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Aliases for THOC1 Gene

Aliases for THOC1 Gene

  • THO Complex 1 2 3 5
  • Nuclear Matrix Protein P84 3 4
  • HTREX84 3 4
  • P84N5 3 4
  • HPR1 3 4
  • THO1 3 4
  • THO Complex Subunit 1 3
  • P84 3

External Ids for THOC1 Gene

Previous GeneCards Identifiers for THOC1 Gene

  • GC18M000202

Summaries for THOC1 Gene

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. Among its related pathways are RNA Polymerase II Transcription Termination and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for THOC1 Gene

  • Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX 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 to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Regulates transcriptional elongation of a subset of genes. Involved in genome stability by preventing co-transcriptional R-loop formation.

  • 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

Additional gene information for THOC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THOC1 Gene

Genomics for THOC1 Gene

GeneHancer (GH) Regulatory Elements for THOC1 Gene

Promoters and enhancers for THOC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I000267 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.3 -0.3 -255 2.6 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 ZNF610 RCOR2 NBN NR2C1 THOC1 ENSG00000263884 ROCK1P1 USP14 GC18P000270
GH18I000269 Enhancer 0.7 ENCODE 557.8 -1.9 -1877 0.2 SCRT1 DRAP1 SAP130 KLF6 FOXA3 ARID4B CEBPG HMG20A PPARG RARA THOC1 ENSG00000263884 GC18P000270
GH18I000806 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -543.0 -542979 8.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YES1 GC18P000814 ENOSF1 THOC1 ENSG00000273355 TYMS GC18M000797 RNU1-109P
GH18I000708 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 -443.0 -442969 4.7 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 CBX5 E2F8 ZNF143 ENOSF1 THOC1 TYMS TYMSOS RNU1-109P YES1 ENSG00000265490
GH18I000157 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.7 +109.1 109106 2.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 USP14 CETN1 ROCK1P1 THOC1 LOC105371951 GC18M000160
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THOC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THOC1 gene promoter:

Genomic Locations for THOC1 Gene

Genomic Locations for THOC1 Gene
chr18:214,520-268,059
(GRCh38/hg38)
Size:
53,540 bases
Orientation:
Minus strand
chr18:214,520-268,059
(GRCh37/hg19)

Genomic View for THOC1 Gene

Genes around THOC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THOC1 Gene

Proteins for THOC1 Gene

  • Protein details for THOC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FV9-THOC1_HUMAN
    Recommended name:
    THO complex subunit 1
    Protein Accession:
    Q96FV9
    Secondary Accessions:
    • B2RBP6
    • Q15219
    • Q64I72
    • Q64I73

    Protein attributes for THOC1 Gene

    Size:
    657 amino acids
    Molecular mass:
    75666 Da
    Quaternary structure:
    • Component of the THO complex, which is composed of THOC1, THOC2, THOC3, THOC5, THOC6 and THOC7; together with at least ALYREF/THOC4, DDX39B, SARNP/CIP29 and CHTOP, THO forms the transcription/export (TREX) complex which seems to have a dynamic structure involving ATP-dependent remodeling. Binds to the hypophosphorylated form of RB1. Interacts with THOC2, DDX39B and RNA polymerase II. Interacts with THOC5 (By similarity). Interacts with LUZP4.

    Three dimensional structures from OCA and Proteopedia for THOC1 Gene

    Alternative splice isoforms for THOC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THOC1 Gene

Post-translational modifications for THOC1 Gene

  • Expression is altered specifically during apoptosis and is accompanied by the appearance of novel forms with smaller apparent molecular mass.
  • Polyubiquitinated, leading to proteasomal degradation; probably involves NEDD4.
  • Ubiquitination at isoforms=231 and isoforms=2237

No data available for DME Specific Peptides for THOC1 Gene

Domains & Families for THOC1 Gene

Gene Families for THOC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for THOC1 Gene

Suggested Antigen Peptide Sequences for THOC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FV9

UniProtKB/Swiss-Prot:

THOC1_HUMAN :
  • An intact death domain is needed for apoptosis.
Domain:
  • An intact death domain is needed for apoptosis.
genes like me logo Genes that share domains with THOC1: view

Function for THOC1 Gene

Molecular function for THOC1 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX 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 to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Regulates transcriptional elongation of a subset of genes. Involved in genome stability by preventing co-transcriptional R-loop formation.
UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
Up-regulated during cell proliferation.

Phenotypes From GWAS Catalog for THOC1 Gene

Gene Ontology (GO) - Molecular Function for THOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 15870275
genes like me logo Genes that share ontologies with THOC1: view
genes like me logo Genes that share phenotypes with THOC1: view

Animal Models for THOC1 Gene

MGI Knock Outs for THOC1:

miRNA for THOC1 Gene

miRTarBase miRNAs that target THOC1

Clone Products

  • Addgene plasmids for THOC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for THOC1 Gene

Localization for THOC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOC1 Gene

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.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THOC1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000346 transcription export complex IDA 15833825
GO:0000347 THO complex IDA 15998806
GO:0000445 THO complex part of transcription export complex IDA 15998806
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IDA,TAS 15358532
genes like me logo Genes that share ontologies with THOC1: view

Pathways & Interactions for THOC1 Gene

genes like me logo Genes that share pathways with THOC1: view

Gene Ontology (GO) - Biological Process for THOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination IMP 22144908
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006396 RNA processing TAS 7525595
genes like me logo Genes that share ontologies with THOC1: view

No data available for SIGNOR curated interactions for THOC1 Gene

Drugs & Compounds for THOC1 Gene

No Compound Related Data Available

Transcripts for THOC1 Gene

Unigene Clusters for THOC1 Gene

THO complex 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for THOC1

Alternative Splicing Database (ASD) splice patterns (SP) for THOC1 Gene

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: -
SP6:
SP7:
SP8: -
SP9:
SP10:

ExUns: 19b · 19c ^ 20a · 20b ^ 21a · 21b
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for THOC1 Gene

GeneLoc Exon Structure for
THOC1
ECgene alternative splicing isoforms for
THOC1

Expression for THOC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THOC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THOC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.6), Blymphocyte (10.7), Lymph node (7.4), CD8 Tcells (6.5), and NK cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THOC1 Gene



Protein tissue co-expression partners for THOC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THOC1 Gene:

THOC1

SOURCE GeneReport for Unigene cluster for THOC1 Gene:

Hs.712543

mRNA Expression by UniProt/SwissProt for THOC1 Gene:

Q96FV9-THOC1_HUMAN
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.

Evidence on tissue expression from TISSUES for THOC1 Gene

  • Blood(4.3)
  • Bone marrow(4.3)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with THOC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for THOC1 Gene

Orthologs for THOC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for THOC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THOC1 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia THOC1 33 34
  • 95.08 (n)
oppossum
(Monodelphis domestica)
Mammalia THOC1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THOC1 33 34
  • 93.4 (n)
mouse
(Mus musculus)
Mammalia Thoc1 33 16 34
  • 90.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THOC1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves THOC1 33 34
  • 80.69 (n)
lizard
(Anolis carolinensis)
Reptilia THOC1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thoc1 33
  • 74.68 (n)
Str.6752 33
zebrafish
(Danio rerio)
Actinopterygii thoc1 33 34
  • 70.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hpr1 33 34
  • 50.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004070 33
  • 49.38 (n)
worm
(Caenorhabditis elegans)
Secernentea thoc-1 33 34
  • 47.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1856 34
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3777 33
Species where no ortholog for THOC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for THOC1 Gene

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

Paralogs for THOC1 Gene

No data available for Paralogs for THOC1 Gene

Variants for THOC1 Gene

Sequence variations from dbSNP and Humsavar for THOC1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000153513 -- 229,923(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000254630 -- 252,101(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000342237 -- 233,318(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000353012 -- 265,047(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000363292 -- 258,969(-) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for THOC1 Gene

Variant ID Type Subtype PubMed ID
dgv3301n100 CNV gain 25217958
dgv3302n100 CNV gain 25217958
dgv3303n100 CNV gain 25217958
esv3366076 CNV insertion 20981092
esv3573886 CNV gain 25503493
esv3641472 CNV loss 21293372
esv3641473 CNV gain 21293372
esv3641475 CNV gain 21293372
nsv1064150 CNV gain 25217958
nsv1066129 CNV gain 25217958
nsv1160503 CNV duplication 26073780
nsv2174 CNV deletion 18451855
nsv482935 CNV loss 15286789
nsv518642 CNV gain 19592680
nsv576227 CNV gain 21841781
nsv576228 CNV loss 21841781

Variation tolerance for THOC1 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THOC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THOC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THOC1 Gene

Disorders for THOC1 Gene

Additional Disease Information for THOC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for THOC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THOC1 Gene

Publications for THOC1 Gene

  1. Recruitment of the human TREX complex to mRNA during splicing. (PMID: 15998806) Masuda S … Reed R (Genes & development 2005) 2 3 4 58
  2. TREX is a conserved complex coupling transcription with messenger RNA export. (PMID: 11979277) Strässer K … Hurt E (Nature 2002) 2 3 4 58
  3. Luzp4 defines a new mRNA export pathway in cancer cells. (PMID: 25662211) Viphakone N … Wilson SA (Nucleic acids research 2015) 3 4 58
  4. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA. (PMID: 23222130) Chi B … Cheng H (Nucleic acids research 2013) 3 4 58
  5. The Thoc1 encoded ribonucleoprotein is a substrate for the NEDD4-1 E3 ubiquitin protein ligase. (PMID: 23460917) Song F … Goodrich DW (PloS one 2013) 3 4 58

Products for THOC1 Gene

  • Addgene plasmids for THOC1

Sources for THOC1 Gene

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