THOC1 THO complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: THOC1provided by HGNC
Official Full Name: THO complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:19070
See related: Ensembl:ENSG00000079134 MIM:606930; AllianceGenome:HGNC:19070
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P84; HPR1; P84N5; DFNA86
Summary: 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. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 6.7), bone marrow (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.32

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (214520..268047, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (368271..422046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (214520..268047, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of THOC1 reduces the proliferation of hepatocellular carcinoma and increases the sensitivity to cisplatin.
Title: Knockdown of THOC1 reduces the proliferation of hepatocellular carcinoma and increases the sensitivity to cisplatin.
THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.
Title: THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.
THO interacts with the Sin3A histone deacetylase complex to suppress co-transcriptional R-loops, DNA damage, and replication impairment. Functional analyses show that histone hypo-acetylation prevents accumulation of harmful R-loops and RNA-mediated genomic instability.
Title: Human THO-Sin3A interaction reveals new mechanisms to prevent R-loops that cause genome instability.
Colorectal cancer patients with high levels of Thoc1 expression had poorer overall-survival and disease-free survival, whereas those with lower levels of Thoc1 expression survived longer.
Title: Elevated expression of Thoc1 is associated with aggressive phenotype and poor prognosis in colorectal cancer.
In humans, high THOC1 protein expression associates with prostate cancer aggressiveness and recurrence. Thus, THOC1 protein is a molecular marker that may improve the identification of aggressive prostate cancers, potentially reducing overtreatment.
Title: The Thoc1 ribonucleoprotein and prostate cancer progression.
Thoc1 inhibits cell growth via induction of cell cycle arrest and apoptosis in lung cancer cells.
Title: Thoc1 inhibits cell growth via induction of cell cycle arrest and apoptosis in lung cancer cells.
This suggests NEDD4-1 functions in conjunction with other post-translational mechanisms to regulate Thoc1 protein and THO activity.
Title: The Thoc1 encoded ribonucleoprotein is a substrate for the NEDD4-1 E3 ubiquitin protein ligase.
overexpression of hTREX84 is associated with cancer cell transformation, proliferation and may be regulated by RelA/p65
Title: Transcriptional regulation of hTREX84 in human cancer cells.
We show that human THO depletion impairs transcription elongation and mRNA export and increases instability associated with DNA breaks, leading to hyper-recombination and gammaH2AX and 53BP1 foci accumulation
Title: Genome instability and transcription elongation impairment in human cells depleted of THO/TREX.
A differential connection between tumorogenesis and the expression levels of human THO and ALY.
Title: Differential expression of THOC1 and ALY mRNP biogenesis/export factors in human cancers.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hearing loss, autosomal dominant 86 MedGen: C5830340 OMIM: 620280 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17645 (e-PCR)
- UniSTS:53277

D18S100 (e-PCR)
- UniSTS:147779

Thoc1 (e-PCR), detects polymorphism
- UniSTS:497276

RH47243 (e-PCR)
- UniSTS:37029

SHGC-30016 (e-PCR)
- UniSTS:12971

D18S550 (e-PCR)
- UniSTS:148685

D18S552 (e-PCR)
- UniSTS:148687

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of THO complex	IDA Inferred from Direct Assay more info	PubMed
part_of THO complex part of transcription export complex	IBA Inferred from Biological aspect of Ancestor more info
part_of THO complex part of transcription export complex	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription export complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: THO complex subunit 1

Names: THO complex 1; hTREX84; nuclear matrix protein p84; tho1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005131.3 → NP_005122.2 THO complex subunit 1

See identical proteins and their annotated locations for NP_005122.2

Status: VALIDATED

Source sequence(s)

AK225709, AP000845, BC010381, DA902294

Consensus CDS

CCDS45820.1

UniProtKB/Swiss-Prot

B2RBP6, Q15219, Q64I72, Q64I73, Q96FV9

Related

ENSP00000261600.6, ENST00000261600.11

Conserved Domains (2) summary

cd08318
Location:565 → 650

Death_NMPP84; Death domain of Nuclear Matrix Protein P84

pfam11957
Location:74 → 539

efThoc1; THO complex subunit 1 transcription elongation factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

214520..268047 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525772.4 → XP_011524074.1 THO complex subunit 1 isoform X1

Conserved Domains (2) summary

cd08318
Location:572 → 657

Death_NMPP84; Death domain of Nuclear Matrix Protein P84

pfam11957
Location:74 → 546

efThoc1; THO complex subunit 1 transcription elongation factor
XM_047437972.1 → XP_047293928.1 THO complex subunit 1 isoform X2

Related

ENST00000578529.5
XM_011525774.2 → XP_011524076.1 THO complex subunit 1 isoform X3

Related

ENST00000583228.5

Conserved Domains (2) summary

cd08318
Location:265 → 350

Death_NMPP84; Death domain of Nuclear Matrix Protein P84

pfam11957
Location:1 → 239

efThoc1; THO complex subunit 1 transcription elongation factor
XM_017026104.2 → XP_016881593.1 THO complex subunit 1 isoform X4

Related

ENST00000582313.5