THOC1
entrez
9984
canonical
uniprot
Q96FV9
canonical
ensembl
ENSG00000079134
resolver
ensp
ENSP00000261600
resolver
genesymbol
THOC1
resolver
genesymbol_syn
HPR1
resolver
hgnc
HGNC:19070
resolver
uniprot
B2RBP6
resolver
uniprot
Q15219
resolver
uniprot
Q64I72
resolver
uniprot
Q64I73
resolver
uniprot_entry
THOC1_HUMAN
resolver
uniprot_sec
B2RBP6
resolver
uniprot_sec
Q15219
resolver
uniprot_sec
Q64I72
resolver
uniprot_sec
Q64I73
resolver
amino_acid_sequence
MSPTPPLFSLPEARTRFTKSTREALNNKNIKPLLSTFSQVPGSENEKKCTLDQAFRGILEEEIINHSSCENVLAIISLAIGGVTEGICTASTPFVLLGDVLDCLPLDQCDTIFTFVEKNVATWKSNTFYSAGKNYLLRMCNDLLRRLSKSQNTVFCGRIQLFLARLFPLSEKSGLNLQSQFNLENVTVFNTNEQESTLGQKHTEDREEGMDVEEGEMGDEEAPTTCSIPIDYNLYRKFWSLQDYFRNPVQCYEKISWKTFLKYSEEVLAVFKSYKLDDTQASRKKMEELKTGGEHVYFAKFLTSEKLMDLQLSDSNFRRHILLQYLILFQYLKGQVKFKSSNYVLTDEQSLWIEDTTKSVYQLLSENPPDGERFSKMVEHILNTEENWNSWKNEGCPSFVKERTSDTKPTRIIRKRTAPEDFLGKGPTKKILMGNEELTRLWNLCPDNMEACKSETREHMPTLEEFFEEAIEQADPENMVENEYKAVNNSNYGWRALRLLARRSPHFFQPTNQQFKSLPEYLENMVIKLAKELPPPSEEIKTGEDEDEEDNDALLKENESPDVRRDKPVTGEQIEVFANKLGEQWKILAPYLEMKDSEIRQIECDSEDMKMRAKQLLVAWQDQEGVHATPENLINALNKSGLSDLAESLTNDNETNS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 86 (DFNA86) [MIM:620280]: A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA86 is characterized by progressive, bilateral hearing loss that is most predominant in the high frequencies, begins mildly during the fourth decade and gradually progresses to severe-to-profound deafness in the seventh and eighth decades. Affected subjects have tinnitus, while vestibular dysfunction or other clinical abnormalities are not present. {ECO:0000269|PubMed:32776944}. 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). Required for efficient export of polyadenylated RNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B/UAP56 (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:15833825, PubMed:15998806, PubMed:17190602). Regulates transcriptional elongation of a subset of genes (PubMed:22144908). Involved in genome stability by preventing co-transcriptional R-loop formation (By similarity). May play a role in hair cell formation, hence may be involved in hearing (By similarity). {ECO:0000250|UniProtKB:Q7SYB2, ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:22144908, ECO:0000269|PubMed:23222130, ECO:0000269|PubMed:33191911}.; 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.; 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
75666
uniprot
proteins
mutagenesis
MUTAGEN 617; /note="L->P: Loss of ability to induce apoptosis. Interferes with normal response of SaOS-2 cells to radiation."; /evidence="ECO:0000269|PubMed:10512864"; MUTAGEN 620; /note="W->P,R: Loss of ability to induce apoptosis. Interferes with normal response of SaOS-2 cells to radiation."; /evidence="ECO:0000269|PubMed:10512864
uniprot
proteins
post_translational_modification
PTM: Expression is altered specifically during apoptosis and is accompanied by the appearance of novel forms with smaller apparent molecular mass.; PTM: Polyubiquitinated, leading to proteasomal degradation; probably involves NEDD4. {ECO:0000269|PubMed:23460917}.
uniprot
proteins
protein_family
THOC1 family
uniprot
proteins
pubmed
10512864
uniprot
proteins
pubmed
10840029
uniprot
proteins
pubmed
11050087
uniprot
proteins
pubmed
11979277
uniprot
proteins
pubmed
12096345
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15358532
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15833825
uniprot
proteins
pubmed
15870275
uniprot
proteins
pubmed
15998806
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17190602
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18974867
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22144908
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23222130
uniprot
proteins
pubmed
23460917
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25662211
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32776944
uniprot
proteins
pubmed
33191911
uniprot
proteins
pubmed
37020021
uniprot
proteins
pubmed
7525595
uniprot
proteins
sequence_length
657
uniprot
proteins
subcellular_location
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.
uniprot
proteins