• Gene id: 9984

Gene Summary

• Gene Symbol: THOC1   Gene   UCSC   Ensembl
• Aliases: HPR1, P84, P84N5
• Gene name: THO complex 1
• Alternate names: THO complex subunit 1, hTREX84, nuclear matrix protein p84, tho1,
• Gene location: 18p11.32 (268046: 214347)     Exons: 23     NC_000018.10
• Gene summary(Entrez): 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]
• OMIM: 606930

Protein Summary

• Protein general information: Q96FV9  
  • Name: THO complex subunit 1 (Tho1) (Nuclear matrix protein p84) (p84N5) (hTREX84)
  • Length: 657  
  • Mass: 75666
  • 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:

  MSPTPPLFSLPEARTRFTKSTREALNNKNIKPLLSTFSQVPGSENEKKCTLDQAFRGILEEEIINHSSCENVLAI
  ISLAIGGVTEGICTASTPFVLLGDVLDCLPLDQCDTIFTFVEKNVATWKSNTFYSAGKNYLLRMCNDLLRRLSKS
  QNTVFCGRIQLFLARLFPLSEKSGLNLQSQFNLENVTVFNTNEQESTLGQKHTEDREEGMDVEEGEMGDEEAPTT
  CSIPIDYNLYRKFWSLQDYFRNPVQCYEKISWKTFLKYSEEVLAVFKSYKLDDTQASRKKMEELKTGGEHVYFAK
  FLTSEKLMDLQLSDSNFRRHILLQYLILFQYLKGQVKFKSSNYVLTDEQSLWIEDTTKSVYQLLSENPPDGERFS
  KMVEHILNTEENWNSWKNEGCPSFVKERTSDTKPTRIIRKRTAPEDFLGKGPTKKILMGNEELTRLWNLCPDNME
  ACKSETREHMPTLEEFFEEAIEQADPENMVENEYKAVNNSNYGWRALRLLARRSPHFFQPTNQQFKSLPEYLENM
  VIKLAKELPPPSEEIKTGEDEDEEDNDALLKENESPDVRRDKPVTGEQIEVFANKLGEQWKILAPYLEMKDSEIR
  QIECDSEDMKMRAKQLLVAWQDQEGVHATPENLINALNKSGLSDLAESLTNDNETNS

• Structural information:
  • Protein Domains: (570..65-)
    (/note="Death-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00064"-)
  • Interpro: IPR011029  IPR000488  IPR021861  
  • Prosite: PS50017
  • PDB: 1WXP
  • PDBsum: 1WXP
  • STRING: ENSP00000261600
• Other Databases: GeneCards:  THOC1  Malacards:  THOC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000347	THO complex	IBA	cellular component
GO:0000445	THO complex part of transcription export complex	IBA	cellular component
GO:0032784	regulation of DNA-templated transcription, elongation	IBA	biological process
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0046784	viral mRNA export from host cell nucleus	IDA	biological process
GO:0000445	THO complex part of transcription export complex	IDA	cellular component
GO:0000347	THO complex	IDA	cellular component
GO:0006915	apoptotic process	IDA	biological process
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:2000002	negative regulation of DNA damage checkpoint	IMP	biological process
GO:0048297	negative regulation of isotype switching to IgA isotypes	ISS	biological process
GO:0032786	positive regulation of DNA-templated transcription, elongation	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0000018	regulation of DNA recombination	IMP	biological process
GO:0006406	mRNA export from nucleus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006396	RNA processing	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048297	negative regulation of isotype switching to IgA isotypes	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0032784	regulation of DNA-templated transcription, elongation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray