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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
  • GC11M059578
  • GC11M059582
  • GC11M059585

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 Robinow Syndrome, Autosomal Dominant 2 and Amyotrophic Lateral Sclerosis 8. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (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

Additional gene information for OSBP Gene

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

Genomics for OSBP Gene

GeneHancer (GH) Regulatory Elements for OSBP Gene

Promoters and enhancers for OSBP 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
GH11I059610 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.8 +2.1 2060 8.2 HDGF FOXA2 PKNOX1 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 OSBP ENSG00000255008 MS4A2 FAM111A-DT LOC101927226 STX3 MIR3162
GH11I059753 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.2 -139.5 -139543 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 CBX5 E2F8 STX3 ENSG00000254477 PATL1 LOC101927226 MS4A6A OSBP FABP5P7 GC11P059703
GH11I059688 Enhancer 0.4 ENCODE 10.6 -72.8 -72809 1.1 MITF NFIC LOC101927226 OSBP OR4D6 GC11P059703 LOC105369318
GH11I059288 Enhancer 1 FANTOM5 Ensembl dbSUPER 2.9 +326.9 326893 1.7 RXRA MAX CREB1 ZSCAN29 HNF4A YY1 SPI1 LOC643709 OR5A2 GLYATL1 OR5AN1 OR4D6 OSBP DTX4 SLC25A47P1
GH11I059271 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.8 +343.2 343182 2.9 PKNOX1 BMI1 BATF KLF5 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 STX3 PATL1 MPEG1 OSBP FAM111A GC11M059264 ENSG00000214797 SLC25A47P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSBP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSBP gene promoter:

Genomic Locations for OSBP Gene

Genomic Locations for OSBP Gene
chr11:59,574,398-59,616,144
(GRCh38/hg38)
Size:
41,747 bases
Orientation:
Minus strand
chr11:59,341,871-59,383,617
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for OSBP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSBP Gene

Domains & Families for OSBP Gene

Gene 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.
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 TAS --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OSBP

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
lysosome 2
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Nucleus (3)
See all subcellular structures

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 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:0006699 bile acid biosynthetic process TAS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OSBP

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 CGAP 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.

Evidence on tissue expression from TISSUES for OSBP Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Blood(4.3)
  • Nervous system(2.6)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.79 (n)
rat
(Rattus norvegicus)
Mammalia Osbp 33
  • 92.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OSBP 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBP 33 34
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Osbp 33 16 34
  • 88.78 (n)
cow
(Bos Taurus)
Mammalia OSBP 33 34
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBP 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBP 34
  • 90 (a)
OneToOne
LOC101747893 33
  • 78.17 (n)
lizard
(Anolis carolinensis)
Reptilia OSBP 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbp 33
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii osbp 33 34
  • 68.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Osbp 35 34
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47D3A.17a 35
  • 46 (a)
Y47D3A.17b 35
  • 45 (a)
obr-1 34
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWH1 34 36
  • 20 (a)
ManyToMany
OSH2 34
  • 19 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP2A 33
  • 46.51 (n)
rice
(Oryza sativa)
Liliopsida Os08g0154900 33
  • 46.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2F12.05c 33
  • 51.5 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00579 33
  • 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 Variation AA Info Type
VAR_036099 A colorectal cancer sample p.Asp278Ala
rs1000135453 -- 59,586,500(-) T/C intron_variant
rs1000154666 -- 59,584,453(-) G/A intron_variant
rs1000227026 -- 59,585,906(-) T/A intron_variant
rs1000233994 -- 59,603,016(-) A/C intron_variant

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

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

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)

Additional Variant Information for OSBP Gene

Human Gene Mutation Database (HGMD)
OSBP
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

(3) MalaCards diseases for OSBP Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search OSBP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OSBP

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 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 (The Journal of biological chemistry 2010) 3 4 22 58
  2. OSBP is a cholesterol-regulated scaffolding protein in control of ERK 1/2 activation. (PMID: 15746430) Wang PY … Anderson RG (Science (New York, N.Y.) 2005) 3 4 22 58
  3. Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina. (PMID: 11278871) Moreira EF … Rodriguez IR (The Journal of biological chemistry 2001) 3 4 22 58
  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 JL (Genomics 1990) 3 4 22 58
  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 58

Products for OSBP Gene

  • Addgene plasmids for OSBP

Sources for OSBP Gene

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