Nuclear Matrix Protein p84

An intact death domain is needed for apoptosis.

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).

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.

(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.

Deafness, autosomal dominant, 86

DFNA86

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

Belongs to the THOC1 family.

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.

• Isoform 1
• Nucleus speckle
• Nucleus
• Nucleoplasm
• Nucleus matrix
• Cytoplasm
• 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

HPR1, THOC1, THO complex subunit 1, Nuclear matrix protein p84, hTREX84, p84N5

• entrezGene:9984
• omim:606930
• swissprot:Q96FV9

Proteins

Oncology

75666Da