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Aliases for OSBP Gene

Aliases for OSBP Gene

  • Oxysterol Binding Protein 2 3 5
  • OSBP1 3 4
  • Oxysterol-Binding Protein 1 3

External Ids for OSBP Gene

Previous GeneCards Identifiers for OSBP Gene

  • GC11M061735
  • GC11M060855
  • GC11M059592
  • GC11M059117
  • GC11M059098
  • GC11M059341
  • GC11M055689

Summaries for OSBP Gene

Entrez Gene Summary for OSBP Gene

  • Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]

GeneCards Summary for OSBP Gene

OSBP (Oxysterol Binding Protein) is a Protein Coding gene. Diseases associated with OSBP include Hepatitis C Virus. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include protein domain specific binding and oxysterol binding. An important paralog of this gene is OSBP2.

UniProtKB/Swiss-Prot for OSBP Gene

  • Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum (PubMed:24209621). Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol (PubMed:15746430, PubMed:17428193). Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly (PubMed:15746430). Regulates cholesterol efflux by decreasing ABCA1 stability (PubMed:18450749).

Gene Wiki entry for OSBP Gene

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

Genomics for OSBP Gene

Regulatory Elements for OSBP Gene

Enhancers for OSBP 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
GH11F059544 1.7 FANTOM5 Ensembl ENCODE 10.5 +67.0 67036 8.8 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 SP3 ENSG00000269570 ENSG00000255008 ENSG00000245571 LOC101927226 OR4D6 OR4D9 MS4A2 OR4D11 OSBP OR5A2
GH11F059555 1.4 Ensembl ENCODE 10.6 +57.0 56982 7.5 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ENSG00000269570 ENSG00000255008 LOC101927226 STX3 OSBP MS4A6A GC11P059559 TRK-TTT3-4
GH11F059565 1.1 ENCODE 10.6 +50.2 50202 2.0 ARNT ARID4B SIN3A YBX1 ZNF2 CBX5 ZNF207 FOS SP3 TBX21 ENSG00000269570 ENSG00000255008 LOC101927226 ENSG00000245571 OSBP LOC105369317
GH11F059688 0.7 Ensembl ENCODE 10.6 -72.8 -72809 1.1 NR2F1 NR2F6 LOC101927226 OSBP OR4D6 GC11P059703 LOC105369318
GH11F059753 1.5 FANTOM5 ENCODE 2.2 -139.5 -139543 4.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 FOS DEK STX3 PATL1 LOC101927226 MS4A6A OSBP FABP5P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBP on UCSC Golden Path with GeneCards custom track

Promoters for OSBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001603868 544 3201 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143

Genomic Location for OSBP Gene

Chromosome:
11
Start:
59,574,398 bp from pter
End:
59,616,144 bp from pter
Size:
41,747 bases
Orientation:
Minus strand

Genomic View for OSBP Gene

Genes around OSBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for OSBP Gene

Proteins for OSBP Gene

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

    Protein Symbol:
    P22059-OSBP1_HUMAN
    Recommended name:
    Oxysterol-binding protein 1
    Protein Accession:
    P22059
    Secondary Accessions:
    • Q6P524

    Protein attributes for OSBP Gene

    Size:
    807 amino acids
    Molecular mass:
    89421 Da
    Quaternary structure:
    • Homodimer or homotrimer. Interacts (via FFAT motif) with VAPA (PubMed:24209621, PubMed:20178991).
    SequenceCaution:
    • Sequence=AAH63121.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OSBP Gene

neXtProt entry for OSBP Gene

Post-translational modifications for OSBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OSBP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for OSBP Gene

Domains & Families for OSBP Gene

Suggested Antigen Peptide Sequences for OSBP Gene

Graphical View of Domain Structure for InterPro Entry

P22059

UniProtKB/Swiss-Prot:

OSBP1_HUMAN :
  • The FFAT motif is required for interaction with VATA and proper localization of the protein.
  • Belongs to the OSBP family.
Domain:
  • The FFAT motif is required for interaction with VATA and proper localization of the protein.
  • The PH and the Ala/Gly-rich domains control cholesterol binding without affecting 25-hydroxycholesterol binding.
  • The second coiled-coil domain is required for interaction with the tyrosine phosphatase.
  • Contains 1 PH domain.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBP: view

Function for OSBP Gene

Molecular function for OSBP Gene

GENATLAS Biochemistry:
oxysterol binding protein,involved in the regulation of cholesterol metabolism
UniProtKB/Swiss-Prot Function:
Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum (PubMed:24209621). Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol (PubMed:15746430, PubMed:17428193). Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly (PubMed:15746430). Regulates cholesterol efflux by decreasing ABCA1 stability (PubMed:18450749).

Gene Ontology (GO) - Molecular Function for OSBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21566117
GO:0008142 oxysterol binding TAS 1970801
GO:0008289 lipid binding IEA --
GO:0015248 sterol transporter activity IDA 24209621
GO:0019904 protein domain specific binding IPI 20178991
genes like me logo Genes that share ontologies with OSBP: view
genes like me logo Genes that share phenotypes with OSBP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OSBP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBP Gene

Localization for OSBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBP Gene

Cytoplasm, cytosol. Cytoplasm, perinuclear region. Golgi apparatus membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Predominantly cytosolic. {ECO:0000269 PubMed:24209621}.

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 OSBP gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
plasma membrane 2
peroxisome 2
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for OSBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 24209621
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 21988961
genes like me logo Genes that share ontologies with OSBP: view

Pathways & Interactions for OSBP Gene

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

SIGNOR curated interactions for OSBP Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for OSBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015918 sterol transport IDA 24209621
GO:0044128 positive regulation of growth of symbiont in host IMP 21988961
genes like me logo Genes that share ontologies with OSBP: view

Drugs & Compounds for OSBP Gene

(4) Drugs for OSBP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
25-Hydroxycholesterol Pharma Agonist 0

(5) Additional Compounds for OSBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OSBP: view

Transcripts for OSBP Gene

mRNA/cDNA for OSBP Gene

Unigene Clusters for OSBP Gene

Oxysterol binding protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OSBP

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for OSBP Gene

GeneLoc Exon Structure for
OSBP
ECgene alternative splicing isoforms for
OSBP

Expression for OSBP Gene

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

Protein differential expression in normal tissues from HIPED for OSBP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.6).

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



Protein tissue co-expression partners for OSBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSBP Gene:

OSBP

SOURCE GeneReport for Unigene cluster for OSBP Gene:

Hs.597091

mRNA Expression by UniProt/SwissProt for OSBP Gene:

P22059-OSBP1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with OSBP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for OSBP Gene

Orthologs for OSBP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSBP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBP 34 35
  • 99.79 (n)
rat
(Rattus norvegicus)
Mammalia Osbp 34
  • 92.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OSBP 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBP 34 35
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Osbp 34 16 35
  • 88.78 (n)
cow
(Bos Taurus)
Mammalia OSBP 34 35
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBP 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBP 35
  • 90 (a)
OneToOne
LOC101747893 34
  • 78.17 (n)
lizard
(Anolis carolinensis)
Reptilia OSBP 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbp 34
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii osbp 34 35
  • 68.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Osbp 36 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47D3A.17a 36
  • 46 (a)
Y47D3A.17b 36
  • 45 (a)
obr-1 35
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWH1 35 37
  • 20 (a)
ManyToMany
OSH2 35
  • 19 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP2A 34
  • 46.51 (n)
rice
(Oryza sativa)
Liliopsida Os08g0154900 34
  • 46.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2F12.05c 34
  • 51.5 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00579 34
  • 47.06 (n)
Species where no ortholog for OSBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OSBP Gene

ENSEMBL:
Gene Tree for OSBP (if available)
TreeFam:
Gene Tree for OSBP (if available)

Paralogs for OSBP Gene

Paralogs for OSBP Gene

(3) SIMAP similar genes for OSBP Gene using alignment to 2 proteins:

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

Variants for OSBP Gene

Sequence variations from dbSNP and Humsavar for OSBP Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036099 A colorectal cancer sample
rs10896984 -- 59,583,990(+) GCCCA(A/G)ACTGG intron-variant
rs10896985 -- 59,588,849(+) AAAAT(A/G)CAAAA intron-variant
rs111436555 -- 59,606,464(+) ACTTA(A/T)AAGTG intron-variant
rs111447427 -- 59,579,383(+) GGCTG(C/G)AGTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv555149 CNV loss 21841781
nsv555148 CNV loss 21841781
esv26905 CNV loss 19812545

Variation tolerance for OSBP Gene

Residual Variation Intolerance Score: 8.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OSBP Gene

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

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

Disorders for OSBP Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBP Gene - From: GeneCards

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards
Search OSBP in MalaCards View complete list of genes associated with diseases

Relevant External Links for OSBP

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

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

Publications for OSBP Gene

  1. Electrostatic interaction between oxysterol-binding protein and VAMP- associated protein A revealed by NMR and mutagenesis studies. (PMID: 20178991) Furuita K. … Kojima C. (J. Biol. Chem. 2010) 3 4 22 64
  2. OSBP is a cholesterol-regulated scaffolding protein in control of ERK 1/2 activation. (PMID: 15746430) Wang P.-Y. … Anderson R.G.W. (Science 2005) 3 4 22 64
  3. Molecular and biochemical characterization of a novel oxysterol- binding protein (OSBP2) highly expressed in retina. (PMID: 11278871) Moreira E.F. … Rodriguez I.R. (J. Biol. Chem. 2001) 3 4 22 64
  4. cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19. (PMID: 1970801) Levanon D. … Goldstein J.L. (Genomics 1990) 3 4 22 64
  5. A four-step cycle driven by PI(4)P hydrolysis directs sterol/PI(4)P exchange by the ER-Golgi tether OSBP. (PMID: 24209621) Mesmin B. … Antonny B. (Cell 2013) 3 4 64

Products for OSBP Gene

Sources for OSBP Gene

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