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OSBPL1A Gene

protein-coding   GIFtS: 63
GCID: GC18M021742

Oxysterol Binding Protein-Like 1A

(Previous name: oxysterol binding protein-like 1B)
(Previous symbol: OSBPL1B)
  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 1A1 2     Oxysterol-Binding Protein-Related Protein 12
OSBPL1B1 2 3     Oxysterol-Binding Protein-Related Protein 1 Variant 12
ORP12 3 5     Oxysterol-Binding Protein-Related Protein 1 Variant 22
Oxysterol Binding Protein-Like 1B1 2     OSBP83
ORP-12 3     OSBPL13
OSBP-Related Protein 12 3     

External Ids:    HGNC: 163981   Entrez Gene: 1148762   Ensembl: ENSG000001414477   OMIM: 6067305   UniProtKB: Q9BXW63   

Export aliases for OSBPL1A gene to outside databases

Previous GC identifers: GC18M021634 GC18M021473 GC18M019994 GC18M019993 GC18M019996 GC18M018598


(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 OSBPL1A Gene:
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid
receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal
OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript
variants derived from alternative promoter usage and/or alternative splicing exist; they encode different
isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for OSBPL1A Gene:
OSBPL1A (oxysterol binding protein-like 1A) is a protein-coding gene. Diseases associated with OSBPL1A include osteoporosis, and cerebritis. GO annotations related to this gene include phospholipid binding and cholesterol binding. An important paralog of this gene is OSBP.

UniProtKB/Swiss-Prot: OSBL1_HUMAN, Q9BXW6
Function: Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to
phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and
alters functional properties of late endocytic compartments via its interaction with RAB7A

Gene Wiki entry for OSBPL1A 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_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSBPL1A gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): OSBPL1A promoter sequence
   Search Chromatin IP Primers for OSBPL1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSBPL1A


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

Entrez Gene cytogenetic band: 18q11.1   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

OSBPL1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSBPL1A gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M021742:  view genomic region     (about GC identifiers)

Start:
21,742,008 bp from pter      End:
21,977,844 bp from pter
Size:
235,837 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: OSBL1_HUMAN, Q9BXW6 (See protein sequence)
Recommended Name: Oxysterol-binding protein-related protein 1  
Size: 950 amino acids; 108470 Da
Subunit: Interacts with VAPA (By similarity). Interacts with the GTP-bound form of RAB7A. Interacts with OAS1B (By
similarity)
Sequence caution: Sequence=AAG53407.2; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites;
Secondary accessions: B7Z7D3 Q9BZF5 Q9NW87
Alternative splicing: 3 isoforms:  Q9BXW6-1   Q9BXW6-2   Q9BXW6-4   

Explore the universe of human proteins at neXtProt for OSBPL1A: NX_Q9BXW6

Explore proteomics data for OSBPL1A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See OSBPL1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229437.1  NP_060500.3  NP_542164.2  

    ENSEMBL proteins: 
     ENSP00000320291   ENSP00000382372   ENSP00000349545   ENSP00000464617   ENSP00000462155  
     ENSP00000464541   ENSP00000463452   ENSP00000462887   ENSP00000462477   ENSP00000382370  
    Reactome Protein details: Q9BXW6

    OSBPL1A Human Recombinant Protein Products:

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    OSBPL1A Assay Products:

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    Cloud-Clone Corp. CLIAs for OSBPL1A


    (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
    ANKRD: Ankyrin repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt
     IPR000648 Oxysterol-bd
     IPR018494 Oxysterol-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q9BXW6

    ProtoNet protein and cluster: Q9BXW6

    3 Blocks protein domains:
    IPB000648 Oxysterol-binding protein
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: OSBL1_HUMAN, Q9BXW6
    Similarity: Belongs to the OSBP family
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 PH domain


    OSBPL1A 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: OSBL1_HUMAN, Q9BXW6
    Function: Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to
    phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and
    alters functional properties of late endocytic compartments via its interaction with RAB7A

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16176980
    GO:0005543phospholipid binding NAS11279184
    GO:0015485cholesterol binding IDA17428193
         
    OSBPL1A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for OSBPL1A:
     Decreased cilium length  Decreased cilium length after  

         1 MGI phenotypic allele for Osbpl1a (no phenotypes)

    OSBPL1A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OSBPL1A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OSBPL1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OSBPL1A

    miRNA
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    miRTarBase miRNAs that target OSBPL1A:
    hsa-mir-340-5p (MIRT019536), hsa-mir-21-5p (MIRT030733), hsa-mir-146a-5p (MIRT021270)

    Block miRNA regulation of human, mouse, rat OSBPL1A using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate OSBPL1A:
    hsa-miR-203 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL1A 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL1A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): OSBPL1A (NM_080597)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSBPL1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSBPL1A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSBPL1A


    (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
    OSBL1_HUMAN, Q9BXW6: Late endosome. Note=Colocalizes with RAB7A, RAB9A and LAMP1 in late endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol4
    lysosome4
    nucleus4
    vacuole4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC11279184
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane TAS--

    OSBPL1A 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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    SuperPaths for OSBPL1A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    2MHC class II antigen presentation
    MHC class II antigen presentation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for OSBPL1A
        MHC class II antigen presentation



    OSBPL1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including OSBPL1A: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for OSBPL1A

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

    Selected Interacting proteins for OSBPL1A (Q9BXW63 ENSP000003202914) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL6P411823, ENSP000002320144I2D: score=2 STRING: ENSP00000232014
    DCTN2ENSP000004089104STRING: ENSP00000408910
    RAB7AENSP000002650624STRING: ENSP00000265062
    DCTN1ENSP000003547914STRING: ENSP00000354791
    DCTN3ENSP000002596324STRING: ENSP00000259632
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--
    GO:0008203cholesterol metabolic process NAS10588946
    GO:0016192vesicle-mediated transport NAS11279184
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    OSBPL1A 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 OSBPL1A (OSBL1)

    Selected HMDB Compounds for OSBPL1A (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(9Z))PA(36:2) (see all 10)14268-17-8--



    (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 OSBPL1A gene (4 alternative transcripts): 
    NM_001242508.1  NM_018030.4  NM_080597.3  NM_133268.1  

    Unigene Cluster for OSBPL1A:

    Oxysterol binding protein-like 1A
    Hs.370725  [show with all ESTs]
    Unigene Representative Sequence: NM_080597
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319481(uc010xbc.2 uc002kve.3 uc002kvf.3) ENST00000399443(uc002kvd.3)
    ENST00000357041 ENST00000578013 ENST00000578055 ENST00000585247 ENST00000584119
    ENST00000581043 ENST00000579851 ENST00000578091 ENST00000582645 ENST00000579764
    ENST00000582350 ENST00000399441 ENST00000582618 ENST00000581343
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate OSBPL1A:
    hsa-miR-203 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidOSBPL1A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for OSBPL1A
    Predesigned siRNA for gene silencing in human, mouse, rat OSBPL1A
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): OSBPL1A (NM_080597)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL1A
      QuantiTect SYBR Green Assays in human, mouse, rat OSBPL1A
      QuantiFast Probe-based Assays in human, mouse, rat OSBPL1A

    Additional mRNA sequence: 

    AF274714.1 AF392449.1 AF392450.1 AK096358.1 AK292895.1 AK301862.1 AK314552.1 BC007004.1 
    BC022293.1 BC041563.1 BC063420.1 BC073854.1 BC098384.1 BC136452.1 BC144117.1 

    17 DOTS entries:

    DT.87016353  DT.100785333  DT.121098044  DT.100785332  DT.100785334  DT.106801  DT.100026893  DT.121098039 
    DT.65287463  DT.121098001  DT.121098068  DT.40235162  DT.75145841  DT.75170568  DT.92008038  DT.95361850 
    DT.95328698 

    Selected AceView cDNA sequences (see all 214):

    BU543131 BU729423 BF437582 AL134482 AI018595 BQ891600 NM_080597 AF274714 
    BE271898 BC063420 AA126583 AI431667 BF509932 AA454631 BM460621 AI191875 
    AI420848 BM562751 BC073854 BM837990 BQ009149 BM703337 BC041563 AI336750 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL1A (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                    -           -                 -     -                       -     -                                         -           -               
    SP2:                    -           -                 -     -                       -     -                                         -           -               
    SP3:                    -                                                                                                                                       
    SP4:                                -                 -                                                                                                         
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
    SP1:                                                                              
    SP2:                          -     -                                             
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for OSBPL1A

    (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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    OSBPL1A expression in normal human tissues (normalized intensities)      OSBPL1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGTATCAA
    OSBPL1A Expression
    About this image


    OSBPL1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Eye (Sensory Organs)
             Retina
     
     Adipose (Muscoskeletal System)
    OSBPL1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSBPL1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370725
        Pathway & Disease-focused RT2 Profiler PCR Array including OSBPL1A: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSBPL1A
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    QuantiFast Probe-based Assays in human, mouse, rat OSBPL1A
    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 OSBPL1A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osbpl1a1 , 5 oxysterol binding protein-like 1A1, 5 87.75(n)1
    92(a)1
      18 (6.78 cM)5
    642911  NM_207530.31  NP_997413.21 
     127553145 
    chicken
    (Gallus gallus)
    Aves OSBPL1A1 oxysterol binding protein-like 1A 78.14(n)
    82.11(a)
      421079  XM_419165.4  XP_419165.2 
    lizard
    (Anolis carolinensis)
    Reptilia OSBPL1A6
    oxysterol binding protein-like 1A
    77(a)
    1 ↔ 1
    4(37775718-37881994)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.180032 Transcribed sequence with moderate similarity to protein more 80.42(n)    BX753742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii osbpl1a1 oxysterol binding protein-like 1A 67.23(n)
    70.02(a)
      565503  XM_005161723.1  XP_005161780.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38601 , 3 oxysterol binding3
    CG38601
    51(a)3
    55.77(n)1
    54.96(a)1
      378251  NM_138021.21  NP_611865.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F14H8.13 oxysterol-binding protein 34(a)   V(15014568-15016817)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YGL242C)4 Putative protein of unknown function; deletion mutant more   --   7(45197-44652) 852609  NP_011272.1 


    ENSEMBL Gene Tree for OSBPL1A (if available)
    TreeFam Gene Tree for OSBPL1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OSBPL1A gene
    OSBP2  OSBPL32  OSBPL72  OSBP22  OSBPL22  OSBPL62  
    18 SIMAP similar genes for OSBPL1A using alignment to 12 protein entries:     OSBL1_HUMAN (see all proteins):
    OSBPL2    FPGT-TNNI3K    CASKIN2    ANKRD11    ANKRD44    ANKRD54
    NRARP    SHANK3    OSBP2    ANKRD42    INVS    ANKRD6
    OSBPL7    ANKRD12    ANKS3    DKFZp761E1322    MTPN    OSBP

    OSBPL1A 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 OSBPL1A (see all 5089)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs721962021,2
    C--18606955(+) GAGCC-/ACTGT 
            
    GCTCA
    3 -- int10--------
    rs124558231,2
    C,F,H--18640568(+) GTTTCT/CTTTTT 3 -- int1 trp31Minor allele frequency- C:0.33NA 6
    rs721825001,2
    C--18646965(+) ATAAC-/TTTTTT 3 -- int11Minor allele frequency- T:0.00CSA 2
    rs58234161,2
    C--18662894(+) ACAGA-/Tttttt 3 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs1880986101,2
    C--18683712(+) CTCCCC/GGGACT 3 -- int10--------
    rs2014080621,2
    C--18688552(+) TCATCA/CACACC 3 -- int10--------
    rs1126369801,2
    C,F--18689149(+) ACTAAT/ACTCTC 3 -- int11Minor allele frequency- A:0.50WA 2
    rs556390591,2
    C--18689171(+) CATGGG/CGGGGG 3 -- int16Minor allele frequency- C:0.00NA WA CSA 11
    rs106321251,2
    C--18710333(+) ttcac-/A/AA  
            
    aaaaa
    2 -- int1 trp30--------
    rs1385872401,2
    C--18713385(+) AAAAA-/AGAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for OSBPL1A (21742008 - 21977844 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for OSBPL1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2539637CNV Deletion19546169
    esv2476704CNV Deletion19546169
    esv2716867CNV Deletion23290073
    nsv2229CNV Insertion18451855
    nsv522361CNV Loss19592680
    nsv512520CNV Loss21212237
    nsv909459CNV Gain21882294
    nsv828190CNV Gain20364138
    nsv909460CNV Gain21882294

    Human Gene Mutation Database (HGMD): OSBPL1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OSBPL1A
    DNA2.0 Custom Variant and Variant Library Synthesis for OSBPL1A

    (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: 606730    OMIM disorders: --

    4 diseases for OSBPL1A:    About MalaCards
    osteoporosis    cerebritis    endotheliitis    malaria


    OSBPL1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSBPL1A
    Human Genome Epidemiology (HuGE) Navigator: OSBPL1A (2 documents)

    Export disorders for OSBPL1A 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 OSBPL1A gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with OSBPL1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport. (PubMed id 11279184)1, 2, 3, 9 Xu Y.... McMaster C.R. (J. Biol. Chem. 2001)
    2. Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism. (PubMed id 10588946)1, 3, 9 Laitinen S....Ikonen E. (J. Lipid Res. 1999)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. (PubMed id 20548944)1, 4 Hsu Y.H....Kiel D.P. (PLoS Genet. 2010)
    5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments. (PubMed id 16176980)1, 2 Johansson M.... Olkkonen V.M. (Mol. Biol. Cell 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. The OSBP-related protein family in humans. (PubMed id 11483621)1, 2 Lehto M.... Olkkonen V.M. (J. Lipid Res. 2001)

    (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: 114876 HGNC: 16398 AceView: OSBPL1A Ensembl:ENSG00000141447 euGenes: HUgn114876
    ECgene: OSBPL1A H-InvDB: OSBPL1A

    (According to HUGE)
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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 OSBPL1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OSBPL1A gene:
    Search GeneIP for patents involving OSBPL1A

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



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