We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p21.31
Chromosome location (bp)
48465811 - 48467645
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini 1,2,3. Prevents cell-intrinsic initiation of autoimmunity 4,5,6. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements 7,8,9. 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 10. Micronuclear DNA degradation is required to limit CGAS activation and subsequent inflammation 11. 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 12. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates 13. Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light 14. During GZMA-mediated cell death, contributes to DNA damage in concert with NME1 15. 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 16....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Exonuclease, Hydrolase, Nuclease
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from 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 encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune diseases Other immune system diseases Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000077[DNA damage checkpoint signaling] GO:0000287[magnesium ion binding] GO:0000738[DNA catabolic process, exonucleolytic] GO:0001568[blood vessel development] GO:0001822[kidney development] GO:0002250[adaptive immune response] GO:0002251[organ or tissue specific immune response] GO:0002253[activation of immune response] GO:0002281[macrophage activation involved in immune response] GO:0002320[lymphoid progenitor cell differentiation] GO:0002383[immune response in brain or nervous system] GO:0002437[inflammatory response to antigenic stimulus] GO:0002457[T cell antigen processing and presentation] GO:0002637[regulation of immunoglobulin production] GO:0003007[heart morphogenesis] GO:0003015[heart process] GO:0003228[atrial cardiac muscle tissue development] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0004518[nuclease activity] GO:0004527[exonuclease activity] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006091[generation of precursor metabolites and energy] GO:0006110[regulation of glycolytic process] GO:0006259[DNA metabolic process] GO:0006260[DNA replication] GO:0006281[DNA repair] GO:0006298[mismatch repair] GO:0006304[DNA modification] GO:0006308[DNA catabolic process] GO:0006310[DNA recombination] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0006974[cellular response to DNA damage stimulus] GO:0008250[oligosaccharyltransferase complex] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008301[DNA binding, bending] GO:0008340[determination of adult lifespan] GO:0008408[3'-5' exonuclease activity] GO:0008853[exodeoxyribonuclease III activity] GO:0009411[response to UV] GO:0010468[regulation of gene expression] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019217[regulation of fatty acid metabolic process] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032197[transposition, RNA-mediated] GO:0032405[MutLalpha complex binding] GO:0032407[MutSalpha complex binding] GO:0032479[regulation of type I interferon production] GO:0032508[DNA duplex unwinding] GO:0032558[adenyl deoxyribonucleotide binding] GO:0032680[regulation of tumor necrosis factor production] GO:0032993[protein-DNA complex] GO:0034599[cellular response to oxidative stress] GO:0034614[cellular response to reactive oxygen species] GO:0034644[cellular response to UV] GO:0035458[cellular response to interferon-beta] GO:0035781[CD86 biosynthetic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043277[apoptotic cell clearance] GO:0043457[regulation of cellular respiration] GO:0043596[nuclear replication fork] GO:0045087[innate immune response] GO:0045088[regulation of innate immune response] GO:0045184[establishment of protein localization] GO:0045824[negative regulation of innate immune response] GO:0046872[metal ion binding] GO:0046890[regulation of lipid biosynthetic process] GO:0050699[WW domain binding] GO:0050727[regulation of inflammatory response] GO:0050790[regulation of catalytic activity] GO:0050821[protein stabilization] GO:0050863[regulation of T cell activation] GO:0051607[defense response to virus] GO:0060337[type I interferon signaling pathway] GO:0060339[negative regulation of type I interferon-mediated signaling pathway] GO:0061635[regulation of protein complex stability] GO:0071310[cellular response to organic substance] GO:0071357[cellular response to type I interferon] GO:0071480[cellular response to gamma radiation] GO:0072711[cellular response to hydroxyurea] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0097281[immune complex formation] GO:1904161[DNA synthesis involved in UV-damage excision repair] GO:1905671[regulation of lysosome organization]
The Human Protein Atlas project is funded
