• Gene id: 11277

Gene Summary

• Gene Symbol: TREX1   Gene   UCSC   Ensembl
• Aliases: AGS1, CRV, DRN3, HERNS
• Gene name: three prime repair exonuclease 1
• Alternate names: three-prime repair exonuclease 1, 3' repair exonuclease 1, 3'-5' exonuclease TREX1, DNase III, deoxyribonuclease III,
• Gene location: 3p21.31 (48465829: 48467644)     Exons: 3     NC_000003.12
• Gene summary(Entrez): This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree
• OMIM: 617505

Protein Summary

• Protein general information: Q9NSU2  
  • Name: Three prime repair exonuclease 1 (EC 3.1.11.2) (3' 5' exonuclease TREX1) (Deoxyribonuclease III) (DNase III)
  • Length: 314  
  • Mass: 33212
  • Tissue specificity: Detected in thymus, spleen, liver, brain, heart, small intestine and colon. {ECO
• Sequence:

  MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGK
  ACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGA
  FCVDSITALKALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARP
  FGTIRPMYGVTASARTKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLA
  VATLYGLSLATPGE

• Structural information:
  • Interpro: IPR013520  IPR012337  IPR036397  
  • STRING: ENSP00000296443
• Other Databases: GeneCards:  TREX1  Malacards:  TREX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008296	3'-5'-exodeoxyribonuclease activity	IBA	molecular function
GO:0008296	3'-5'-exodeoxyribonuclease activity	ISS	molecular function
GO:0006259	DNA metabolic process	ISS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008296	3'-5'-exodeoxyribonuclease activity	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0008853	exodeoxyribonuclease III activity	IEA	molecular function
GO:0032405	MutLalpha complex binding	IDA	molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0032479	regulation of type I interferon production	TAS	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0002251	organ or tissue specific immune response	IEA	biological process
GO:0002379	immunoglobulin biosynthetic process involved in immune response	IEA	biological process
GO:0002383	immune response in brain or nervous system	IEA	biological process
GO:0002437	inflammatory response to antigenic stimulus	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006091	generation of precursor metabolites and energy	IEA	biological process
GO:0006110	regulation of glycolytic process	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0008250	oligosaccharyltransferase complex	IEA	cellular component
GO:0008296	3'-5'-exodeoxyribonuclease activity	IEA	molecular function
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0019217	regulation of fatty acid metabolic process	IEA	biological process
GO:0032197	transposition, RNA-mediated	IEA	biological process
GO:0032479	regulation of type I interferon production	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032558	adenyl deoxyribonucleotide binding	IEA	molecular function
GO:0032680	regulation of tumor necrosis factor production	IEA	biological process
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0035781	CD86 biosynthetic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043596	nuclear replication fork	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0050699	WW domain binding	IEA	molecular function
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0050863	regulation of T cell activation	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0060337	type I interferon signaling pathway	IEA	biological process
GO:0061635	regulation of protein complex stability	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0071357	cellular response to type I interferon	IEA	biological process
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0072421	detection of DNA damage stimulus involved in DNA damage checkpoint	IEA	biological process
GO:0097281	immune complex formation	IEA	biological process
GO:1904161	DNA synthesis involved in UV-damage excision repair	IEA	biological process
GO:1905671	regulation of lysosome organization	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0002253	activation of immune response	IEA	biological process
GO:0002281	macrophage activation involved in immune response	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002457	T cell antigen processing and presentation	IEA	biological process
GO:0002637	regulation of immunoglobulin production	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003015	heart process	IEA	biological process
GO:0003228	atrial cardiac muscle tissue development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006259	DNA metabolic process	IEA	biological process
GO:0006304	DNA modification	IEA	biological process
GO:0006308	DNA catabolic process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008301	DNA binding, bending	IEA	molecular function
GO:0008408	3'-5' exonuclease activity	IEA	molecular function
GO:0009411	response to UV	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0031323	regulation of cellular metabolic process	IEA	biological process
GO:0032607	interferon-alpha production	IEA	biological process
GO:0034644	cellular response to UV	IEA	biological process
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043277	apoptotic cell clearance	IEA	biological process
GO:0043457	regulation of cellular respiration	IEA	biological process
GO:0045088	regulation of innate immune response	IEA	biological process
GO:0045184	establishment of protein localization	IEA	biological process
GO:0046890	regulation of lipid biosynthetic process	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IEA	biological process
GO:0072394	detection of stimulus involved in cell cycle checkpoint	IEA	biological process
GO:0072422	signal transduction involved in DNA damage checkpoint	IEA	biological process
GO:0072711	cellular response to hydroxyurea	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IDA	molecular function
GO:0006310	DNA recombination	NAS	biological process
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0006298	mismatch repair	NAS	biological process
GO:0005635	nuclear envelope	NAS	cellular component
GO:0046872	metal ion binding	NAS	molecular function
GO:0006260	DNA replication	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04623	Cytosolic DNA-sensing pathway

Diseases

Associated diseases	References
Aicardi-Goutieres syndrome	KEGG:H00290
Familial chilblain lupus	KEGG:H00291
Retinal vasculopathy with cerebral leukodystrophy	KEGG:H01000
Aicardi-Goutieres syndrome	KEGG:H00290
Familial chilblain lupus	KEGG:H00291
Retinal vasculopathy with cerebral leukodystrophy	KEGG:H01000
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray