THOC1 (THO complex subunit 1)

Gene

• Entrez ID: 9984
• Gene name: THO complex subunit 1
• Gene symbol: THOC1
• Synonyms (NCBI Gene): DFNA86, HPR1, P84, P84N5
• Chromosome: 18
• Chromosome location: 18p11.32
• Summary: HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045303	hsa-miR-186-5p	CLASH	23622248
MIRT2348676	hsa-miR-105	CLIP-seq
MIRT2348677	hsa-miR-4535	CLIP-seq
MIRT2348678	hsa-miR-4800-5p	CLIP-seq
MIRT2348679	hsa-miR-492	CLIP-seq
MIRT2348680	hsa-miR-548aa	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000346	Component	Transcription export complex	IDA	15833825, 15998806
GO:0000347	Component	THO complex	IDA	15998806
GO:0000445	Component	THO complex part of transcription export complex	IBA
GO:0000445	Component	THO complex part of transcription export complex	IDA	15998806
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15870275, 19059247, 19165146, 22365833, 23299939, 25416956, 26496610, 28514442, 31515488, 32296183, 33961781, 37020021
GO:0005634	Component	Nucleus	IDA	15358532
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7525595
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15358532
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IMP	22144908
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833, 37020021
GO:0051028	Process	MRNA transport	IEA

Other IDs

• MIM: 606930
• HGNC: 19070
• e!Ensembl: ENSG00000079134

Protein

• UniProt ID: Q96FV9
• Protein name: THO complex subunit 1 (Nuclear matrix protein p84) (p84N5) (hTREX84)
• Protein 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:159988
• PDB: 1WXP, 7APK, 7ZNK, 7ZNL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11957	efThoc1	69 → 546	THO complex subunit 1 transcription elongation factor	Family
  PF00531	Death	571 → 652	Death domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: 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 a
• Sequence:

  MSPTPPLFSLPEARTRFTKSTREALNNKNIKPLLSTFSQVPGSENEKKCTLDQAFRGILE
  EEIINHSSCENVLAIISLAIGGVTEGICTASTPFVLLGDVLDCLPLDQCDTIFTFVEKNV
  ATWKSNTFYSAGKNYLLRMCNDLLRRLSKSQNTVFCGRIQLFLARLFPLSEKSGLNLQSQ
  FNLENVTVFNTNEQESTLGQKHTEDREEGMDVEEGEMGDEEAPTTCSIPIDYNLYRKFWS
  LQDYFRNPVQCYEKISWKTFLKYSEEVLAVFKSYKLDDTQASRKKMEELKTGGEHVYFAK
  FLTSEKLMDLQLSDSNFRRHILLQYLILFQYLKGQVKFKSSNYVLTDEQSLWIEDTTKSV
  YQLLSENPPDGERFSKMVEHILNTEENWNSWKNEGCPSFVKERTSDTKPTRIIRKRTAPE
  DFLGKGPTKKILMGNEELTRLWNLCPDNMEACKSETREHMPTLEEFFEEAIEQADPENMV
  ENEYKAVNNSNYGWRALRLLARRSPHFFQPTNQQFKSLPEYLENMVIKLAKELPPPSEEI
  KTGEDEDEEDNDALLKENESPDVRRDKPVTGEQIEVFANKLGEQWKILAPYLEMKDSEIR
  QIECDSEDMKMRAKQLLVAWQDQEGVHATPENLINALNKSGLSDLAESLTNDNETNS

• Sequence length: 657

Pathways

KEGG:

Nucleocytoplasmic transport
Spliceosome

Reactome:

Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA 3'-end processing
RNA Polymerase II Transcription Termination

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hearing loss, autosomal dominant 86	Pathogenic	rs2509932355	RCV003152563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 86	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	11992801, 17121850		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16465385		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15833825, 30061204		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17638875, 22952718	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22952718	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24682263		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22952718		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26545775		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32275681	Associate	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	15737842		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15825968		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	15656986		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22952718	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21329510		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15833825, 30061204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24682263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22952718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25296641, 25494645		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11992801, 12136427, 21329510, 22952718		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15833825		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	26495845		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12136427, 14676122, 15833825, 16388520, 16465385, 21329510, 21996737, 24682263, 26545775		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	15737842		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22952718		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21329510, 22952718	Stimulate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	19071009		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25296641, 25494645		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24682263		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15656986		★☆☆☆☆ Found in Text Mining only