LOCUS       NM_025077               1887 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens target of EGR1, exonuclease (TOE1), mRNA.
ACCESSION   NM_025077
VERSION     NM_025077.4
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 1887)
  AUTHORS   Guo,H., Deng,Z., Xu,Q., Wang,Z., Zeng,X., Hong,X., Wang,Q., Sun,Y.
            and Yuan,H.
  TITLE     Genetic and prenatal diagnosis of a Chinese pedigree with
            pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7
  JOURNAL   J Matern Fetal Neonatal Med 36 (2), 2250895 (2023)
   PUBMED   37635087
  REMARK    GeneRIF: Genetic and prenatal diagnosis of a Chinese pedigree with
            pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7.
REFERENCE   2  (bases 1 to 1887)
  AUTHORS   Wang,C., Ge,Y., Li,R., He,G. and Lin,Y.
  TITLE     Novel compound heterozygous missense variants in TOE1 gene
            associated with pontocerebellar hypoplasia type 7
  JOURNAL   Gene 862, 147250 (2023)
   PUBMED   36738896
  REMARK    GeneRIF: Novel compound heterozygous missense variants in TOE1 gene
            associated with pontocerebellar hypoplasia type 7.
REFERENCE   3  (bases 1 to 1887)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1887)
  AUTHORS   Deng,T., Huang,Y., Weng,K., Lin,S., Li,Y., Shi,G., Chen,Y.,
            Huang,J., Liu,D., Ma,W. and Songyang,Z.
  TITLE     TOE1 acts as a 3' exonuclease for telomerase RNA and regulates
            telomere maintenance
  JOURNAL   Nucleic Acids Res 47 (1), 391-405 (2019)
   PUBMED   30371886
  REMARK    GeneRIF: Our study highlights a mechanistic link between TOE1
            mutation, improper hTR processing and telomere dysfunction in
            diseases such as Pontocerebella Hypoplasia Type 7 .
REFERENCE   5  (bases 1 to 1887)
  AUTHORS   Son,A., Park,J.E. and Kim,V.N.
  TITLE     PARN and TOE1 Constitute a 3' End Maturation Module for Nuclear
            Non-coding RNAs
  JOURNAL   Cell Rep 23 (3), 888-898 (2018)
   PUBMED   29669292
  REMARK    GeneRIF: PARN and TOE1 do not modulate the length of mRNA poly(A)
            tails. Rather, they promote the maturation of nuclear small
            non-coding RNAs (ncRNAs). PARN and TOE1 act redundantly on some
            ncRNAs, most prominently small Cajal body-specific RNAs (scaRNAs).
REFERENCE   6  (bases 1 to 1887)
  AUTHORS   Sperandio,S., Tardito,S., Surzycki,A., Latterich,M. and de Belle,I.
  TITLE     TOE1 interacts with p53 to modulate its transactivation potential
  JOURNAL   FEBS Lett 583 (13), 2165-2170 (2009)
   PUBMED   19508870
REFERENCE   7  (bases 1 to 1887)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (bases 1 to 1887)
  AUTHORS   Wagner,E., Clement,S.L. and Lykke-Andersen,J.
  TITLE     An unconventional human Ccr4-Caf1 deadenylase complex in nuclear
            cajal bodies
  JOURNAL   Mol Cell Biol 27 (5), 1686-1695 (2007)
   PUBMED   17178830
REFERENCE   9  (bases 1 to 1887)
  AUTHORS   De Belle,I., Wu,J.X., Sperandio,S., Mercola,D. and Adamson,E.D.
  TITLE     In vivo cloning and characterization of a new growth suppressor
            protein TOE1 as a direct target gene of Egr1
  JOURNAL   J Biol Chem 278 (16), 14306-14312 (2003)
   PUBMED   12562764
  REMARK    GeneRIF: TOE1 has a role in the growth inhibitory activity of Egr1
REFERENCE   10 (bases 1 to 1887)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA887065.1, AY169960.1 and BC009364.2.
            
            On Nov 22, 2018 this sequence version replaced NM_025077.3.
            
            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 :: SRR1163657.196342.1,
                                           SRR5189658.136993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372090.6/ ENSP00000361162.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-146               DA887065.1         427-572
            147-1386            AY169960.1         644-1883
            1387-1887           BC009364.2         1321-1821
FEATURES             Location/Qualifiers
     source          1..1887
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1887
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /note="target of EGR1, exonuclease"
                     /db_xref="GeneID:114034"
                     /db_xref="HGNC:HGNC:15954"
                     /db_xref="MIM:613931"
     exon            1..135
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1616
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /note="target of EGR1, member 1 (nuclear)"
                     /codon_start=1
                     /product="target of EGR1 protein 1"
                     /protein_id="NP_079353.3"
                     /db_xref="CCDS:CCDS521.1"
                     /db_xref="GeneID:114034"
                     /db_xref="HGNC:HGNC:15954"
                     /db_xref="MIM:613931"
                     /translation="MAADSDDGAVSAPAASDGGVSKSTTSGEELVVQVPVVDVQSNNF
                     KEMWPSLLLAIKTANFVAVDTELSGLGDRKSLLNQCIEERYKAVCHAARTRSILSLGL
                     ACFKRQPDKGEHSYLAQVFNLTLLCMEEYVIEPKSVQFLIQHGFNFNQQYAQGIPYHK
                     GNDKGDESQSQSVRTLFLELIRARRPLVLHNGLIDLVFLYQNFYAHLPESLGTFTADL
                     CEMFPAGIYDTKYAAEFHARFVASYLEYAFRKCERENGKQRAAGSPHLTLEFCNYPSS
                     MRDHIDYRCCLPPATHRPHPTSICDNFSAYGWCPLGPQCPQSHDIDLIIDTDEAAAED
                     KRRRRRRREKRKRALLNLPGTQTSGEAKDGPPKKQVCGDSIKPEETEQEVAADETRNL
                     PHSKQGNKNDLEMGIKAARPEIADRATSEVPGSQASPNPVPGDGLHRAGFDAFMTGYV
                     MAYVEVSQGPQPCSSGPWLPECHNKVYLSGKAVPLTVAKSQFSRSSKAHNQKMKLTWG
                     SS"
     exon            136..278
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            279..319
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            320..416
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..575
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            576..835
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            836..995
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1887
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1887
                     /gene="TOE1"
                     /gene_synonym="hCaf1z; PCH7; TOE-1"
                     /note="major polyA site"
ORIGIN      
        1 ccccgactgc ctgaaccgcg ccaggagacg gaccgcaagt ccagcgtacc cacagacgac
       61 tcaggcggga gacgagcggt gtcatggccg ccgacagtga cgatggcgca gtttcagctc
      121 ccgcagcttc cgacggtggt gtcagcaaaa gcacaacatc tggggaggag ctagtagtcc
      181 aggttcccgt agtggatgtg caaagcaaca acttcaagga gatgtggcca tccctcctgc
      241 tagccataaa gacagctaat ttcgtggctg tggacacgga gctgagtggg cttggggaca
      301 ggaagagttt gctgaaccag tgcattgagg aacgttacaa ggccgtgtgt catgctgcca
      361 ggacccgttc tatcctttcc ctgggcctcg cctgcttcaa gcggcagcca gacaagggtg
      421 aacattccta tctggctcaa gtgttcaatc tcactctgct gtgcatggag gagtatgtca
      481 tagaaccaaa gtctgtgcag ttcctgatac agcatggctt caacttcaac cagcagtatg
      541 cccaaggcat cccctaccat aagggcaatg acaagggtga tgagagccag agccagtcag
      601 tacggaccct attcctggag ctaatccgag cccgccggcc cctggtgcta cacaatggcc
      661 ttatagactt ggtgttcctg taccagaact tctatgcaca cctccctgag agtctgggaa
      721 ccttcaccgc tgacctgtgt gagatgttcc cagcaggcat ttatgacacc aaatatgctg
      781 ctgagtttca tgcccgtttc gtggcctcct acttagaata tgccttccgg aaatgtgaac
      841 gggaaaatgg gaagcagcgg gcagctggca gcccacacct taccctggag ttctgcaact
      901 atccttccag catgagggac catattgatt accgctgctg cctgccccca gcaacccacc
      961 gtcctcatcc caccagcatc tgtgacaact tctcggctta tggctggtgc cccctgggac
     1021 cacagtgtcc tcagtctcac gatattgacc ttatcattga cactgatgag gctgcggcag
     1081 aggacaagcg gcgacggcga cgacgtaggg aaaaacggaa gagggcttta ttgaacctac
     1141 cggggacaca gacctctggg gaagctaagg atggtcctcc caagaagcag gtctgtgggg
     1201 atagcatcaa gcctgaagaa accgagcagg aggtggctgc cgatgaaact aggaacctgc
     1261 ctcactccaa gcaaggcaac aaaaatgact tagagatggg gattaaggca gcaaggcctg
     1321 aaatagctga tagagctacc tcagaagtgc cagggagcca agccagtcct aacccagtgc
     1381 ctggggatgg attgcaccgg gctggttttg atgcctttat gacaggttat gtgatggcct
     1441 atgtggaagt gagccaggga ccgcagccct gcagctctgg accctggctc cctgaatgcc
     1501 acaataaggt atatttgagt ggcaaagctg tacccctcac agtggccaag agccagttct
     1561 ctcgttcctc caaagcccac aatcagaaga tgaagctcac ttggggcagt agctgatgca
     1621 acttccacct tgctctcagg tggaacagag gtattttggg tctctctagc ctgaaatgtc
     1681 atcctcaact gctactgagt ttaggggagg gggaatgtct tgacagacat cactgcattg
     1741 ccctggaccg cctcctttat cccagtgttt gaggtacaag taagaaggct gaccagcacc
     1801 tgtaacactg actttatttt taagtctgaa aatgtcttgg gaaagtttta caaaaaaaaa
     1861 aatcaacaga agcaagttat gaaaata
//
