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OSBPL11 Gene

protein-coding   GIFtS: 52
GCID: GC03M125278

Oxysterol Binding Protein-Like 11

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Oxysterol Binding Protein-Like 111 2     OSBP-Related Protein 112 3
ORP112 3 5     TCCCIA002922
ORP-112 3     Oxysterol-Binding Protein-Related Protein 112
OSBP122 3     

External Ids:    HGNC: 163971   Entrez Gene: 1148852   Ensembl: ENSG000001449097   OMIM: 6067395   UniProtKB: Q9BXB43   

Export aliases for OSBPL11 gene to outside databases

Previous GC identifers: GC03M122014 GC03M126529 GC03M126568 GC03M126730 GC03M122623


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OSBPL11 Gene:
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid
receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly
conserved C-terminal OSBP-like sterol-binding domain. (provided by RefSeq, Jul 2008)

GeneCards Summary for OSBPL11 Gene:
OSBPL11 (oxysterol binding protein-like 11) is a protein-coding gene. Diseases associated with OSBPL11 include cardiovascular disease risk factor, and brain cancer. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is OSBPL10.

Gene Wiki entry for OSBPL11 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSBPL11 gene promoter:
         RFX1   GCNF   NCX/Ncx   Brachyury   Tal-1beta   E2F   E2F-1   GCNF-1   IRF-7A   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSBPL11 promoter sequence
   Search Chromatin IP Primers for OSBPL11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSBPL11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21   Ensembl cytogenetic band:  3q21.2   HGNC cytogenetic band: 3q21

OSBPL11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSBPL11 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M125278:  view genomic region     (about GC identifiers)

Start:
125,247,702 bp from pter      End:
125,314,381 bp from pter
Size:
66,680 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OSB11_HUMAN, Q9BXB4 (See protein sequence)
Recommended Name: Oxysterol-binding protein-related protein 11  
Size: 747 amino acids; 83643 Da
Subunit: Heterodimer with OSBPL9
1 PDB 3D structure from and Proteopedia for OSBPL11:
2D9X (3D)    
Secondary accessions: A8K9I7

Explore the universe of human proteins at neXtProt for OSBPL11: NX_Q9BXB4

Explore proteomics data for OSBPL11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys395
  • Modification sites at PhosphoSitePlus

  • See OSBPL11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073613.2  
    ENSEMBL proteins: 
     ENSP00000296220  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    OSBP: Oxysterol binding proteins
    PLEKH: Pleckstrin homology (PH) domain containing

    4 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000648 Oxysterol-bd
     IPR018494 Oxysterol-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q9BXB4

    ProtoNet protein and cluster: Q9BXB4

    2 Blocks protein domains:
    IPB000648 Oxysterol-binding protein
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: OSB11_HUMAN, Q9BXB4
    Domain: The PH domain binds phosphoinositides (PubMed:20599956)
    Similarity: Belongs to the OSBP family
    Similarity: Contains 1 PH domain


    OSBPL11 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    OSBPL11 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    Block miRNA regulation of human, mouse, rat OSBPL11 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OSBPL11 (see all 53):
    hsa-miR-548j hsa-miR-3194-5p hsa-miR-429 hsa-miR-513a-5p hsa-miR-200a hsa-miR-141 hsa-miR-124 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL11 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OSB11_HUMAN, Q9BXB4: Late endosome membrane. Golgi apparatus, trans-Golgi network membrane. Note=Localizes at the
    Golgi-late endosome interface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0031902late endosome membrane IEA--

    OSBPL11 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OSBPL11
    Interactions:

        Search GeneGlobe Interaction Network for OSBPL11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OSBPL11 (Q9BXB43 ENSP000002962204) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OSBPL9Q96SU43, ENSP000003372654I2D: score=2 STRING: ENSP00000337265
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    AIFM1ENSP000002872954STRING: ENSP00000287295
    BCS1LENSP000003522194STRING: ENSP00000352219
    COL4A3BPENSP000003698624STRING: ENSP00000369862
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--
    GO:0010890positive regulation of sequestering of triglyceride IMP--
    GO:0045444fat cell differentiation IMP--

    OSBPL11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OSBPL11 (OSB11)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OSBPL11 gene: 
    NM_022776.4  

    Unigene Cluster for OSBPL11:

    Oxysterol binding protein-like 11
    Hs.477440  [show with all ESTs]
    Unigene Representative Sequence: NM_022776
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000296220(uc003eic.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OSBPL11 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OSBPL11 (see all 53):
    hsa-miR-548j hsa-miR-3194-5p hsa-miR-429 hsa-miR-513a-5p hsa-miR-200a hsa-miR-141 hsa-miR-124 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL11 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for OSBPL11
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL11
      QuantiTect SYBR Green Assays in human, mouse, rat OSBPL11
      QuantiFast Probe-based Assays in human, mouse, rat OSBPL11

    Additional mRNA sequence: 

    AF346292.1 AF392454.1 AK023074.1 AK023226.1 AK292702.1 AY007102.1 BC010422.1 BC065213.1 

    6 DOTS entries:

    DT.454728  DT.120840226  DT.91909903  DT.75102759  DT.91731793  DT.99988080 

    Selected AceView cDNA sequences (see all 163):

    BQ416659 AA169886 AI823888 AI678143 AA286843 AA807639 AI814455 BE299160 
    AA779447 AI400454 AA393837 BC065213 AI655985 AA665974 AI431835 AY007102 
    CA425413 AI360060 N41739 AA026294 AI570715 AW166211 AI864665 AI074532 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OSBPL11 expression in normal human tissues (normalized intensities)      OSBPL11 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    OSBPL11 Expression
    About this image


    OSBPL11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
     
     Brain (Nervous System)
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
    OSBPL11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSBPL11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477440

    UniProtKB/Swiss-Prot: OSB11_HUMAN, Q9BXB4
    Tissue specificity: Present at highest levels in ovary, testis, kidney, liver, stomach, brain, and adipose tissue.
    Strong expression (at protein level) in epithelial cells of kidney tubules, testicular tubules, caecum, and skin

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for OSBPL11 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osbpl111 , 5 oxysterol binding protein-like 111, 5 86.73(n)1
    91.55(a)1
      16 (23.71 cM)5
    1063261  NM_176840.31  NP_789810.21 
     331850715 
    chicken
    (Gallus gallus)
    Aves OSBPL111 oxysterol binding protein-like 11 77.23(n)
    84.23(a)
      424262  XM_004942956.1  XP_004943013.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSBPL116
    oxysterol binding protein-like 11
    79(a)
    1 ↔ 1
    1(77633295-77701141)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.137822 Xenopus laevis transcribed sequence with moderate similarity more 73.01(n)    BJ083704.1 
    zebrafish
    (Danio rerio)
    Actinopterygii osbpl111 oxysterol binding protein-like 11 67.41(n)
    73.43(a)
      560514  XM_683921.5  XP_689013.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92056
    --
    37(a)
    1 → many
    3L(1034697-1036298)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OSH76
    OSH66
    Member of an oxysterol-binding protein family with...
    Member of an oxysterol-binding protein family with...
    30(a)
    27(a)
    many ↔ many
    many ↔ many
    VIII(106055-107368) YHR001W
    XI(445381-446727) YKR003W


    ENSEMBL Gene Tree for OSBPL11 (if available)
    TreeFam Gene Tree for OSBPL11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OSBPL11 gene
    OSBPL102  OSBPL92  OSBPL52  OSBPL82  
    2 SIMAP similar genes for OSBPL11 using alignment to 1 protein entry:     OSB11_HUMAN:
    OSBPL10    OSBPL9

    OSBPL11 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OSBPL11 (see all 1471)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361004
    A breast cancer sample4--see VAR_0361002 S L mis40--------
    rs1443948691,2
    --122691209(+) AGGCAA/CCAGAG 1 -- us2k10--------
    rs1445966011,2
    C--122691229(+) GTCTC-/AAAAAA 1 -- us2k10--------
    rs1892844801,2
    --122691230(+) TCTCAA/GAAAAA 1 -- us2k10--------
    rs46794131,2
    C,F,H--122691295(+) ctatcT/Caaagg 1 -- us2k111Minor allele frequency- C:0.12NS EA NA WA CSA 770
    rs46794141,2
    C,F,H--122691349(+) tactgG/Aaggac 1 -- us2k114Minor allele frequency- A:0.47NA WA CSA EA 516
    rs1927620581,2
    --122691522(+) CCTGGC/TCAACA 1 -- us2k10--------
    rs1862832651,2
    --125247230(+) CAAGAC/TCAGTC 1 -- ds50010--------
    rs68044311,2
    C,F,A,H--125247295(+) tggtgG/Ttgtgt 1 -- ds500123Minor allele frequency- T:0.40NS EA NA WA CSA 2345
    rs1906087001,2
    --125247341(+) AATGAC/TTGGTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for OSBPL11 (125247702 - 125314381 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OSBPL11:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507123CNV Insertion20534489
    nsv829713CNV Gain17160897
    nsv829714CNV Gain17160897
    nsv10311CNV Gain18304495

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606739    OMIM disorders: --

    6 diseases for OSBPL11:    About MalaCards
    cardiovascular disease risk factor    brain cancer    breast and colorectal cancer    obesity
    colorectal cancer    neuronitis


    OSBPL11 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSBPL11
    Human Genome Epidemiology (HuGE) Navigator: OSBPL11 (4 documents)

    Export disorders for OSBPL11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OSBPL11 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with OSBPL11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of OSBPL11 gene polymorphisms with cardiovascular disease risk factors in obesity. (PubMed id 19325544)1, 4, 9 Bouchard L....Vohl M.C. (Obesity (Silver Spring) 2009)
    2. OSBP-related protein 11 (ORP11) dimerizes with ORP9 and localizes at the Golgi-late endosome interface. (PubMed id 20599956)1, 2 Zhou Y....Olkkonen V.M. (Exp. Cell Res. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The OSBP-related protein family in humans. (PubMed id 11483621)1, 2 Lehto M.... Olkkonen V.M. (J. Lipid Res. 2001)
    9. A family of 12 human genes containing oxysterol-binding domains. (PubMed id 11735225)1, 2 Jaworski C.J.... Rodriguez I.R. (Genomics 2001)
    10. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114885 HGNC: 16397 AceView: OSBPL11 Ensembl:ENSG00000144909 euGenes: HUgn114885
    ECgene: OSBPL11 H-InvDB: OSBPL11

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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OSBPL11 Pharmacogenomics, SNPs, Pathways

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