THOC1 Gene

HGNC Family	THO complex (THOC)
Name	THO complex 1
Description	Predicted to enable DNA binding activity and RNA binding activity. Involved in mRNA export from nucleus. Located in chromosome, telomeric region; cytoplasm; and nuclear speck. Part of THO complex part of transcription export complex. Implicated in autosomal dominant nonsyndromic deafness 86. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTHOC1 is a core component of the evolutionarily conserved THO/TREX complex that facilitates proper gene expression by physically linking transcription elongation with RNA processing. In human cells, THOC1 associates with elongating RNA polymerase II and with factors involved in splicing and mRNA export, thereby ensuring that only fully processed (spliced) transcripts proceed through the gene expression pathway."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in mRNP biogenesis, THOC1 is critical for preserving genome integrity. Studies in mammalian cells have demonstrated that depletion of THO components, including THOC1, disrupts transcriptional elongation and mRNA export, leading to the accumulation of R-loops—aberrant DNA–RNA hybrid structures that cause DNA breaks, replication fork stalling, and genomic instability. Intriguingly, THOC1’s interaction with chromatin regulatory complexes such as the Sin3A histone deacetylase complex further contributes to suppressing harmful R-loop formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAberrant expression of THOC1 has been documented in a spectrum of human diseases, most notably in various cancers and hereditary conditions. Elevated THOC1 levels are observed in breast, ovarian, and hepatocellular carcinomas, where its overexpression correlates with larger tumor size, metastasis, and poor patient prognosis; moreover, THOC1 expression has been implicated as a functionally relevant biomarker that may distinguish aggressive disease states in prostate and colorectal cancers, as well as in non‐small cell lung cancer. In contrast, experimental overexpression in certain lung cancer cell lines has been shown to inhibit cell proliferation via cell cycle arrest and induction of apoptosis, suggesting a complex, context-dependent role. In the auditory system, a missense mutation in THOC1 has been linked to late-onset progressive hearing loss, where THOC1 deficiency triggers p53-mediated apoptosis of cochlear hair cells. These studies highlight the multifaceted implications of altered THOC1 expression in both tumorigenesis and tissue-specific degenerative disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurthermore, THOC1 protein levels are subject to post-translational regulation by the ubiquitin–proteasome system. Specifically, THOC1 is poly-ubiquitinated by the NEDD4-1 E3 ubiquitin ligase, a modification that regulates its stability and thereby modulates the activity of the THO complex during transcription elongation and mRNA processing."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Seiji Masuda, Rita Das, Hong Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recruitment of the human TREX complex to mRNA during splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.1302205"}], "href": "https://doi.org/10.1101/gad.1302205"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15998806"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15998806"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yanping Li, Xiaoling Wang, Xiaojing Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human hHpr1/p84/Thoc1 regulates transcriptional elongation and physically links RNA polymerase II and RNA processing factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.25.10.4023-4033.2005"}], "href": "https://doi.org/10.1128/MCB.25.10.4023-4033.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15870275"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15870275"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "María S Domínguez-Sánchez, Sonia Barroso, Belén Gómez-González, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome instability and transcription elongation impairment in human cells depleted of THO/TREX."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002386"}], "href": "https://doi.org/10.1371/journal.pgen.1002386"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22144908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22144908"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Irene Salas-Armenteros, Carmen Pérez-Calero, Aleix Bayona-Feliu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human THO-Sin3A interaction reveals new mechanisms to prevent R-loops that cause genome instability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201797208"}], "href": "https://doi.org/10.15252/embj.201797208"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29074626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29074626"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yanping Li, Athena W Lin, Xiaojing Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cancer cells and normal cells differ in their requirements for Thoc1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-06-3234"}], "href": "https://doi.org/10.1158/0008-5472.CAN-06-3234"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17638875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17638875"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Luping Zhang, Yu Gao, Ru Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1008953"}], "href": "https://doi.org/10.1371/journal.pgen.1008953"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32776944"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32776944"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Meenalakshmi Chinnam, Yanqing Wang, Xiaojing Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Thoc1 ribonucleoprotein and prostate cancer progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Natl Cancer Inst (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jnci/dju306"}], "href": "https://doi.org/10.1093/jnci/dju306"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25296641"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25296641"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Chenchen Liu, Ben Yue, Chenwei Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elevated expression of Thoc1 is associated with aggressive phenotype and poor prognosis in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2015.10.166"}], "href": "https://doi.org/10.1016/j.bbrc.2015.10.166"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26545775"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26545775"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jun Yang, Yanping Li, Thaer Khoury, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Relationships of hHpr1/p84/Thoc1 expression to clinicopathologic characteristics and prognosis in non-small cell lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Clin Lab Sci (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18469354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18469354"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jianmei Wan, Shitao Zou, Mengshang Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thoc1 inhibits cell growth via induction of cell cycle arrest and apoptosis in lung cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2014.2088"}], "href": "https://doi.org/10.3892/mmr.2014.2088"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24682263"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24682263"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Shanchun Guo, Mingli Liu, Andrew K Godwin "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional regulation of hTREX84 in human cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0043610"}], "href": "https://doi.org/10.1371/journal.pone.0043610"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22952718"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22952718"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "María S Domínguez-Sánchez, Carmen Sáez, Miguel A Japón, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential expression of THOC1 and ALY mRNP biogenesis/export factors in human cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2407-11-77"}], "href": "https://doi.org/10.1186/1471-2407-11-77"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21329510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21329510"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Shijiao Cai, Yunpeng Bai, Huan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of THOC1 reduces the proliferation of hepatocellular carcinoma and increases the sensitivity to cisplatin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-020-01634-7"}], "href": "https://doi.org/10.1186/s13046-020-01634-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32669125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32669125"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Fei Song, Chuandong Fan, Xinjiang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Thoc1 encoded ribonucleoprotein is a substrate for the NEDD4-1 E3 ubiquitin protein ligase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0057995"}], "href": "https://doi.org/10.1371/journal.pone.0057995"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23460917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23460917"}]}]}]}
Synonyms	P84N5, P84, HPR1
Proteins	THOC1_HUMAN
NCBI Gene ID	9984
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

THOC1 has 6,776 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 122 datasets.

Click the + buttons to view associations for THOC1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

THOC1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of THOC1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of THOC1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of THOC1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of THOC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of THOC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of THOC1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of THOC1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of THOC1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of THOC1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of THOC1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of THOC1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of THOC1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with THOC1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with THOC1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of THOC1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of THOC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of THOC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing THOC1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of THOC1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing THOC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing THOC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing THOC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing THOC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with THOC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with THOC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing THOC1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of THOC1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with THOC1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with THOC1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving THOC1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with THOC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with THOC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with THOC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with THOC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with THOC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at THOC1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of THOC1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of THOC1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing THOC1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with THOC1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.