THOC6
entrez
79228
canonical
uniprot
Q86W42
canonical
ensembl
ENSG00000131652
resolver
ensp
ENSP00000253952
resolver
ensp
ENSP00000326531
resolver
ensp
ENSP00000458295
resolver
genesymbol
THOC6
resolver
genesymbol_syn
WDR58
resolver
hgnc
HGNC:28369
resolver
uniprot
B2RA85
resolver
uniprot
Q8NBR1
resolver
uniprot
Q9BTV9
resolver
uniprot_entry
THOC6_HUMAN
resolver
uniprot_sec
B2RA85
resolver
uniprot_sec
Q8NBR1
resolver
uniprot_sec
Q9BTV9
resolver
amino_acid_sequence
MERAVPLAVPLGQTEVFQALQRLHMTIFSQSVSPCGKFLAAGNNYGQIAIFSLSSALSSEAKEESKKPVVTFQAHDGPVYSMVSTDRHLLSAGDGEVKAWLWAEMLKKGCKELWRRQPPYRTSLEVPEINALLLVPKENSLILAGGDCQLHTMDLETGTFTRVLRGHTDYIHCLALRERSPEVLSGGEDGAVRLWDLRTAKEVQTIEVYKHEECSRPHNGRWIGCLATDSDWMVCGGGPALTLWHLRSSTPTTIFPIRAPQKHVTFYQDLILSAGQGRCVNQWQLSGELKAQVPGSSPGLLSLSLNQQPAAPECKVLTAAGNSCRVDVFTNLGYRAFSLSF
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 (PubMed:15833825, PubMed:15998806, PubMed:17190602). Plays a key structural role in the oligomerization of the THO-DDX39B complex (PubMed:33191911). 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/NXF1 pathway (PubMed:15998806, PubMed:17190602). Plays a role in apoptosis negative control involved in brain development (PubMed:15833825, PubMed:23621916). {ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:23621916, ECO:0000269|PubMed:33191911}.; FUNCTION: (Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. {ECO:0000269|PubMed:18974867}.
uniprot
proteins
mass_dalton
37535
uniprot
proteins
protein_family
WD repeat THOC6 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15833825
uniprot
proteins
pubmed
15998806
uniprot
proteins
pubmed
17190602
uniprot
proteins
pubmed
18974867
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23621916
uniprot
proteins
pubmed
33191911
uniprot
proteins
pubmed
37020021
uniprot
proteins
sequence_length
341
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23621916}. Nucleus speckle {ECO:0000305|PubMed:23621916}.
uniprot
proteins