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Aliases for THOC6 Gene

Aliases for THOC6 Gene

  • THO Complex 6 2 3 5
  • Functional Spliceosome-Associated Protein 35 2 3 4
  • WD Repeat-Containing Protein 58 3 4
  • WD Repeat Domain 58 2 3
  • FSAP35 3 4
  • WDR58 3 4
  • THO Complex 6 Homolog (Drosophila) 2
  • THO Complex 6 Homolog 3
  • BBIS 3

External Ids for THOC6 Gene

Previous HGNC Symbols for THOC6 Gene

  • WDR58

Previous GeneCards Identifiers for THOC6 Gene

  • GC16P003017
  • GC16P003079
  • GC16P003045
  • GC16P003080
  • GC16P003081
  • GC16P003113
  • GC16P003128
  • GC16P003152

Summaries for THOC6 Gene

GeneCards Summary for THOC6 Gene

THOC6 (THO Complex 6) is a Protein Coding gene. Diseases associated with THOC6 include beaulieu-boycott-innes syndrome and developmental delay-microcephaly-facial dysmorphism syndrome, hutterite type. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for THOC6 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 Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THOC6 Gene

Genomics for THOC6 Gene

Regulatory Elements for THOC6 Gene

Promoters for THOC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around THOC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for THOC6 Gene

Chromosome:
16
Start:
3,024,027 bp from pter
End:
3,027,755 bp from pter
Size:
3,729 bases
Orientation:
Plus strand

Genomic View for THOC6 Gene

Genes around THOC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THOC6 Gene

Proteins for THOC6 Gene

  • Protein details for THOC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W42-THOC6_HUMAN
    Recommended name:
    THO complex subunit 6 homolog
    Protein Accession:
    Q86W42
    Secondary Accessions:
    • B2RA85
    • Q8NBR1
    • Q9BTV9

    Protein attributes for THOC6 Gene

    Size:
    341 amino acids
    Molecular mass:
    37535 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.
    SequenceCaution:
    • Sequence=BAG36782.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for THOC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THOC6 Gene

Proteomics data for THOC6 Gene at MOPED

Post-translational modifications for THOC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THOC6 Gene

No data available for DME Specific Peptides for THOC6 Gene

Domains & Families for THOC6 Gene

Gene Families for THOC6 Gene

Protein Domains for THOC6 Gene

Suggested Antigen Peptide Sequences for THOC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86W42

UniProtKB/Swiss-Prot:

THOC6_HUMAN :
  • Belongs to the WD repeat THOC6 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat THOC6 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with THOC6: view

Function for THOC6 Gene

Molecular function for THOC6 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 Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.
genes like me logo Genes that share phenotypes with THOC6: view

Human Phenotype Ontology for THOC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for THOC6 Gene

miRTarBase miRNAs that target THOC6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for THOC6 Gene

Localization for THOC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOC6 Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THOC6 Gene COMPARTMENTS Subcellular localization image for THOC6 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for THOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000347 THO complex IDA 15998806
GO:0005634 nucleus IDA 23621916
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with THOC6: view

Pathways & Interactions for THOC6 Gene

genes like me logo Genes that share pathways with THOC6: view

Gene Ontology (GO) - Biological Process for THOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006406 mRNA export from nucleus IDA,TAS --
GO:0006915 apoptotic process IEA --
GO:0043066 negative regulation of apoptotic process IMP 23621916
GO:0046784 viral mRNA export from host cell nucleus IDA 18974867
genes like me logo Genes that share ontologies with THOC6: view

No data available for SIGNOR curated interactions for THOC6 Gene

Drugs & Compounds for THOC6 Gene

No Compound Related Data Available

Transcripts for THOC6 Gene

Unigene Clusters for THOC6 Gene

THO complex 6 homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for THOC6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2:
SP3:

Relevant External Links for THOC6 Gene

GeneLoc Exon Structure for
THOC6
ECgene alternative splicing isoforms for
THOC6

Expression for THOC6 Gene

mRNA expression in normal human tissues for THOC6 Gene

Protein differential expression in normal tissues from HIPED for THOC6 Gene

This gene is overexpressed in Liver (8.4) and Fetal gut (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for THOC6 Gene



SOURCE GeneReport for Unigene cluster for THOC6 Gene Hs.412304

genes like me logo Genes that share expression patterns with THOC6: view

Protein tissue co-expression partners for THOC6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for THOC6 Gene

Orthologs for THOC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for THOC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THOC6 35
  • 99.61 (n)
  • 99.71 (a)
THOC6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THOC6 36
  • 96 (a)
OneToOne
THOC6 35
  • 90.42 (n)
  • 95.6 (a)
dog
(Canis familiaris)
Mammalia THOC6 35
  • 89.64 (n)
  • 97.36 (a)
THOC6 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thoc6 16
Thoc6 36
  • 95 (a)
OneToOne
Thoc6 35
  • 86.8 (n)
  • 95.31 (a)
oppossum
(Monodelphis domestica)
Mammalia THOC6 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THOC6 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thoc6 35
  • 87.39 (n)
  • 95.89 (a)
lizard
(Anolis carolinensis)
Reptilia THOC6 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498236 35
  • 63.72 (n)
  • 62.2 (a)
Str.14482 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7460 35
zebrafish
(Danio rerio)
Actinopterygii thoc6 35
  • 61.46 (n)
  • 59.69 (a)
wufb96g04 35
thoc6 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005429 35
  • 48.59 (n)
  • 36.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta thoc6 36
  • 25 (a)
OneToOne
thoc6 35
  • 42.93 (n)
  • 30.42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.830 36
  • 35 (a)
OneToOne
Species with no ortholog for THOC6:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for THOC6 Gene

ENSEMBL:
Gene Tree for THOC6 (if available)
TreeFam:
Gene Tree for THOC6 (if available)

Paralogs for THOC6 Gene

No data available for Paralogs for THOC6 Gene

Variants for THOC6 Gene

Sequence variations from dbSNP and Humsavar for THOC6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_069779 Beaulieu-Boycott-Innes syndrome (BBIS)
rs960274 -- 3,026,662(-) GGGGC(A/G)ATGTC intron-variant
rs8057262 -- 3,026,392(+) ATCAA(C/T)GCTTT reference, synonymous-codon
rs34472080 -- 3,026,368(-) AGGCT(A/G)GTCCT reference, synonymous-codon
rs35581133 -- 3,026,429(+) ATGTG(-/C)ACTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for THOC6 Gene

Variant ID Type Subtype PubMed ID
nsv905162 CNV Gain 21882294
nsv905170 CNV Loss 21882294
dgv2575n71 CNV Loss 21882294
dgv2576n71 CNV Loss 21882294
nsv509588 CNV Insertion 20534489
nsv510673 CNV Loss 20534489
nsv905185 CNV Loss 21882294
dgv2577n71 CNV Loss 21882294
dgv2578n71 CNV Loss 21882294
nsv905193 CNV Loss 21882294
dgv2579n71 CNV Loss 21882294
nsv905197 CNV Loss 21882294
nsv833125 CNV Loss 17160897

Variation tolerance for THOC6 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THOC6 Gene

HapMap Linkage Disequilibrium report
THOC6
Human Gene Mutation Database (HGMD)
THOC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THOC6 Gene

Disorders for THOC6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THOC6 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
beaulieu-boycott-innes syndrome
  • microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
developmental delay-microcephaly-facial dysmorphism syndrome, hutterite type
- elite association - COSMIC cancer census association via MalaCards
Search THOC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THOC6_HUMAN
  • Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680]: An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. {ECO:0000269 PubMed:23621916}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for THOC6

Genetic Association Database (GAD)
THOC6
Human Genome Epidemiology (HuGE) Navigator
THOC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THOC6
genes like me logo Genes that share disorders with THOC6: view

No data available for Genatlas for THOC6 Gene

Publications for THOC6 Gene

  1. Recruitment of the human TREX complex to mRNA during splicing. (PMID: 15998806) Masuda S. … Reed R. (Genes Dev. 2005) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 3
  4. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  5. Characterizing WW domain interactions of tumor suppressor WWOX reveals its association with multiprotein networks. (PMID: 24550385) Abu-Odeh M. … Aqeilan R.I. (J. Biol. Chem. 2014) 3

Products for THOC6 Gene

Sources for THOC6 Gene

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