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Aliases for OSBP Gene

Aliases for OSBP Gene

  • Oxysterol Binding Protein 2 3 5
  • OSBP1 3 4

External Ids for OSBP Gene

Previous GeneCards Identifiers for OSBP Gene

  • GC11M061735
  • GC11M060855
  • 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 Sphingolipid metabolism. GO annotations related to this gene include protein domain specific binding and oxysterol binding. An important paralog of this gene is OSBPL7.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around OSBP on UCSC Golden Path with GeneCards custom track

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

Proteomics data for OSBP Gene at MOPED

Post-translational modifications for OSBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains 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: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

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
Jensen Localization Image for OSBP Gene COMPARTMENTS Subcellular localization image for OSBP gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
endoplasmic reticulum 4
endosome 2
peroxisome 2
plasma membrane 2
cytoskeleton 1
lysosome 1
mitochondrion 1
vacuole 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:0005737 cytoplasm IDA 21988961
GO:0005794 Golgi apparatus IDA --
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

Pathways by source for OSBP Gene

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:0015918 sterol transport IDA 24209621
genes like me logo Genes that share ontologies with OSBP: view

Drugs & Compounds for OSBP Gene

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

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

(6) 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:

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 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, MOPED, and MaxQB for OSBP Gene



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

Protein tissue co-expression partners for OSBP Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia OSBP 35
  • 84.49 (n)
  • 93.05 (a)
OSBP 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBP 35
  • 90.14 (n)
  • 94.98 (a)
OSBP 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbp 35
  • 88.78 (n)
  • 93.66 (a)
Osbp 16
Osbp 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OSBP 35
  • 99.79 (n)
  • 99.88 (a)
OSBP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbp 35
  • 92.08 (n)
  • 98.68 (a)
oppossum
(Monodelphis domestica)
Mammalia OSBP 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBP 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101747893 35
  • 78.17 (n)
  • 91.04 (a)
OSBP 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBP 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbp 35
  • 70.78 (n)
  • 81.28 (a)
zebrafish
(Danio rerio)
Actinopterygii osbp 35
  • 68.62 (n)
  • 75.66 (a)
osbp 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Osbp 37
  • 45 (a)
Osbp 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y47D3A.17a 37
  • 46 (a)
Y47D3A.17b 37
  • 45 (a)
obr-1 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH2 36
  • 19 (a)
ManyToMany
SWH1 38
SWH1 36
  • 20 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP2A 35
  • 46.51 (n)
  • 37.01 (a)
rice
(Oryza sativa)
Liliopsida Os08g0154900 35
  • 46.26 (n)
  • 38.13 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00579 35
  • 47.06 (n)
  • 37.96 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2F12.05c 35
  • 51.5 (n)
  • 45.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for OSBP:
  • 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
rs519535 -- 59,588,323(-) CTCCT(C/G)ACCTC intron-variant
rs536910 -- 59,579,095(+) ATACA(C/T)GTAGC intron-variant
rs550822 -- 59,587,207(-) cccca(C/T)ttttg intron-variant
rs552053 -- 59,591,640(-) tcctc(A/C)aaaaa intron-variant

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

Variant ID Type Subtype PubMed ID
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

HapMap Linkage Disequilibrium report
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. 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 23 67
  2. 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 23
  3. The N terminus controls sterol binding while the C terminus regulates the scaffolding function of OSBP. (PMID: 18165705) Wang P.Y. … Anderson R.G. (J. Biol. Chem. 2008) 3 23
  4. Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein. (PMID: 16571669) Perry R.J. … Ridgway N.D. (Mol. Biol. Cell 2006) 3 23
  5. 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 23

Products for OSBP Gene

Sources for OSBP Gene

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