LOCUS       NM_002528               1030 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens nth like DNA glycosylase 1 (NTHL1), transcript variant
            1, mRNA.
ACCESSION   NM_002528
VERSION     NM_002528.7
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 1030)
  AUTHORS   Diamantopoulos,M.A., Adamopoulos,P.G., Tsiakanikas,P.,
            Nisotakis,T., Skourou,P.C. and Scorilas,A.
  TITLE     Unraveling novel mRNA transcripts of the human DNA N-glycosylase 1
            (NTHL1) gene with the implementation of an innovative targeted
            DNA-seq assay
  JOURNAL   Gene 930, 148856 (2024)
   PUBMED   39147115
REFERENCE   2  (bases 1 to 1030)
  AUTHORS   Odstrcil,R.E., Dutta,P. and Liu,J.
  TITLE     Enhanced Sampling for Conformational Changes and Molecular
            Mechanisms of Human NTHL1
  JOURNAL   J Phys Chem Lett 15 (11), 3206-3213 (2024)
   PUBMED   38483510
  REMARK    GeneRIF: Enhanced Sampling for Conformational Changes and Molecular
            Mechanisms of Human NTHL1.
REFERENCE   3  (bases 1 to 1030)
  AUTHORS   Nurmi,A.K., Pelttari,L.M., Kiiski,J.I., Khan,S., Nurmikolu,M.,
            Suvanto,M., Aho,N., Tasmuth,T., Kalso,E., Schleutker,J.,
            Kallioniemi,A., Heikkila,P., Aittomaki,K., Blomqvist,C. and
            Nevanlinna,H.
  CONSRTM   FinnGen
  TITLE     NTHL1 is a recessive cancer susceptibility gene
  JOURNAL   Sci Rep 13 (1), 21127 (2023)
   PUBMED   38036545
  REMARK    GeneRIF: NTHL1 is a recessive cancer susceptibility gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1030)
  AUTHORS   Meguro,S., Koguchi,T., Hakozaki,Y., Onagi,A., Matsuoka,K.,
            Hoshi,S., Hata,J., Sato,Y., Akaihata,H., Kataoka,M., Ogawa,S. and
            Kojima,Y.
  TITLE     Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1
            Leading to Kidney Diseases and Multiple Diverse Renal Cancers
  JOURNAL   Cancer Genomics Proteomics 20 (1), 40-50 (2023)
   PUBMED   36581342
  REMARK    GeneRIF: Concurrent Reduced Expression of Contiguous PKD1, TSC2 and
            NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal
            Cancers.
REFERENCE   5  (bases 1 to 1030)
  AUTHORS   Moe,E., Silveira,C.M., Zuccarello,L., Rollo,F., Stelter,M., De
            Bonis,S., Kulka-Peschke,C., Katz,S., Hildebrandt,P., Zebger,I.,
            Timmins,J. and Todorovic,S.
  TITLE     Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and
            the N-terminal domain
  JOURNAL   Chem Commun (Camb) 58 (90), 12568-12571 (2022)
   PUBMED   36279116
  REMARK    GeneRIF: Human endonuclease III/NTH1: focusing on the [4Fe-4S]
            cluster and the N-terminal domain.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1030)
  AUTHORS   Ikeda,S., Biswas,T., Roy,R., Izumi,T., Boldogh,I., Kurosky,A.,
            Sarker,A.H., Seki,S. and Mitra,S.
  TITLE     Purification and characterization of human NTH1, a homolog of
            Escherichia coli endonuclease III. Direct identification of Lys-212
            as the active nucleophilic residue
  JOURNAL   J Biol Chem 273 (34), 21585-21593 (1998)
   PUBMED   9705289
REFERENCE   7  (bases 1 to 1030)
  AUTHORS   Hilbert,T.P., Chaung,W., Boorstein,R.J., Cunningham,R.P. and
            Teebor,G.W.
  TITLE     Cloning and expression of the cDNA encoding the human homologue of
            the DNA repair enzyme, Escherichia coli endonuclease III
  JOURNAL   J Biol Chem 272 (10), 6733-6740 (1997)
   PUBMED   9045706
REFERENCE   8  (bases 1 to 1030)
  AUTHORS   Aspinwall,R., Rothwell,D.G., Roldan-Arjona,T., Anselmino,C.,
            Ward,C.J., Cheadle,J.P., Sampson,J.R., Lindahl,T., Harris,P.C. and
            Hickson,I.D.
  TITLE     Cloning and characterization of a functional human homolog of
            Escherichia coli endonuclease III
  JOURNAL   Proc Natl Acad Sci U S A 94 (1), 109-114 (1997)
   PUBMED   8990169
REFERENCE   9  (bases 1 to 1030)
  AUTHORS   Hilbert,T.P., Boorstein,R.J., Kung,H.C., Bolton,P.H., Xing,D.,
            Cunningham,R.P. and Teebor,G.W.
  TITLE     Purification of a mammalian homologue of Escherichia coli
            endonuclease III: identification of a bovine pyrimidine
            hydrate-thymine glycol DNAse/AP lyase by irreversible cross linking
            to a thymine glycol-containing oligoxynucleotide
  JOURNAL   Biochemistry 35 (8), 2505-2511 (1996)
   PUBMED   8611553
REFERENCE   10 (bases 1 to 1030)
  AUTHORS   Kuiper,R.P., Nielsen,M., De Voer,R.M. and Hoogerbrugge,N.
  TITLE     NTHL1 Tumor Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32239880
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U79718.1 and U81285.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 15, 2018 this sequence version replaced NM_002528.6.
            
            Summary: The protein encoded by this gene is a DNA N-glycosylase of
            the endonuclease III family. Like a similar protein in E. coli, the
            encoded protein has DNA glycosylase activity on DNA substrates
            containing oxidized pyrimidine residues and has
            apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct
            2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: U81285.1, Y09687.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651570.2/ ENSP00000498421.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 U79718.1           33-35
            4-1030              U81285.1           1-1027
FEATURES             Location/Qualifiers
     source          1..1030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1030
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /note="nth like DNA glycosylase 1"
                     /db_xref="GeneID:4913"
                     /db_xref="HGNC:HGNC:8028"
                     /db_xref="MIM:602656"
     exon            1..126
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..926
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /EC_number="4.2.99.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     endonuclease III-like protein 1; DNA glycoslyase/AP lyase;
                     bifunctional DNA N-glycoslyase/DNA-(apurinic or
                     apyrimidinic site) lyase; nth endonuclease III-like 1; DNA
                     glycosylase/AP lyase; bifunctional DNA
                     N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase"
                     /codon_start=1
                     /product="endonuclease III-like protein 1 isoform 1"
                     /protein_id="NP_002519.2"
                     /db_xref="CCDS:CCDS10457.2"
                     /db_xref="GeneID:4913"
                     /db_xref="HGNC:HGNC:8028"
                     /db_xref="MIM:602656"
                     /translation="MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSH
                     SPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNKKDAPV
                     DHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
                     DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAM
                     AVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVG
                     FGQQTCLPVHPRCHACLNQALCPAAQGL"
     exon            127..365
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     exon            366..536
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     exon            537..696
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     exon            697..802
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     exon            803..1030
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1008..1013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /note="hexamer: AATAAA"
     polyA_site      1030
                     /gene="NTHL1"
                     /gene_synonym="FAP3; hNTH1; NTH1; OCTS3"
                     /note="major polyA site"
ORIGIN      
        1 aggagtccgg catgaccgcc ttgagcgcga ggatgctgac ccggagccgg agcctgggac
       61 ccggggctgg gccgcggggg tgtagggagg agcccgggcc tctccggaga agagaggctg
      121 cagcagaagc gaggaaaagc cacagccccg tgaagcgtcc gcggaaagca cagagactgc
      181 gtgtggccta tgagggctcg gacagtgaga aaggtgaggg ggctgagccc ctcaaggtgc
      241 cagtctggga gccccaggac tggcagcaac agctggtcaa catccgtgcc atgaggaaca
      301 aaaaggatgc acctgtggac catctgggga ctgagcactg ctatgactcc agtgcccccc
      361 caaaggtacg caggtaccag gtgctgctgt cactgatgct ctccagccaa accaaagacc
      421 aggtgacggc gggcgccatg cagcgactgc gggcgcgggg cctgacggtg gacagcatcc
      481 tgcagacaga tgatgccacg ctgggcaagc tcatctaccc cgtcggtttc tggaggagca
      541 aggtgaaata catcaagcag accagcgcca tcctgcagca gcactacggt ggggacatcc
      601 cagcctctgt ggccgagctg gtggcgctgc cgggtgttgg gcccaagatg gcacacctgg
      661 ctatggctgt ggcctggggc actgtgtcag gcattgcagt ggacacgcat gtgcacagaa
      721 tcgccaacag gctgaggtgg accaagaagg caaccaagtc cccagaggag acccgcgccg
      781 ccctggagga gtggctgcct agggagctgt ggcacgagat caatggactc ttggtgggct
      841 tcggccagca gacctgtctg cctgtgcacc ctcgctgcca cgcctgcctc aaccaagccc
      901 tctgcccggc cgcccagggt ctctgatggc cgcatggctc tggccgaggt gccgctgtgg
      961 ccaccgtctg tgaagtggct ttacgcttca ggaagccacg cctgttgaat aaagctttgg
     1021 tgtgtttgca
//
