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OSBPL5 Gene

protein-coding   GIFtS: 60
GCID: GC11M003108

Oxysterol Binding Protein-Like 5

  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 51 2     KIAA15343 5
ORP52 3 5     Oxysterol-Binding Protein Homologue 12
Oxysterol-Binding Protein Homolog 12 3     Oxysterol-Binding Protein-Related Protein 52
OBPH12 3     EC 1.2.18
ORP-52 3     EC 2.7.7.68
OSBP-Related Protein 52 3     

External Ids:    HGNC: 163921   Entrez Gene: 1148792   Ensembl: ENSG000000217627   OMIM: 6067335   UniProtKB: Q9H0X93   

Export aliases for OSBPL5 gene to outside databases

Previous GC identifers: GC11M003167 GC11M003359 GC11M003072 GC11M003064 GC11M002896


(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 OSBPL5 Gene:
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid
receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an
N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This
gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta.
Transcript variants encoding different isoforms have been identified. (provided by RefSeq, Oct 2010)

GeneCards Summary for OSBPL5 Gene:
OSBPL5 (oxysterol binding protein-like 5) is a protein-coding gene. Diseases associated with OSBPL5 include adult syndrome, and alcohol dependence. GO annotations related to this gene include phospholipid binding and oxysterol binding. An important paralog of this gene is OSBPL10.

UniProtKB/Swiss-Prot: OSBL5_HUMAN, Q9H0X9
Function: May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes

Gene Wiki entry for OSBPL5 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_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSBPL5 gene promoter:
         FOXO3b   C/EBPalpha   NF-AT   N-Myc   FAC1   NF-AT4   NF-AT2   FOXO4   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSBPL5 promoter sequence
   Search Chromatin IP Primers for OSBPL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSBPL5


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

OSBPL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSBPL5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M003108:  view genomic region     (about GC identifiers)

Start:
3,108,346 bp from pter      End:
3,187,969 bp from pter
Size:
79,624 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OSBL5_HUMAN, Q9H0X9 (See protein sequence)
Recommended Name: Oxysterol-binding protein-related protein 5  
Size: 879 amino acids; 98616 Da
Miscellaneous: The gene is imprinted in placenta, where it is predominantly expressed from the maternal allele
only. Not imprinted in other tissues
Sequence caution: Sequence=BAA96058.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Secondary accessions: A6NDP0 A6NJS8 Q54A90 Q8N596 Q9BZB0 Q9P1Z4
Alternative splicing: 2 isoforms:  Q9H0X9-1   Q9H0X9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OSBPL5: NX_Q9H0X9

Explore proteomics data for OSBPL5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys402
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for OSBPL5 (Q9H0X9)
     TLELGGK  AVKGPKG 


    See OSBPL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001137535.1  NP_065947.1  NP_663613.1  

    ENSEMBL proteins: 
     ENSP00000437141   ENSP00000263650   ENSP00000374639   ENSP00000431412   ENSP00000433342  
     ENSP00000434265   ENSP00000302872   ENSP00000436950   ENSP00000433754   ENSP00000435812  
     ENSP00000432507   ENSP00000433222   ENSP00000441551  

    OSBPL5 Human Recombinant Protein Products:

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    Novus Biologicals OSBPL5 Protein
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    Cloud-Clone Corp. Proteins for OSBPL5

    OSBPL5 Antibody Products:

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    Cloud-Clone Corp. CLIAs for OSBPL5


    (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 Q9H0X9

    ProtoNet protein and cluster: Q9H0X9

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


    UniProtKB/Swiss-Prot: OSBL5_HUMAN, Q9H0X9
    Similarity: Belongs to the OSBP family
    Similarity: Contains 1 PH domain


    OSBPL5 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OSBL5_HUMAN, Q9H0X9
    Function: May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes

         Enzyme Numbers (IUBMB): EC 1.2.12 EC 2.7.7.62

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008142oxysterol binding NAS10588946
    GO:0015485cholesterol binding IDA17428193
         
    OSBPL5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OSBPL5:
     Decreased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OSBPL5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OSBPL5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OSBPL5

    miRNA
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    Block miRNA regulation of human, mouse, rat OSBPL5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OSBPL5 (see all 31):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-661
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL5

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    OriGene clones in human, mouse for OSBPL5 (see all 19)
    OriGene ORF clones in mouse, rat for OSBPL5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): OSBPL5 (NM_020896)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSBPL5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSBPL5

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL5


    (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
    OSBL5_HUMAN, Q9H0X9: Endoplasmic reticulum membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    endosome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol NAS10588946
    GO:0016021integral component of membrane IEA--

    OSBPL5 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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        Pathway & Disease-focused RT2 Profiler PCR Array including OSBPL5: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OSBPL5

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

    Selected Interacting proteins for OSBPL5 (Q9H0X93 ENSP000002636504) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005193, ENSP000003614234I2D: score=2 STRING: ENSP00000361423
    NPC1O151183, ENSP000002692284I2D: score=1 STRING: ENSP00000269228
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    SQSTM1Q135013I2D: score=1 
    PI4KBENSP000002716574STRING: ENSP00000271657
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport ----
    GO:0006893Golgi to plasma membrane transport NAS10588946
    GO:0008203cholesterol metabolic process NAS10588946
    GO:0030301cholesterol transport NAS10588946

    OSBPL5 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 OSBPL5 (OSBL5)



    (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,
    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 OSBPL5 gene (3 alternative transcripts): 
    NM_001144063.1  NM_020896.3  NM_145638.2  

    Unigene Cluster for OSBPL5:

    Oxysterol binding protein-like 5
    Hs.436166  [show with all ESTs]
    Unigene Representative Sequence: NM_020896
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000478260(uc001lxj.2) ENST00000263650(uc010qxq.1 uc001lxk.2 uc009ydw.2 uc001lxl.2)
    ENST00000389989 ENST00000534454 ENST00000498536 ENST00000525498 ENST00000471998
    ENST00000348039 ENST00000534491(uc009ydx.3) ENST00000532951 ENST00000459995
    ENST00000533234 ENST00000465323 ENST00000477622 ENST00000526122(uc001lxm.1)
    ENST00000530372 ENST00000533721 ENST00000534157
    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate OSBPL5 (see all 31):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-661
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for OSBPL5
    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL5
    Clone
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    OriGene ORF clones in mouse, rat for OSBPL5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): OSBPL5 (NM_020896)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSBPL5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSBPL5
    Primer
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    OriGene qPCR primer pairs and template standards for OSBPL5
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL5
      QuantiTect SYBR Green Assays in human, mouse, rat OSBPL5
      QuantiFast Probe-based Assays in human, mouse, rat OSBPL5

    Additional mRNA sequence: 

    AB074006.1 AF392453.1 AF410430.1 AK055617.1 AK056510.1 AK124919.1 AK293000.1 AK297475.1 
    AK301003.1 AK303205.1 AK309411.1 AL136918.1 BC017505.1 BC032646.1 BC039579.1 

    8 DOTS entries:

    DT.111257  DT.97864131  DT.101960341  DT.95371871  DT.75160483  DT.120713661  DT.91857490  DT.120713673 

    Selected AceView cDNA sequences (see all 117):

    CR598808 BM463634 AW276049 CR593884 CB961321 AA835809 AL526548 BQ933320 
    CA393707 BM705476 BI035888 BM676569 AA463521 CA311223 CR619585 BF436549 
    BU730568 CR617583 BX386681 BQ016643 AB074006 AI061267 AF410430 BX325686 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL5 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^
    SP1:                                -     -     -     -     -     -                 -                             -                                             
    SP2:                          -     -     -     -     -     -     -                 -                             -     -     -                                 
    SP3:                                                                                                                                                            
    SP4:                                -     -     -     -     -     -                 -                             -     -     -                                 
    SP5:                                -     -     -     -     -     -                 -                             -                                             

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b
    SP1:                                -                                   -                           
    SP2:                                -                                   -                           
    SP3:                                                                    -                           
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for OSBPL5

    (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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    OSBPL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGATGGAT
    OSBPL5 Expression
    About this image


    OSBPL5 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
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    OSBPL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSBPL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436166

    UniProtKB/Swiss-Prot: OSBL5_HUMAN, Q9H0X9
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including OSBPL5: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for OSBPL5
    OriGene qSTAR qPCR primer pairs in human, mouse for OSBPL5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL5
    QuantiTect SYBR Green Assays in human, mouse, rat OSBPL5
    QuantiFast Probe-based Assays in human, mouse, rat OSBPL5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL5

    (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 eukaryotes.

    Orthologs for OSBPL5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osbpl51 , 5 oxysterol binding protein-like 51, 5 83.16(n)1
    85.34(a)1
      7 (88.29 cM)5
    791961  NM_024289.21  NP_077251.11 
     1436887625 
    chicken
    (Gallus gallus)
    Aves OSBPL51 oxysterol binding protein-like 5 70.11(n)
    72.99(a)
      770816  XM_004941437.1  XP_004941494.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSBPL56
    oxysterol binding protein-like 5
    70(a)
    1 ↔ 1
    1(68455131-68527757)
    zebrafish
    (Danio rerio)
    Actinopterygii osbpl51 oxysterol binding protein-like 5 63.91(n)
    61.42(a)
      100006189  XM_005170705.1  XP_005170762.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50773 oxysterol binding 51(a)   92E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea obr-36
    Protein OBR-3, isoform b (obr-3) mRNA, complete cd...
    46(a)
    1 → many
    X(13798315-13809857) WBGene00014215
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OSH7(YHR001W)4
    OSH61
    Member of an oxysterol-binding protein family with more4
    OSH61
    44.34(n)1
    37.54(a)1
      8(106055-107368)4
    8538721  NP_012928.11  8563894 
     NP_011863.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ORP4B1 ORP4B 45.34(n)
    34.47(a)
      828691  NM_001203913.1  NP_001190842.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05177001 Os08g0517700 44.97(n)
    31.43(a)
      4346042  NM_001068780.1  NP_001062245.1 


    ENSEMBL Gene Tree for OSBPL5 (if available)
    TreeFam Gene Tree for OSBPL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OSBPL5 gene
    OSBPL102  OSBPL92  OSBPL82  OSBPL112  
    5 SIMAP similar genes for OSBPL5 using alignment to 11 protein entries:     OSBL5_HUMAN (see all proteins):
    pp14733    OSBPL8    DKFZp686C0249    OSBPL2    OSBPL9

    OSBPL5 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)
    About This Section

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    Selected SNPs for OSBPL5 (see all 2351)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903073791,2
    --3041178(+) AGCCAA/GGGGGG 3 -- ds50010--------
    rs1825311841,2
    --3041205(+) GGCAGC/TATTGG 3 -- ds50010--------
    rs618701951,2
    C,F--3041276(+) AGTGTC/TACTCT 3 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1489980061,2
    --3041314(+) GGGACA/GCCAGC 3 -- ds50010--------
    rs1173441321,2
    F--3041319(+) GCCAGC/TCTCCC 3 -- ds50011Minor allele frequency- T:0.01NA 120
    rs37413571,2
    C,F,H--3041356(-) GCTGTG/AGGCAG 3 -- ds50015Minor allele frequency- A:0.02EA NS 1918
    rs1382817221,2
    --3041459(+) CCTCTC/TGTTTC 3 -- ds50010--------
    rs88131,2
    C,F,O,H--3041640(-) ATATAC/TGTACA 3 -- ut31 ese320Minor allele frequency- T:0.16MN NS EA NA 2572
    rs1438764641,2
    C--3041648(+) TATATA/TTGTGT 3 -- ut310--------
    rs1875283081,2
    C--3041668(+) CACACA/GCGCAC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for OSBPL5 (3108346 - 3187969 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for OSBPL5 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744027CNV Deletion23290073
    esv2667939CNV Deletion23128226
    esv2741616CNV Deletion23290073
    esv2744028CNV Deletion23290073
    esv2743221CNV Deletion23290073
    esv4946CNV Deletion18987735
    nsv509384CNV Insertion20534489
    esv1583615CNV Insertion17803354
    nsv8766CNV Loss18304495
    nsv896880CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OSBPL5
    DNA2.0 Custom Variant and Variant Library Synthesis for OSBPL5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606733    OMIM disorders: --

    5 diseases for OSBPL5:    
    About MalaCards
    adult syndrome    alcohol dependence    pancreatic cancer    pancreatitis
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for OSBPL5:
    ADULT syndrome

    OSBPL5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSBPL5
    Human Genome Epidemiology (HuGE) Navigator: OSBPL5 (1 document)

    Export disorders for OSBPL5 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 OSBPL5 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with OSBPL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking. (PubMed id 21220512)1, 2 Du X.... Yang H. (J. Cell Biol. 2011)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse. (PubMed id 12504849)1, 2 Higashimoto K.... Mukai T. (Genomics 2002)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    6. A family of 12 human genes containing oxysterol-binding domains. (PubMed id 11735225)1, 2 Jaworski C.J.... Rodriguez I.R. (Genomics 2001)
    7. The OSBP-related protein family in humans. (PubMed id 11483621)1, 2 Lehto M.... Olkkonen V.M. (J. Lipid Res. 2001)
    8. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    9. Oxysterol binding protein-related protein-5 is related to invasion and poor prognosis in pancreatic cancer. (PubMed id 19032366)1, 9 Koga Y....Baba H. (Cancer Sci. 2008)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114879 HGNC: 16392 AceView: OSBPL5 Ensembl:ENSG00000021762 euGenes: HUgn114879
    ECgene: OSBPL5 H-InvDB: OSBPL5

    (According to HUGE)
    About This Section

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    HUGE: KIAA1534

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OSBPL5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for OSBPL5 gene:
    Search GeneIP for patents involving OSBPL5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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