LOCUS       NM_033629               1096 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens three prime repair exonuclease 1 (TREX1), transcript
            variant 4, mRNA.
ACCESSION   NM_033629
VERSION     NM_033629.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1096)
  AUTHORS   Techer,H., Gopaul,D., Heuze,J., Bouzalmad,N., Leray,B., Vernet,A.,
            Mettling,C., Moreaux,J., Pasero,P. and Lin,Y.L.
  TITLE     MRE11 and TREX1 control senescence by coordinating replication
            stress and interferon signaling
  JOURNAL   Nat Commun 15 (1), 5423 (2024)
   PUBMED   38926338
  REMARK    GeneRIF: MRE11 and TREX1 control senescence by coordinating
            replication stress and interferon signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1096)
  AUTHORS   Kavanagh,D., Spitzer,D., Kothari,P.H., Shaikh,A., Liszewski,M.K.,
            Richards,A. and Atkinson,J.P.
  TITLE     New roles for the major human 3'-5' exonuclease TREX1 in human
            disease
  JOURNAL   Cell Cycle 7 (12), 1718-1725 (2008)
   PUBMED   18583934
  REMARK    GeneRIF: A review of the putative functions of TREX1 in
            relationship to the clinical, genetic and functional
            characteristics of several diseases caused by mutations in TREX1.
            Review article
REFERENCE   3  (bases 1 to 1096)
  AUTHORS   Crow,Y.J., Hayward,B.E., Parmar,R., Robins,P., Leitch,A., Ali,M.,
            Black,D.N., van Bokhoven,H., Brunner,H.G., Hamel,B.C., Corry,P.C.,
            Cowan,F.M., Frints,S.G., Klepper,J., Livingston,J.H., Lynch,S.A.,
            Massey,R.F., Meritet,J.F., Michaud,J.L., Ponsot,G., Voit,T.,
            Lebon,P., Bonthron,D.T., Jackson,A.P., Barnes,D.E. and Lindahl,T.
  TITLE     Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1
            cause Aicardi-Goutieres syndrome at the AGS1 locus
  JOURNAL   Nat Genet 38 (8), 917-920 (2006)
   PUBMED   16845398
  REMARK    GeneRIF: TREX1, encoding the major mammalian 3' --> 5' DNA
            exonuclease, is the AGS1 gene, and AGS-causing mutations result in
            abrogation of TREX1 enzyme activity.
REFERENCE   4  (bases 1 to 1096)
  AUTHORS   Mazur,D.J. and Perrino,F.W.
  TITLE     Structure and expression of the TREX1 and TREX2 3' --> 5'
            exonuclease genes
  JOURNAL   J Biol Chem 276 (18), 14718-14727 (2001)
   PUBMED   11278605
REFERENCE   5  (bases 1 to 1096)
  AUTHORS   Mazur,D.J. and Perrino,F.W.
  TITLE     Identification and expression of the TREX1 and TREX2 cDNA sequences
            encoding mammalian 3'-->5' exonucleases
  JOURNAL   J Biol Chem 274 (28), 19655-19660 (1999)
   PUBMED   10391904
REFERENCE   6  (bases 1 to 1096)
  AUTHORS   Hoss,M., Robins,P., Naven,T.J., Pappin,D.J., Sgouros,J. and
            Lindahl,T.
  TITLE     A human DNA editing enzyme homologous to the Escherichia coli
            DnaQ/MutD protein
  JOURNAL   EMBO J 18 (13), 3868-3875 (1999)
   PUBMED   10393201
REFERENCE   7  (bases 1 to 1096)
  AUTHORS   de Boer,I., Pelzer,N. and Terwindt,G.
  TITLE     Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic
            Manifestations
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31536185
REFERENCE   8  (bases 1 to 1096)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 1096)
  AUTHORS   Crow,Y.J.
  TITLE     Aicardi-Goutieres Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301648
REFERENCE   10 (bases 1 to 1096)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134772.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033629.5.
            
            Summary: 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].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            in the 5' UTR, lacks a portion of the 5' coding region, and
            initiates translation at a downstream in-frame start codon,
            compared to variant 1. The resulting isoform (b) has a shorter
            N-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.22691.1, BQ927040.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000625293.3/ ENSP00000486676.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-80                AC134772.2         79908-79987
            81-1096             AC134772.2         80308-81323
FEATURES             Location/Qualifiers
     source          1..1096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1096
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /note="three prime repair exonuclease 1"
                     /db_xref="GeneID:11277"
                     /db_xref="HGNC:HGNC:12269"
                     /db_xref="MIM:606609"
     exon            1..80
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /inference="alignment:Splign:2.1.0"
     exon            81..1096
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1051
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /EC_number="3.1.11.2"
                     /note="isoform b is encoded by transcript variant 4; 3'
                     repair exonuclease 1; deoxyribonuclease III; DNase III;
                     3'-5' exonuclease TREX1"
                     /codon_start=1
                     /product="three-prime repair exonuclease 1 isoform b"
                     /protein_id="NP_338599.1"
                     /db_xref="CCDS:CCDS2769.1"
                     /db_xref="GeneID:11277"
                     /db_xref="HGNC:HGNC:12269"
                     /db_xref="MIM:606609"
                     /translation="MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCAL
                     ESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTAVLAAHGRQCFDD
                     NLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALK
                     ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRW
                     VDAHARPFGTIRPMYGVTASARTKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPV
                     KDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE"
     regulatory      1073..1078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /note="hexamer: AATAAA"
     polyA_site      1096
                     /gene="TREX1"
                     /gene_synonym="AGS1; CRV; DRN3; HERNS; RVCLS"
                     /note="major polyA site"
ORIGIN      
        1 acttcccgcc actgctgcca gcgagagccg cgggagagtg tgcagccgag tcactactgc
       61 ctgcctgcct gcctgctacg gctcagcagc aggtacgtac ccaaccatgg gctcgcaggc
      121 cctgcccccg gggcccatgc agaccctcat ctttttcgac atggaggcca ctggcttgcc
      181 cttctcccag cccaaggtca cggagctgtg cctgctggct gtccacagat gtgccctgga
      241 gagccccccc acctctcagg ggccacctcc cacagttcct ccaccaccgc gtgtggtaga
      301 caagctctcc ctgtgtgtgg ctccggggaa ggcctgcagc cctgcagcca gcgagatcac
      361 aggtctgagc acagctgtgc tggcagcgca tgggcgtcaa tgttttgatg acaacctggc
      421 caacctgctc ctagccttcc tgcggcgcca gccacagccc tggtgcctgg tggcacacaa
      481 tggtgaccgc tacgacttcc ccctgctcca agcagagctg gctatgctgg gcctcaccag
      541 tgctctggat ggtgccttct gtgtggatag catcactgcg ctgaaggccc tggagcgagc
      601 aagcagcccc tcagaacacg gcccaaggaa gagctatagc ctaggcagca tctacactcg
      661 cctgtatggg cagtcccctc cagactcgca cacggctgag ggtgatgtcc tggccctgct
      721 cagcatctgt cagtggagac cacaggccct gctgcggtgg gtggatgctc acgccaggcc
      781 tttcggcacc atcaggccca tgtatggggt cacagcctct gctaggacca agccaagacc
      841 atctgctgtc acaaccactg cacacctggc cacaaccagg aacactagtc ccagccttgg
      901 agagagcagg ggtaccaagg atcttcctcc agtgaaggac cctggagccc tatccaggga
      961 ggggctgctg gccccactgg gtctgctggc catcctgacc ttggcagtag ccacactgta
     1021 tggactatcc ctggccacac ctggggagta ggccaagaag gaaaatctga cgaataaaga
     1081 cccccgctgc cccata
//
