Human Gene THOC1 (ENST00000261600.11_9) from GENCODE V47lift37
  Description: THO complex 1 (from RefSeq NM_005131.3)
Gencode Transcript: ENST00000261600.11_9
Gencode Gene: ENSG00000079134.13_12
Transcript (Including UTRs)
   Position: hg19 chr18:214,520-268,047 Size: 53,528 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr18:214,626-268,019 Size: 53,394 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:214,520-268,047)mRNA (may differ from genome)Protein (657 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: THOC1_HUMAN
DESCRIPTION: RecName: Full=THO complex subunit 1; Short=Tho1; AltName: Full=Nuclear matrix protein p84; Short=p84N5; AltName: Full=hTREX84;
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.
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.
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.
INDUCTION: Up-regulated during cell proliferation.
DOMAIN: An intact death domain is needed for apoptosis.
PTM: Expression is altered specifically during apoptosis and is accompanied by the appearance of novel forms with smaller apparent molecular mass.
SIMILARITY: Contains 1 death domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.28 RPKM in Testis
Total median expression: 400.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.6028-0.236 Picture PostScript Text
3' UTR -13.90106-0.131 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000488 - Death
IPR011029 - DEATH-like
IPR021861 - THO_THOC1

Pfam Domains:
PF00531 - Death domain
PF11957 - THO complex subunit 1 transcription elongation factor

SCOP Domains:
47986 - DEATH domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WXP - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q96FV9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000018 regulation of DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0031297 replication fork processing
GO:0032784 regulation of DNA-templated transcription, elongation
GO:0032786 positive regulation of DNA-templated transcription, elongation
GO:0046784 viral mRNA export from host cell nucleus
GO:0048297 negative regulation of isotype switching to IgA isotypes
GO:0051028 mRNA transport
GO:2000002 negative regulation of DNA damage checkpoint

Cellular Component:
GO:0000346 transcription export complex
GO:0000347 THO complex
GO:0000445 THO complex part of transcription export complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016363 nuclear matrix
GO:0016607 nuclear speck
GO:0045171 intercellular bridge
GO:0000784 nuclear chromosome, telomeric region


-  Descriptions from all associated GenBank mRNAs
  LF210967 - JP 2014500723-A/18470: Polycomb-Associated Non-Coding RNAs.
AK225709 - Homo sapiens mRNA for THO complex subunit 1 variant, clone: SYN09250.
AK225067 - Homo sapiens mRNA for THO complex subunit 1 variant, clone: CAE05835.
L36529 - Human (clone N5-4) protein p84 mRNA, complete cds.
BC010381 - Homo sapiens THO complex 1, mRNA (cDNA clone MGC:13557 IMAGE:4046908), complete cds.
DQ892768 - Synthetic construct clone IMAGE:100005398; FLH189518.01X; RZPDo839G0174D THO complex 1 (THOC1) gene, encodes complete protein.
AK314755 - Homo sapiens cDNA, FLJ95622, highly similar to Homo sapiens THO complex 1 (THOC1), mRNA.
KJ898131 - Synthetic construct Homo sapiens clone ccsbBroadEn_07525 THOC1 gene, encodes complete protein.
EU176747 - Synthetic construct Homo sapiens clone IMAGE:100011513; FLH189517.01L; RZPDo839C11255D THO complex 1 (THOC1) gene, encodes complete protein.
AY573303 - Homo sapiens death domain-containing protein p84N5 short isoform (THOC1) mRNA, complete cds.
CU679685 - Synthetic construct Homo sapiens gateway clone IMAGE:100018396 5' read THOC1 mRNA.
MA446544 - JP 2018138019-A/18470: Polycomb-Associated Non-Coding RNAs.
AK055354 - Homo sapiens cDNA FLJ30792 fis, clone FEBRA2001004, highly similar to Human (clone N5-4) protein p84 mRNA.
AK123530 - Homo sapiens cDNA FLJ41536 fis, clone BRTHA2017178, highly similar to Homo sapiens nuclear matrix protein p84 (P84).
LF342667 - JP 2014500723-A/150170: Polycomb-Associated Non-Coding RNAs.
LF342665 - JP 2014500723-A/150168: Polycomb-Associated Non-Coding RNAs.
LF342664 - JP 2014500723-A/150167: Polycomb-Associated Non-Coding RNAs.
LF342662 - JP 2014500723-A/150165: Polycomb-Associated Non-Coding RNAs.
LF342656 - JP 2014500723-A/150159: Polycomb-Associated Non-Coding RNAs.
LF342648 - JP 2014500723-A/150151: Polycomb-Associated Non-Coding RNAs.
LF342647 - JP 2014500723-A/150150: Polycomb-Associated Non-Coding RNAs.
MA578244 - JP 2018138019-A/150170: Polycomb-Associated Non-Coding RNAs.
MA578242 - JP 2018138019-A/150168: Polycomb-Associated Non-Coding RNAs.
MA578241 - JP 2018138019-A/150167: Polycomb-Associated Non-Coding RNAs.
MA578239 - JP 2018138019-A/150165: Polycomb-Associated Non-Coding RNAs.
MA578233 - JP 2018138019-A/150159: Polycomb-Associated Non-Coding RNAs.
MA578225 - JP 2018138019-A/150151: Polycomb-Associated Non-Coding RNAs.
MA578224 - JP 2018138019-A/150150: Polycomb-Associated Non-Coding RNAs.
AY573302 - Homo sapiens death domain-containing protein p84N5 short isoform 2 (THOC1) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96FV9 (Reactome details) participates in the following event(s):

R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-72187 mRNA 3'-end processing
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-8953854 Metabolism of RNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2RBP6, ENST00000261600.1, ENST00000261600.10, ENST00000261600.2, ENST00000261600.3, ENST00000261600.4, ENST00000261600.5, ENST00000261600.6, ENST00000261600.7, ENST00000261600.8, ENST00000261600.9, HPR1, NM_005131, Q15219, Q64I72, Q64I73, Q96FV9, THOC1_HUMAN, uc317gro.1, uc317gro.2
UCSC ID: ENST00000261600.11_9
RefSeq Accession: NM_005131.3
Protein: Q96FV9 (aka THOC1_HUMAN or THO1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.