THOC5 Gene (Protein Coding)

THO Complex 5

GC22M029505
GIFtS:
37
See more...

Aliases for THOC5 Gene

Aliases for THOC5 Gene

  • THO Complex 5 2 3 5
  • Functional Spliceosome-Associated Protein 79 2 3 4
  • FSAP79 2 3 4
  • NF2/Meningioma Region Protein PK1.3 3 4
  • THO Complex Subunit 5 Homolog 3 4
  • Placental Protein 39.2 3 4
  • C22orf19 3 4
  • KIAA0983 2 4
  • HTREX90 3 4
  • PP39.2 3 4
  • PK1.3 2 3
  • Fmip 2 3
  • Chromosome 22 Open Reading Frame 19 2
  • Fms-Interacting Protein 3
  • THOC5 5

External Ids for THOC5 Gene

Previous HGNC Symbols for THOC5 Gene

  • C22orf19

Previous GeneCards Identifiers for THOC5 Gene

  • GC00U902870
  • GC22M028231
  • GC22M029901
  • GC22M012867

Summaries for THOC5 Gene

GeneCards Summary for THOC5 Gene

THOC5 (THO Complex 5) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and RNA Polymerase II Transcription Termination. Gene Ontology (GO) annotations related to this gene include mRNA binding.

UniProtKB/Swiss-Prot Summary for THOC5 Gene

  • 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 Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probably mediates association of the TREX and CFIm complexes.
  • Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic development.

Gene Wiki entry for THOC5 Gene

Additional gene information for THOC5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THOC5 Gene

Genomics for THOC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for THOC5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THOC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THOC5

Top Transcription factor binding sites by QIAGEN in the THOC5 gene promoter:
  • E47
  • p53
  • Tal-1beta
  • ZID

Genomic Locations for THOC5 Gene

Latest Assembly
chr22:29,505,879-29,555,216
(GRCh38/hg38)
Size:
49,338 bases
Orientation:
Minus strand

Previous Assembly
chr22:29,901,868-29,949,746
(GRCh37/hg19 by Entrez Gene)
Size:
47,879 bases
Orientation:
Minus strand

chr22:29,901,868-29,951,205
(GRCh37/hg19 by Ensembl)
Size:
49,338 bases
Orientation:
Minus strand

Genomic View for THOC5 Gene

Genes around THOC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOC5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for THOC5 Gene

Proteins for THOC5 Gene

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  • Protein details for THOC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13769-THOC5_HUMAN
    Recommended name:
    THO complex subunit 5 homolog
    Protein Accession:
    Q13769
    Secondary Accessions:
    • O60839
    • Q9UPZ5

    Protein attributes for THOC5 Gene

    Size:
    683 amino acids
    Molecular mass:
    78508 Da
    Quaternary structure:
    • Interacts with phosphorylated CSF1R (By similarity). 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. Interacts with ALYREF/THOC4, and THOC7. Interacts (via N-terminus) with the NTF2 domain of NXF1. Forms a complex with CEBPB. Interacts with CPSF6; indicative for an association with the cleavage factor Im (CFIm) complex. Interacts with THOC1 (By similarity). Interacts with LUZP4. Interacts with NCBP3 (PubMed:26382858).
    SequenceCaution:
    • Sequence=BAA76827.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for THOC5 Gene

Protein Expression for THOC5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for THOC5 Gene

  • Phosphorylated on tyrosine upon binding to activated CSF1R; which causes a dissociation of the two proteins. Phosphorylation on Ser-5 and/or Ser-6 is required for nuclear export. Phosphorylated on Thr-328 in insulin-stimulated adipocytes (By similarity). Phosphorylation at Tyr-225 modulates mRNA binding.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THOC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for THOC5

No data available for DME Specific Peptides for THOC5 Gene

Domains & Families for THOC5 Gene

Gene Families for THOC5 Gene

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

Protein Domains for THOC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for THOC5 Gene

GenScript: Design optimal peptide antigens:
  • hTREX90 (THOC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13769

UniProtKB/Swiss-Prot:

THOC5_HUMAN :
  • Belongs to the THOC5 family.
Family:
  • Belongs to the THOC5 family.
genes like me logo Genes that share domains with THOC5: view

Function for THOC5 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for THOC5 Gene

UniProtKB/Swiss-Prot Function:
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 Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in transcription elongation and genome stability. Involved in alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probably mediates association of the TREX and CFIm complexes.
UniProtKB/Swiss-Prot Function:
Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic development.

Phenotypes From GWAS Catalog for THOC5 Gene

Gene Ontology (GO) - Molecular Function for THOC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 19059247
genes like me logo Genes that share ontologies with THOC5: view
genes like me logo Genes that share phenotypes with THOC5: view

Animal Models for THOC5 Gene

MGI Knock Outs for THOC5:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THOC5

Clone products for research

  • Addgene plasmids for THOC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for THOC5 Gene

Localization for THOC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOC5 Gene

Nucleus. Cytoplasm. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269 PubMed:19059247}.

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 THOC5 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THOC5 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 IBA,IDA 15998806
GO:0000781 colocalizes_with chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IEA,IDA 19059247
genes like me logo Genes that share ontologies with THOC5: view

Pathways & Interactions for THOC5 Gene

genes like me logo Genes that share pathways with THOC5: view

SIGNOR curated interactions for THOC5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for THOC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus IBA,TAS --
GO:0008380 RNA splicing IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with THOC5: view

Drugs & Compounds for THOC5 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for THOC5 Gene

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  2. miRNA products for research
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mRNA/cDNA for THOC5 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THOC5

Clone products for research

  • Addgene plasmids for THOC5

Alternative Splicing Database (ASD) splice patterns (SP) for THOC5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - -
SP2: - - - - -
SP3: - -
SP4: -
SP5:

ExUns: 24b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for THOC5 Gene

GeneLoc Exon Structure for
THOC5

Expression for THOC5 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THOC5 Gene

mRNA expression in normal human tissues for THOC5 Gene
mRNA expression by GTEx for THOC5 GenemRNA expression by BioGPS for THOC5 Gene

mRNA differential expression in normal tissues according to GTEx for THOC5 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for THOC5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.1) and Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for THOC5 Gene



Protein tissue co-expression partners for THOC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THOC5

SOURCE GeneReport for Unigene cluster for THOC5 Gene:

Hs.75361

mRNA Expression by UniProt/SwissProt for THOC5 Gene:

Q13769-THOC5_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for THOC5 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with THOC5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for THOC5 Gene

Orthologs for THOC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for THOC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia THOC5 30 31
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia THOC5 30 31
  • 92.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia THOC5 30 31
  • 91.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Thoc5 30
  • 90.37 (n)
Mouse
(Mus musculus)
 Mammalia Thoc5 30 17 31
  • 89.8 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia THOC5 31
  • 88 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 86 (a)
 OneToMany
-- 31
  • 70 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves THOC5 30 31
  • 78.76 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia THOC5 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia thoc5 30
  • 70.16 (n)
African clawed frog
(Xenopus laevis)
 Amphibia fmip-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii thoc5 30 31
  • 66.62 (n)
 OneToOne
Dr.2250 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004746 30
  • 45.18 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta thoc5 30 31
  • 44.6 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea Y32H12A.2 31
  • 25 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToOne
Species where no ortholog for THOC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 THOC5 Gene

ENSEMBL:
Gene Tree for THOC5 (if available)
TreeFam:
Gene Tree for THOC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THOC5: view image

Paralogs for THOC5 Gene

No data available for Paralogs for THOC5 Gene

Variants for THOC5 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THOC5 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1264823745 A breast cancer sample p.Thr380Lys
rs1280359906 A breast cancer sample p.Gly499Ser
rs16987733 Benign: not provided 29,512,036(-) G/A
NM_001002877.2(THOC5):c.1782C>T (p.Asn594=) 		SYNONYMOUS
rs35832657 Benign: not provided 29,517,289(-) C/T
NM_003678.5(THOC5):c.1567G>A (p.Val523Met) 		MISSENSE
rs1049534 - p.Val579Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THOC5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for THOC5 Gene

Variant ID Type Subtype PubMed ID
esv2724126 CNV deletion 23290073
esv3568351 CNV loss 25503493
esv3647536 CNV gain 21293372
esv3647538 CNV gain 21293372
esv3647539 CNV gain 21293372
esv3893473 CNV loss 25118596
nsv1110864 OTHER inversion 24896259
nsv510513 OTHER sequence alteration 20534489
nsv834172 CNV loss 17160897

Variation tolerance for THOC5 Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.24; 88.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THOC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THOC5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THOC5 Gene

Disorders for THOC5 Gene

Additional Disease Information for THOC5

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for THOC5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THOC5 Gene

Publications for THOC5 Gene

  1. Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). (PMID: 19059247) El Bounkari O … Tamura T (FEBS letters 2009) 3 4 23
  2. THOC5 spliceosome protein: a target for leukaemogenic tyrosine kinases that affects inositol lipid turnover. (PMID: 18373705) Pierce A … Whetton AD (British journal of haematology 2008) 2 3 4
  3. Recruitment of the human TREX complex to mRNA during splicing. (PMID: 15998806) Masuda S … Reed R (Genes & development 2005) 2 3 4
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  5. Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. (PMID: 8242058) Xie YG … Dumanski JP (Human molecular genetics 1993) 2 3 4

ExternalLinks

View latest publications for THOC5 gene in Mastermind

Products for THOC5 Gene

  • Addgene plasmids for THOC5

Sources for THOC5 Gene