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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OCEL1 Gene

protein-coding   GIFtS: 43
GCID: GC19P017337

occludin/ELL domain containing 1

  Search for OCEL1
in our new
 Human Malady Compendium 
Biological research products
for OCEL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Occludin/ELL Domain Containing 11 2
FLJ227091
FWP0092
S863-92
Occludin/ELL Domain-Containing Protein 12

External Ids:    HGNC: 262211   Entrez Gene: 796292   Ensembl: ENSG000000993307   UniProtKB: Q9H6073   

Export aliases for OCEL1 gene to outside databases

Previous GC identifers: GC19P017201 GC19P016904


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OCEL1 gene promoter:
         AhR   USF1   NRSF form 1   MyoD   USF2   USF-1:USF-2   Nkx2-5   NRSF form 2   Arnt   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOCEL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OCEL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OCEL1


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

OCEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCEL1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017337:  view genomic region     (about GC identifiers)

Start:
17,337,055 bp from pter      End:
17,340,028 bp from pter
Size:
2,974 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607 (See protein sequence)
Recommended Name: Occludin/ELL domain-containing protein 1  
Size: 264 amino acids; 29404 Da

Explore the universe of human proteins at neXtProt for OCEL1: NX_Q9H607

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H607

  • OCEL1 Protein expression data from MOPED and PaxDb:    About this image 
    OCEL1 Protein Expression
    REFSEQ proteins: NP_078854.1  
    ENSEMBL proteins: 
     ENSP00000215061  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    OCEL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010844 Occludin_RNApol2_elong_fac_ELL

    Graphical View of Domain Structure for InterPro Entry Q9H607

    ProtoNet protein and cluster: Q9H607

    1 Blocks protein family: IPB010844 Occludin and RNA polymerase II elongation factor ELL

    UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607
    Similarity: Belongs to the ELL/occludin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         3 GenomeRNAi human phenotypes for OCEL1:
     Decreased TP53 protein express  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OCEL1 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OCEL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for OCEL1
    Search CenterWatch for drugs/clinical trials and news about OCEL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OCEL1 gene: 
    NM_024578.1  

    Unigene Cluster for OCEL1:

    Occludin/ELL domain containing 1
    Hs.422676  [show with all ESTs]
    Unigene Representative Sequence: BC038945
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000215061(uc002nfp.3)

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    hsa-miR-4254
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF109191.1 AK026362.1 BC004121.2 BC029361.1 BC038945.1 

    8 DOTS entries:

    DT.95272108  DT.40251005  DT.314495  DT.91805948  DT.95332178  DT.100781656  DT.121450966  DT.91764258 

    24/116 AceView cDNA sequences (see all 116):

    CK300801 BM701945 CR602515 BC029361 BC038945 CK300293 CR598715 BM975221 
    AI718116 BM979959 BM976080 AK026362 AI290528 BU753491 BG182568 BV179772 
    AU185792 BC004121 NM_024578 BG219048 CB305463 BI759960 AA372071 T62891 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for OCEL1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c
    SP1:                          -     -                 -                                   -                                 
    SP2:                          -     -                 -                 -     -           -                                 
    SP3:                                                  -                                                                     
    SP4:                          -     -                                                                                       
    SP5:                                -                                                                                       


    ECgene alternative splicing isoforms for OCEL1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OCEL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTAGACAC
    OCEL1 Expression
    About this image
    See OCEL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OCEL1

    SOURCE GeneReport for Unigene cluster: Hs.422676
        SABiosciences Custom PCR Arrays for OCEL1

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCEL1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OCEL1 gene from 1/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta Su(Tpl)6
    Su(Tpl)
    4(a)
    1 → many
    3L(19882220-19902510)


    ENSEMBL Gene Tree for OCEL1 (if available)
    TreeFam Gene Tree for OCEL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OCEL1 gene
    MARVELD22  ELL32  OCLN2  ELL22  ELL2  
    1 SIMAP similar gene for OCEL1 using alignment to 10 protein entries:     OCEL1_HUMAN (see all proteins):
    MARVELD2

    OCEL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/164 NCBI SNPs in OCEL1 are shown (see all 164    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505688151,2
    --17335100(+) TTTCC-/TTTTT 
     TTTTTTT
    TTTTT
    1 -- us2k10--------
    rs612528831,2
    C--17335101(+) TTTTTTTTTTTT 
     TTTTT
    /-
    GAGAC
    1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1876875971,2
    --17335189(+) GGTTCA/CAGCGA 1 -- us2k10--------
    rs1922456211,2
    --17335235(+) CAGGCA/GCCCGC 1 -- us2k10--------
    rs768691651,2
    C--17335237(+) GGCGCC/TCGCCG 1 -- us2k12Minor allele frequency- T:0.04WA NA 122
    rs583330771,2
    C--17335324(+) GACCTC/TGTGAT 1 -- us2k12Minor allele frequency- T:0.25NA 4
    rs621261811,2
    C,F--17335465(+) AGCACT/GCTGGG 1 -- us2k13Minor allele frequency- G:0.33NA WA CSA 6
    rs621261821,2
    C--17335485(+) CAGGCA/GGATCA 1 -- us2k12Minor allele frequency- G:0.25NA WA 4
    rs621261831,2
    C--17335534(+) GAAACA/CTCGTC 1 -- us2k10--------
    rs129732351,2
    C,F--17335545(+) TCTACA/TAAAAA 1 -- us2k14Minor allele frequency- T:0.25NA CSA 8

    HapMap Linkage Disequilibrium report for OCEL1 (17337055 - 17340028 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for OCEL1
         1 CNV: 30072

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    (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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for OCEL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with OCEL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79629 HGNC: 26221 AceView: FLJ22709 Ensembl:ENSG00000099330 euGenes: HUgn79629
    ECgene: OCEL1 H-InvDB: OCEL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OCEL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OCEL1 gene:
    Search GeneIP for patents involving OCEL1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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