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

THOC1 Gene

protein-coding   GIFtS: 58
GCID: GC18M000204

THO Complex 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)
About This Section

Aliases
THO Complex 11 2     P84N52
HPR12 3 5     THO Complex Subunit 12
Nuclear Matrix Protein P842 3     tho12
hTREX842 3     Tho13
P842     p84N53

External Ids:    HGNC: 190701   Entrez Gene: 99842   Ensembl: ENSG000000791347   OMIM: 6069305   UniProtKB: Q96FV93   

Export aliases for THOC1 gene to outside databases

Previous GC identifer: GC18M000202


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

Entrez Gene summary for THOC1 Gene:
HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY
(MIM 604171), and UAP56 (MIM 142560).(supplied by OMIM, Nov 2010)

GeneCards Summary for THOC1 Gene: 
THOC1 (THO complex 1) is a protein-coding gene. Diseases associated with THOC1 include kaposi's sarcoma, and major depressive disorder, and among its related super-pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding and DNA binding.

UniProtKB/Swiss-Prot: THOC1_HUMAN, Q96FV9
Function: Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with
spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent
mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and
cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment
occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge
between ALYREF/THOC4 and the THO complex. The TREX complex is essential for the export of Kaposi's
sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the
TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4
Function: Regulates transcriptional elongation of a subset of genes. Participates in an apoptotic pathway which is
characterized by activation of caspase-6, increases in the expression of BAK1 and BCL2L1 and activation of
NF-kappa-B. This pathway does not require p53/TP53, nor does the presence of p53/TP53 affect the efficiency of
cell killing. Activates a G2/M cell cycle checkpoint prior to the onset of apoptosis. Apoptosis is inhibited by
association with RB1

Gene Wiki entry for THOC1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THOC1 gene promoter:
         p53   POU3F2 (N-Oct-5a)   POU6F1 (c2)   CUTL1   POU3F2   Evi-1   FOXL1   PPAR-alpha   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHOC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for THOC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THOC1


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.32

THOC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THOC1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M000204:  view genomic region     (about GC identifiers)

Start:
214,520 bp from pter      End:
268,059 bp from pter
Size:
53,540 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: THOC1_HUMAN, Q96FV9 (See protein sequence)
Recommended Name: THO complex subunit 1  
Size: 657 amino acids; 75666 Da
Subunit: Component of the THO complex, which is composed of THOC1, THOC2, THOC5, THOC6 and THOC7. Together with
THOC3, ALYREF/THOC4 and DDX39B, THO forms the transcription/export (TREX) complex. Binds to the
hypophosphorylated form of RB1. Interacts with THOC2, DDX39B and RNA polymerase II
Subcellular location: Isoform 1: Nucleus speckle. Nucleus, nucleoplasm. Nucleus matrix. Cytoplasm. Note=Can
shuttle between the nucleus and cytoplasm. Nuclear localization is required for induction of apoptotic cell
death. Translocates to the cytoplasm during the early phase of apoptosis execution
Subcellular location: Isoform 2: Cytoplasm
1 PDB 3D structure from and Proteopedia for THOC1:
1WXP (3D)    
Secondary accessions: B2RBP6 Q15219 Q64I72 Q64I73
Alternative splicing: 2 isoforms:  Q96FV9-1   Q96FV9-2   (May be due to an intron retention)

Explore the universe of human proteins at neXtProt for THOC1: NX_Q96FV9

Explore proteomics data for THOC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Expression is altered specifically during apoptosis and is accompanied by the appearance of novel forms with
    smaller apparent molecular mass
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FV9

  • THOC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    THOC1 Protein Expression
    REFSEQ proteins: NP_005122.2  
    ENSEMBL proteins: 
     ENSP00000462757   ENSP00000261600   ENSP00000473276   ENSP00000473499   ENSP00000463965  
     ENSP00000461943  

    Human Recombinant Protein Products for THOC1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for THOC1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000346transcription export complex IDA15833825
    GO:0000347THO complex IDA15998806
    GO:0000445THO complex part of transcription export complex IDA15998806
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    THOC1 for ontologies           About GeneDecksing



    THOC1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    THOC: THO complex subunits

    3 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR000488 Death_domain
     IPR021861 THO_THOC1

    Graphical View of Domain Structure for InterPro Entry Q96FV9

    ProtoNet protein and cluster: Q96FV9

    1 Blocks protein domain: IPB000488 Death domain

    UniProtKB/Swiss-Prot: THOC1_HUMAN, Q96FV9
    Domain: An intact death domain is needed for apoptosis
    Similarity: Contains 1 death domain


    THOC1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THOC1_HUMAN, Q96FV9
    Function: Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with
    spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent
    mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and
    cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment
    occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge
    between ALYREF/THOC4 and the THO complex. The TREX complex is essential for the export of Kaposi's
    sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the
    TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4
    Function: Regulates transcriptional elongation of a subset of genes. Participates in an apoptotic pathway which is
    characterized by activation of caspase-6, increases in the expression of BAK1 and BCL2L1 and activation of
    NF-kappa-B. This pathway does not require p53/TP53, nor does the presence of p53/TP53 affect the efficiency of
    cell killing. Activates a G2/M cell cycle checkpoint prior to the onset of apoptosis. Apoptosis is inhibited by
    association with RB1
    Induction: Up-regulated during cell proliferation

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI15870275
         
    THOC1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for THOC1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Thoc1):
     cellular  embryogenesis  growth/size  mortality/aging 

    THOC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Thoc1tm1Dwg for THOC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for THOC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for THOC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for THOC1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THOC1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for THOC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Spliceosome0.31
    2RNA transport
    RNA transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2         Kegg Pathways  (Kegg details for THOC1):
        RNA transport
    Spliceosome


    THOC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for THOC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/603 Interacting proteins for THOC1 (Q96FV92, 3 ENSP000002616004) via UniProtKB, MINT, STRING, and/or I2D (see all 603)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    THOC5Q137692, 3, ENSP000003809694MINT-6800052 MINT-6800071 MINT-7040368 MINT-7040334 MINT-7040353 MINT-6800089 MINT-7040173 MINT-8337959 I2D: score=1 STRING: ENSP00000380969
    DDX39BQ138382, 3MINT-7945693 I2D: score=1 
    ENSG00000215425Q138382, 3MINT-7945693 I2D: score=1 
    ENSG00000225073Q138382, 3MINT-7945693 I2D: score=1 
    ENSG00000225859Q138382, 3MINT-7945693 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006396RNA processing TAS7525595
    GO:0006397mRNA processing IEA--
    GO:0006406mRNA export from nucleus IDA17190602
    GO:0006915apoptotic process IDA10512864

    THOC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for THOC1

    Search CenterWatch for drugs/clinical trials and news about THOC1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for THOC1 gene: 
    NM_005131.2  

    Unigene Cluster for THOC1:

    THO complex 1
    Hs.712543  [show with all ESTs]
    Unigene Representative Sequence: NM_005131
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579232(uc002kkl.2) ENST00000577429 ENST00000583228 ENST00000578529
    ENST00000580038 ENST00000261600(uc002kkj.4) ENST00000584470(uc002kkh.4)
    ENST00000585307 ENST00000579891 ENST00000577552 ENST00000582313 ENST00000584642
    ENST00000581269 ENST00000581116 ENST00000581576 ENST00000578224 ENST00000580870
    ENST00000580544
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate THOC1:
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    Additional mRNA sequence: 

    AK225067.1 AK225709.1 AK314755.1 AY573302.1 BC010381.1 L36529.1 

    20 DOTS entries:

    DT.216965  DT.95133371  DT.91707912  DT.100639435  DT.97774518  DT.100786550  DT.121091348  DT.92447227 
    DT.92447228  DT.95133370  DT.95133414  DT.95158861  DT.97804170  DT.100029137  DT.100786553  DT.100786556 
    DT.100786554  DT.121091372  DT.75185234  DT.91742185 

    24/153 AceView cDNA sequences (see all 153):

    AA748327 D20865 AK055354 CA421734 AA280748 AY573303 BM470869 AL556066 
    BM839905 AI040749 CD360089 CR597833 AU118754 AK123530 BU156486 R29125 
    CR591724 CR596078 BU677669 CR600665 BM845267 BU665008 BQ014986 AW664040 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for THOC1 (see all 10)    About this scheme

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

    ExUns: 19b · 19c ^ 20a · 20b ^ 21a · 21b
    SP1:                                    
    SP2:  -     -     -                     
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for THOC1

    (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

    THOC1 expression in normal human tissues (normalized intensities)      THOC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACACCTGA
    THOC1 Expression
    About this image


    THOC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood

    See THOC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THOC1

    SOURCE GeneReport for Unigene cluster: Hs.712543

    UniProtKB/Swiss-Prot: THOC1_HUMAN, Q96FV9
    Tissue specificity: Ubiquitous. Expressed in various cancer cell lines. Expressed at very low levels in normal
    breast epithelial cells and highly expressed in breast tumors. Expression is strongly associated with an
    aggressive phenotype of breast tumors and expression correlates with tumor size and the metastatic state of the
    tumor progression

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THOC1

    (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 THOC1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thoc11 , 5 THO complex 11, 5 90.72(n)1
    96.19(a)1
      18 (4.91 cM)5
    2251601  NM_153552.31  NP_705780.11 
     99581805 
    chicken
    (Gallus gallus)
    Aves THOC11 THO complex 1 80.99(n)
    90.47(a)
      421062  XM_419149.3  XP_419149.3 
    lizard
    (Anolis carolinensis)
    Reptilia THOC16
    Uncharacterized protein
    86(a)
    1 ↔ 1
    4(39319167-39341108)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044699.12   -- 75.35(n)    BC044699.1 
    zebrafish
    (Danio rerio)
    Actinopterygii thoc12 THO complex 1 79.1(n)   373077  BC054938.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hpr11 CG2031-PA 48.95(n)
    42.38(a)
      40723  NM_141337.1  NP_649594.1 
    worm
    (Caenorhabditis elegans)
    Secernentea thoc-11 Protein THOC-1 46.9(n)
    36.32(a)
      173460  NM_061395.2  NP_493796.2 


    ENSEMBL Gene Tree for THOC1 (if available)
    TreeFam Gene Tree for THOC1 (if available)

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

    (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) 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

    10/1113 SNPs in THOC1 are shown (see all 1113)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs673308791,2
    C--204042(+) TGATT-/GA    
       T
    /TGA
    GATAG
    2 -- cds11NA 2
    rs5166291,2
    F,H--214297(-) TGTTAG/CTAGTT 1 -- ds50017Minor allele frequency- C:0.00MN NS EA NA 606
    rs113091,2
    F--214486(-) AACAAT/CAGAAC 1 -- ds50011Minor allele frequency- C:0.00MN 184
    rs30841761,2
    C--214521(+) TTGTT-/GTTATAAA 1 -- cds10--------
    rs1859862371,2
    --214526(+) TGTTAC/TAAAAA 1 -- ut310--------
    rs6575411,2
    C,H--214643(+) CTCATT/GGTCAT 2 /N /H mis19Minor allele frequency- G:0.00EA NA MN NS 646
    rs2014762251,2
    C--214848(+) TTCCAC/TTGTTC 2 Q syn10--------
    rs2017375921,2
    C--214849(+) TCCATT/CGTTCA 2 /Q /R mis11Minor allele frequency- C:0.00EU 593
    rs2006035221,2
    --214853(+) TTGTTC/TACCCA 2 K E mis10--------
    rs73430431,2
    C,F,H--214918(+) CATCAG/AGACCT 2 /P /L mis1 ese39Minor allele frequency- A:0.01NS EA NA 858

    HapMap Linkage Disequilibrium report for THOC1 (214520 - 268059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for THOC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2174CNV Loss18451855
    nsv518642CNV Gain19592680
    nsv909287CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606930    OMIM disorders: --

    8 diseases for THOC1:    About MalaCards
    kaposi's sarcoma    major depressive disorder    retinoblastoma    sarcoma
    hepatitis b    hepatitis    lung cancer    breast cancer


    THOC1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for THOC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 3 17638875 (3)

    Genetic Association Database (GAD): THOC1
    Human Genome Epidemiology (HuGE) Navigator: THOC1 (1 document)

    Export disorders for THOC1 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)
    About This Section

    PubMed articles for THOC1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with THOC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TREX is a conserved complex coupling transcription with messenger RNA export. (PubMed id 11979277)1, 2, 3 Straesser K....Hurt E. (2002)
    2. Meta-analysis of genome-wide association data of bipo lar disorder and major depressive disorder. (PubMed id 20351715)1, 4 Liu Y....Sullivan P.F. (2010)
    3. Recruitment of the complete hTREX complex is required for Kaposi's sarcoma-associated herpesvirus intronless mRNA nuclear export and virus replication. (PubMed id 18974867)1, 2 Boyne J.R.... Whitehouse A. (2008)
    4. Human mRNA export machinery recruited to the 5' end of mRNA. (PubMed id 17190602)1, 2 Cheng H.... Reed R. (2006)
    5. Recruitment of the human TREX complex to mRNA during splicing. (PubMed id 15998806)1, 2 Masuda S.... Reed R. (2005)
    6. Human hHpr1/p84/Thoc1 regulates transcriptional elongation and physically links RNA polymerase II and RNA processing factors. (PubMed id 15870275)1, 2 Li Y.... Goodrich D.W. (2005)
    7. Linking transcriptional elongation and messenger RNA export to metastatic breast cancers. (PubMed id 15833825)1, 2 Guo S.... Shiekhattar R. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. The death domain protein p84N5, but not the short isoform p84N5s, is cell cycle-regulated and shuttles between the nucleus and the cytoplasm. (PubMed id 15358532)1, 2 Gasparri F.... Muzio M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 9984 HGNC: 19070 AceView: THOC1 Ensembl:ENSG00000079134 euGenes: HUgn9984
    ECgene: THOC1 Kegg: 9984 H-InvDB: THOC1

    (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 THOC1 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 THOC1 gene:
    Search GeneIP for patents involving THOC1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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