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OSGEPL1 Gene

protein-coding   GIFtS: 51
GCID: GC02M190575

O-Sialoglycoprotein Endopeptidase-Like 1

Microbiology & Infectious Diseases Congress
  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
O-Sialoglycoprotein Endopeptidase-Like 11 2     Probable TRNA N6-Adenosine Threonylcarbamoyltransferase, Mitochondrial2
O-Sialoglycoprotein Endopeptidase-Like Protein 12 3     Probable TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL12
T(6)A37 Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL12 3     Putative Sialoglycoprotease Type 22
TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL12 3     EC 2.3.1.-3
Qri72     GCP13
O-Sialoglycoprotein Endopeptidase Like 12     EC 3.4.24.578
Probable O-Sialoglycoprotein Endopeptidase 22     

External Ids:    HGNC: 230751   Entrez Gene: 641722   Ensembl: ENSG000001286947   UniProtKB: Q9H4B03   

Export aliases for OSGEPL1 gene to outside databases

Previous GC identifers: GC02M190813 GC02M190436 GC02M190319 GC02M182471


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for OSGEPL1 Gene:
OSGEPL1 (O-sialoglycoprotein endopeptidase-like 1) is a protein-coding gene. Diseases associated with OSGEPL1 include loeys-dietz syndrome, and ehlers-danlos syndrome.

UniProtKB/Swiss-Prot: OSGP2_HUMAN, Q9H4B0
Function: Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in
mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the
threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial
genome maintenance (By similarity)




(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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSGEPL1 gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT5A   HNF-3beta   STAT1alpha   STAT2   STAT3   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSGEPL1 promoter sequence
   Search Chromatin IP Primers for OSGEPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSGEPL1


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

Entrez Gene cytogenetic band: 2q32.2   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32

OSGEPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSGEPL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M190575:  view genomic region     (about GC identifiers)

Start:
190,611,386 bp from pter      End:
190,627,953 bp from pter
Size:
16,568 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: OSGP2_HUMAN, Q9H4B0 (See protein sequence)
Recommended Name: Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial precursor  
Size: 414 amino acids; 45123 Da
Cofactor: Binds 1 divalent metal cation per subunit (By similarity)
Subunit: Homodimer (By similarity)
Secondary accessions: Q96EV9 Q96NH5
Alternative splicing: 3 isoforms:  Q9H4B0-1   Q9H4B0-2   Q9H4B0-3   

Explore the universe of human proteins at neXtProt for OSGEPL1: NX_Q9H4B0

Explore proteomics data for OSGEPL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OSGEPL1 (Q9H4B0) (see all 6)
     DNGIMIA  SDLSAIA  LGIETSCD  PRLCTDNG 


    See OSGEPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071748.2  
    ENSEMBL proteins: 
     ENSP00000264151   ENSP00000428859   ENSP00000429697   ENSP00000430062   ENSP00000430879  
     ENSP00000429385  

    OSGEPL1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for OSGEPL1
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    Novus Biologicals OSGEPL1 Protein
    Novus Biologicals OSGEPL1 Lysates
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    Cloud-Clone Corp. Proteins for OSGEPL1

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    LSBio Antibodies in human, mouse, rat for OSGEPL1

    OSGEPL1 Assay Products:

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    Cloud-Clone Corp. ELISAs for OSGEPL1
    Cloud-Clone Corp. CLIAs for OSGEPL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000905 Gcp-like_dom
     IPR017861 KAE1/YgjD

    Graphical View of Domain Structure for InterPro Entry Q9H4B0

    ProtoNet protein and cluster: Q9H4B0

    1 Blocks protein domain: IPB000905 Glycoprotease (M22) metalloprotease

    UniProtKB/Swiss-Prot: OSGP2_HUMAN, Q9H4B0
    Similarity: Belongs to the KAE1 / TsaD family


    OSGEPL1 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: OSGP2_HUMAN, Q9H4B0
    Function: Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in
    mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the
    threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial
    genome maintenance (By similarity)

         Enzyme Numbers (IUBMB): EC 3.4.24.572 EC 2.3.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups IEA--
    GO:0046872metal ion binding IEA--
         
    OSGEPL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OSGEPL1:
     Increased cell death HMECs cel 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OSGEPL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OSGEPL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OSGEPL1

    miRNA
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    miRTarBase miRNAs that target OSGEPL1:
    hsa-mir-16-5p (MIRT000885), hsa-mir-15a-5p (MIRT000886)

    Block miRNA regulation of human, mouse, rat OSGEPL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate OSGEPL1
    SwitchGear 3'UTR luciferase reporter plasmidOSGEPL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OSGEPL1

    Gene Editing
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    OriGene ORF clones in mouse, rat for OSGEPL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSGEPL1 (NM_022353)
    Sino Biological Human cDNA Clone for OSGEPL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSGEPL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSGEPL1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for OSGEPL1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSGEPL1


    (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
    OSGP2_HUMAN, Q9H4B0: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    OSGEPL1 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 OSGEPL1
    Interactions:

        Search GeneGlobe Interaction Network for OSGEPL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for OSGEPL1 (Q9H4B03 ENSP000002641514) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53RKQ96S443, ENSP000003611864I2D: score=1 STRING: ENSP00000361186
    AHCYP235263I2D: score=5 
    RPS24P628473I2D: score=2 
    ACTBP607093I2D: score=1 
    ACTG1P632613I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing IEA--

    OSGEPL1 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 OSGEPL1 (OSGP2)



    (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 OSGEPL1 gene: 
    NM_022353.2  

    Unigene Cluster for OSGEPL1:

    O-sialoglycoprotein endopeptidase-like 1
    Hs.60772  [show with all ESTs]
    Unigene Representative Sequence: NM_022353
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264151 ENST00000519810(uc002uqz.1 uc002ura.1) ENST00000524043
    ENST00000522700 ENST00000520350 ENST00000517895 ENST00000518114(uc010zfy.1)
    ENST00000521630
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OSGEPL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate OSGEPL1
    SwitchGear 3'UTR luciferase reporter plasmidOSGEPL1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for OSGEPL1
    Predesigned siRNA for gene silencing in human, mouse, rat OSGEPL1
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    OriGene ORF clones in mouse, rat for OSGEPL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSGEPL1 (NM_022353)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSGEPL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSGEPL1
    Primer
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    OriGene qPCR primer pairs and template standards for OSGEPL1
    OriGene qSTAR qPCR primer pairs in human, mouse for OSGEPL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSGEPL1
      QuantiTect SYBR Green Assays in human, mouse, rat OSGEPL1
      QuantiFast Probe-based Assays in human, mouse, rat OSGEPL1

    Additional mRNA sequence: 

    AK027836.1 AK055441.1 AK294841.1 AK314565.1 BC011904.2 BC035835.1 

    8 DOTS entries:

    DT.100747392  DT.101963627  DT.97827929  DT.100711664  DT.91754913  DT.91754916  DT.406765  DT.91679338 

    Selected AceView cDNA sequences (see all 54):

    BQ130908 BQ433135 BM126453 BF308169 BQ423651 BQ130643 CK819035 BG436856 
    BU726847 BQ672554 AK055441 R35252 AI291832 AI122815 BU621780 BX359023 
    BQ961028 BM971037 BE740611 AA923199 AA887106 AJ295148 AI803150 NM_022353 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for OSGEPL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
    SP1:                                                  -           -               
    SP2:                                                              -     -         
    SP3:                                                                              
    SP4:                                                              -               


    ECgene alternative splicing isoforms for OSGEPL1

    (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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    OSGEPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAGGAAAA
    OSGEPL1 Expression
    About this image

    OSGEPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OSGEPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.60772

    UniProtKB/Swiss-Prot: OSGP2_HUMAN, Q9H4B0
    Tissue specificity: Widely expressed, with maximum expression in pituitary gland, prostate, rectum and uterus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSGEPL1

    (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 OSGEPL1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osgepl11 , 5 O-sialoglycoprotein endopeptidase-like 11, 5 85.27(n)1
    85.02(a)1
      1 (26.99 cM)5
    720851  NM_001285839.11  NP_001272768.11 
     533136245 
    chicken
    (Gallus gallus)
    Aves OSGEPL11 O-sialoglycoprotein endopeptidase-like 1 67.57(n)
    64.95(a)
      423982  XM_004942397.1  XP_004942454.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSGEPL16
    O-sialoglycoprotein endopeptidase-like 1
    62(a)
    1 ↔ 1
    2(135082543-135099209)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.326792 Xenopus laevis transcribed sequence with weak similarity more 75.15(n)    BJ639607.1 
    zebrafish
    (Danio rerio)
    Actinopterygii osgepl12 O-sialoglycoprotein endopeptidase-like 1 75.83(n)   368635  BM572781.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142311 CG14231 45.1(n)
    43.7(a)
      32982  NM_134503.3  NP_608347.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C01G10.106
    Protein C01G10.10 (C01G10.10) mRNA, complete cds
    29(a)
    1 ↔ 1
    V(15080141-15082479) WBGene00007237
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes QRI7(YDL104C)4 Highly conserved mitochondrial protein, essential for more   --   4(274876-273653) 851454  NP_010179.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GCP11 GCP1 48.79(n)
    41.34(a)
      819135  NM_130090.4  NP_566039.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g04850001 Os12g0485000 50.71(n)
    41.08(a)
      9270395  NM_001190028.1  NP_001176957.1 


    ENSEMBL Gene Tree for OSGEPL1 (if available)
    TreeFam Gene Tree for OSGEPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 OSGEPL1 (see all 272)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22542701,2
    C,A--190611980(+) GGATTT/GCTTGA 1 -- int111Minor allele frequency- G:0.02NA WA CSA EA 372
    rs1403869841,2
    --190612147(+) AAATTG/TTTTAA 1 -- int10--------
    rs1845432911,2
    --190612192(+) GAAATC/GATTGC 1 -- int10--------
    rs18985591,2
    C,F,H--190612308(+) TAGAAC/GCATAT 1 -- int113Minor allele frequency- G:0.04NS EA NA WA 1636
    rs18985601,2
    C,F,H--190612327(+) TGCTCA/CAATAG 1 -- int121Minor allele frequency- C:0.26NS EA NA WA CSA 2472
    rs14400061,2
    C,F,O,A,H--190612339(+) AATGTA/CTGCTT 1 -- int127Minor allele frequency- C:0.08NS EA NA WA CSA 2489
    rs1503581791,2
    --190612369(+) GATAGA/GTATGA 1 -- int10--------
    rs1380474371,2
    --190612413(+) TACTTA/CCTTAC 1 -- int10--------
    rs777600591,2
    C--190612635(+) TTGAAA/CTCCTG 1 -- int10--------
    rs1409756851,2
    C--190612654(+) TGATCC/TGCCTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for OSGEPL1 (190611386 - 190627953 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for OSGEPL1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OSGEPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for OSGEPL1

    (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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    4 diseases for OSGEPL1:    About MalaCards
    loeys-dietz syndrome    ehlers-danlos syndrome    pneumonia    malaria

    1 disease from the University of Copenhagen DISEASES database for OSGEPL1:
    Loeys-Dietz syndrome

    OSGEPL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSGEPL1
    Human Genome Epidemiology (HuGE) Navigator: OSGEPL1 (1 document)

    Export disorders for OSGEPL1 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 OSGEPL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with OSGEPL1)
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    1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    2. Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance. (PubMed id 19578062)1, 3 Oberto J....Forterre P. (Nucleic Acids Res. 2009)
    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. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    5. Eukaryotic GCP1 is a conserved mitochondrial protein required for progression of embryo development beyond the globular stage in Arabidopsis thaliana. (PubMed id 19694617)2 Haussuehl K....Adamska I. (Biochem. J. 2009)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. (PubMed id )2 

    (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: 64172 HGNC: 23075 AceView: OSGEPL1 Ensembl:ENSG00000128694 euGenes: HUgn64172
    ECgene: OSGEPL1 H-InvDB: OSGEPL1

    (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 OSGEPL1 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 OSGEPL1 gene:
    Search GeneIP for patents involving OSGEPL1

    GeneCards and IP:
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