Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

TREX1

protein_coding 3 48,465,811 - 48,467,645 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000213689

Gene type
protein_coding

Chromosome
3

Coordinates
48,465,811 - 48,467,645

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

11277 AGS1 Aicardi-Goutieres syndrome 1 CCDS2769 CCDS59451 DRN3 ENST00000625293.3 NM_033629 NM_033629.6 Q9NSU2

Summary

GENCODE gene_type=protein_coding; HGNC symbol=TREX1; HGNC name=three prime repair exonuclease 1; alias_count=10; RefSeq=NM_033629; UniProt=Q9NSU2; MANE Select=ENST00000625293.3,NM_033629.6

Source: GENCODE + HGNC complete set

11277 • protein-coding

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 encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

NCBI Gene

UniProt

Q9NSU2 • reviewed

Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity (PubMed:10391904, PubMed:10393201, PubMed:17293595). Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements (PubMed:10391904, PubMed:10393201, PubMed:17293595). Plays a key role in degradation of DNA fragments at cytosolic micronuclei arising from genome instability: its association with the endoplasmic reticulum membrane directs TREX1 to ruptured micronuclei, leading to micronuclear DNA degradation (PubMed:33476576). Micronuclear DNA degradation is required to limit CGAS activation and subsequent inflammation (PubMed:33476576). Unless degraded, these DNA fragments accumulate in the cytosol and activate the cGAS-STING innate immune signaling, leading to the production of type I interferon (PubMed:33476576). Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates (PubMed:18045533). Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light (PubMed:23993650). During GZMA-mediated cell death, contributes to DNA damage in concert with NME1 (PubMed:16818237). NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair (PubMed:16818237)

Three-prime repair exonuclease 1 · Nucleus; Cytoplasm, cytosol; Endoplasmic reticulum membrane · EC 3.1.11.2

Q9NSU2 • reviewed

Three-prime repair exonuclease 1 · Nucleus; Cytoplasm, cytosol; Endoplasmic reticulum membrane · EC 3.1.11.2

GO annotations

Biological process

GO:0006308 DNA catabolic process (IBA)
GO:0006259 DNA metabolic process (ISS)
GO:0006259 DNA metabolic process (IEA)
GO:0006310 DNA recombination (NAS)
GO:0006281 DNA repair (IEA)
GO:0006281 DNA repair (TAS)
GO:0006260 DNA replication (NAS)
GO:0006284 base-excision repair (NAS)
GO:0008626 granzyme-mediated apoptotic signaling pathway (NAS)
GO:0006298 mismatch repair (NAS)

+ 2 more

Cellular component

GO:0000785 chromatin (NAS)
GO:0005737 cytoplasm (IEA)
GO:0005737 cytoplasm (IBA)
GO:0005829 cytosol (IEA)
GO:0005829 cytosol (IDA)
GO:0005829 cytosol (IEA)
GO:0005783 endoplasmic reticulum (IEA)
GO:0005783 endoplasmic reticulum (NAS)
GO:0005789 endoplasmic reticulum membrane (IEA)
GO:0005789 endoplasmic reticulum membrane (IDA)

+ 9 more

Molecular function

GO:0008408 3'-5' exonuclease activity (IEA)
GO:0008408 3'-5' exonuclease activity (IEA)
GO:0008408 3'-5' exonuclease activity (IDA)
GO:0008296 3'-5'-DNA exonuclease activity (ISS)
GO:0008296 3'-5'-DNA exonuclease activity (IEA)
GO:0008296 3'-5'-DNA exonuclease activity (IEA)
GO:0008296 3'-5'-DNA exonuclease activity (TAS)
GO:0008296 3'-5'-DNA exonuclease activity (IDA)
GO:0008296 3'-5'-DNA exonuclease activity (IDA)
GO:0008296 3'-5'-DNA exonuclease activity (IBA)

+ 54 more

Representative

Representative transcript
ENST00000444177

Representative protein
ENSP00000415972.1

Representative type
CCDS

Candidate count
6

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000433541	TREX1-201	protein_coding	not available	ENSP00000412404.1	3:48,465,811 - 48,467,645 +
ENST00000444177	TREX1-202	protein_coding	not available	ENSP00000415972.1	3:48,465,946 - 48,467,643 +
ENST00000625293	TREX1-205	protein_coding	not available	ENSP00000486676.2	3:48,466,230 - 48,467,645 +
ENST00000492235	TREX1-204	protein_coding	not available	ENSP00000494511.1	3:48,466,252 - 48,467,643 +
ENST00000635452	TREX1-206	protein_coding	not available	ENSP00000492023.2	3:48,466,257 - 48,467,645 +
ENST00000456089	TREX1-203	protein_coding	not available	ENSP00000411331.1	3:48,466,262 - 48,467,645 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.