n)
  • 97.86 (a)
OSBPL8 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl8 35
  • 89.35 (n)
  • 96.06 (a)
Osbpl8 16
Osbpl8 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OSBPL8 35
  • 99.85 (n)
  • 100 (a)
OSBPL8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl8 35
  • 89.64 (n)
  • 96.28 (a)
oppossum
(Monodelphis domestica)
Mammalia OSBPL8 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL8 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL8 35
  • 79.29 (n)
  • 84.55 (a)
OSBPL8 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL8 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl8 35
  • 76.79 (n)
  • 83.11 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23528 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01007893.1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5077 37
  • 49 (a)
CG42668 35
  • 57.36 (n)
  • 57.98 (a)
CG42668 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003484 35
  • 57.35 (n)
  • 62.56 (a)
worm
(Caenorhabditis elegans)
Secernentea obr-3 35
  • 55.29 (n)
  • 52 (a)
obr-3 36
  • 46 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL287C 35
  • 47.36 (n)
  • 37.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A02827g 35
  • 47.76 (n)
  • 38.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH7 35
  • 49.74 (n)
  • 39.32 (a)
OSH6 36
  • 30 (a)
ManyToMany
OSH7 36
  • 32 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9663 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03258 35
  • 44.44 (n)
  • 38.64 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC23B6.01c 35
  • 49.05 (n)
  • 41.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for OSBPL8:
  • 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
rs1039999 -- 76,547,796(+) ACAGT(C/T)TCATT intron-variant
rs1040000 -- 76,548,133(+) TCCCT(C/T)CAGTT intron-variant
rs1040001 -- 76,548,228(+) GAAAA(C/T)CCAAC intron-variant
rs1040002 -- 76,554,580(+) TGCGG(A/G)GTGGT intron-variant
rs1046209 -- 76,352,391(-) TTTTT(G/T)TTAGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv520195 CNV Gain 19592680
esv23723 CNV Gain 19812545
esv2746089 CNV Deletion 23290073
esv274660 CNV Insertion 20981092
esv269262 CNV Insertion 20981092
esv2663126 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
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 23 67
  2. Oxysterol-binding protein-related protein 8 (ORP8) increases sensitivity of hepatocellular carcinoma cells to Fas-mediated apoptosis. (PMID: 25596532) Zhong W. … Yan D. (J. Biol. Chem. 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts. (PMID: 26206935) Chung J. … De Camilli P. (Science 2015) 3

Products for OSBPL8 Gene

Sources for OSBPL8 Gene

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