LOCUS       NM_001048174            1708 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens mutY DNA glycosylase (MUTYH), transcript variant
            beta3, mRNA.
ACCESSION   NM_001048174
VERSION     NM_001048174.2
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 1708)
  AUTHORS   Negro,S., Bao,Q.R., Scarpa,M., Scognamiglio,F., Pucciarelli,S.,
            Remo,A., Agostini,M., D'Angelo,E., Mammi,I., Schiavi,F., Rossi,S.,
            Zingone,F., Ferrara,F., Fantin,A., Cristofori,C., Guido,E.,
            Rizzotto,E.R., Intini,R., Bergamo,F., Fassan,M., Salviati,L. and
            Urso,E.D.L.
  TITLE     Multiple colorectal adenomas syndrome: The role of MUTYH mutation
            and the polyps' number in clinical management and colorectal cancer
            risk
  JOURNAL   Dig Liver Dis 56 (6), 1087-1094 (2024)
   PUBMED   38071180
  REMARK    GeneRIF: Multiple colorectal adenomas syndrome: The role of MUTYH
            mutation and the polyps' number in clinical management and
            colorectal cancer risk.
REFERENCE   2  (bases 1 to 1708)
  AUTHORS   Lintas,C., Canalis,B., Azzara,A., Sabarese,G., Perrone,G. and
            Gurrieri,F.
  TITLE     Exploring the Role of the MUTYH Gene in Breast, Ovarian and
            Endometrial Cancer
  JOURNAL   Genes (Basel) 15 (5), 554 (2024)
   PUBMED   38790183
  REMARK    GeneRIF: Exploring the Role of the MUTYH Gene in Breast, Ovarian
            and Endometrial Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1708)
  AUTHORS   Paller,C.J., Tukachinsky,H., Maertens,A., Decker,B., Sampson,J.R.,
            Cheadle,J.P. and Antonarakis,E.S.
  TITLE     Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic
            Inactivation and Defective Base Excision Repair Across a Spectrum
            of Solid Tumors
  JOURNAL   JCO Precis Oncol 8, e2300251 (2024)
   PUBMED   38394468
  REMARK    GeneRIF: Pan-Cancer Interrogation of MUTYH Variants Reveals
            Biallelic Inactivation and Defective Base Excision Repair Across a
            Spectrum of Solid Tumors.
REFERENCE   4  (bases 1 to 1708)
  AUTHORS   Keske,A., Weisman,P., Ospina-Romero,M., Raut,P., Smith-Simmer,K.,
            Zakas,A.L., Flynn,C. and Xu,J.
  TITLE     Breast cancers in monoallelic MUTYH germline mutation carriers have
            clinicopathological features overlapping with those in BRCA1
            germline mutation carriers
  JOURNAL   Breast Cancer Res Treat 204 (1), 151-158 (2024)
   PUBMED   38062336
  REMARK    GeneRIF: Breast cancers in monoallelic MUTYH germline mutation
            carriers have clinicopathological features overlapping with those
            in BRCA1 germline mutation carriers.
REFERENCE   5  (bases 1 to 1708)
  AUTHORS   Yamaguchi,S., Shinmura,K., Saitoh,T., Takenoshita,S., Kuwano,H. and
            Yokota,J.
  TITLE     A single nucleotide polymorphism at the splice donor site of the
            human MYH base excision repair genes results in reduced translation
            efficiency of its transcripts
  JOURNAL   Genes Cells 7 (5), 461-474 (2002)
   PUBMED   12056405
  REMARK    GeneRIF: effect of a single nucleotide polymorphism (SNP) in the
            MYH gene on the difference in the expression levels of its products
REFERENCE   6  (bases 1 to 1708)
  AUTHORS   Slupska,M.M., Baikalov,C., Luther,W.M., Chiang,J.H., Wei,Y.F. and
            Miller,J.H.
  TITLE     Cloning and sequencing a human homolog (hMYH) of the Escherichia
            coli mutY gene whose function is required for the repair of
            oxidative DNA damage
  JOURNAL   J Bacteriol 178 (13), 3885-3892 (1996)
   PUBMED   8682794
REFERENCE   7  (bases 1 to 1708)
  AUTHORS   McGoldrick,J.P., Yeh,Y.C., Solomon,M., Essigmann,J.M. and Lu,A.L.
  TITLE     Characterization of a mammalian homolog of the Escherichia coli
            MutY mismatch repair protein
  JOURNAL   Mol Cell Biol 15 (2), 989-996 (1995)
   PUBMED   7823963
REFERENCE   8  (bases 1 to 1708)
  AUTHORS   Nielsen,M., Infante,E. and Brand,R.
  TITLE     MUTYH Polyposis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23035301
REFERENCE   9  (bases 1 to 1708)
  AUTHORS   Ged,C., Umbenhauer,D.R., Bellew,T.M., Bork,R.W., Srivastava,P.K.,
            Shinriki,N., Lloyd,R.S. and Guengerich,F.P.
  TITLE     Characterization of cDNAs, mRNAs, and proteins related to human
            liver microsomal cytochrome P-450 (S)-mephenytoin 4'-hydroxylase
  JOURNAL   Biochemistry 27 (18), 6929-6940 (1988)
   PUBMED   3196692
REFERENCE   10 (bases 1 to 1708)
  AUTHORS   Umbenhauer,D.R., Martin,M.V., Lloyd,R.S. and Guengerich,F.P.
  TITLE     Cloning and sequence determination of a complementary DNA related
            to human liver microsomal cytochrome P-450 S-mephenytoin
            4-hydroxylase
  JOURNAL   Biochemistry 26 (4), 1094-1099 (1987)
   PUBMED   3032244
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359540.19 and AB032925.1.
            
            On Jan 28, 2020 this sequence version replaced NM_001048174.1.
            
            Summary: This gene encodes a DNA glycosylase involved in oxidative
            DNA damage repair. The enzyme excises adenine bases from the DNA
            backbone at sites where adenine is inappropriately paired with
            guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively
            damaged DNA lesion. The protein is localized to the nucleus and
            mitochondria. This gene product is thought to play a role in
            signaling apoptosis by the introduction of single-strand breaks
            following oxidative damage. Mutations in this gene result in
            heritable predisposition to colorectal cancer, termed
            MUTYH-associated polyposis (MAP). Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2017].
            
            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 :: AB032925.1, SRR18074967.3850992.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10471731, 9611236;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000456914.7/
                                                  ENSP00000407590.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AL359540.19        54043-54077         c
            36-1708             AB032925.1         1-1673
FEATURES             Location/Qualifiers
     source          1..1708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1708
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="mutY DNA glycosylase"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
     exon            1..72
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            73..193
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1644
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /EC_number="3.2.2.31"
                     /note="isoform 2 is encoded by transcript variant beta3;
                     A/G-specific adenine DNA glycosylase; mutY-like protein;
                     mutY homolog"
                     /codon_start=1
                     /product="adenine DNA glycosylase isoform 2"
                     /protein_id="NP_001041639.1"
                     /db_xref="CCDS:CCDS41322.1"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
                     /translation="MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGLARQP
                     EEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAV
                     WVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQE
                     GARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRV
                     RAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVES
                     LCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKA
                     SRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKAL
                     LQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQ
                     EEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSH
                     ISTDAHSLNSAAQ"
     exon            194..342
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            343..382
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            383..456
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            457..498
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            499..570
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            571..684
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            685..782
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            783..927
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            928..991
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1180
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1317
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1470
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1512
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1708
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1684..1689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="hexamer: AGTAAA"
     polyA_site      1708
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="major polyA site"
ORIGIN      
        1 ctttctctcc tgctctcgcg gcgggaacgc ggggcctccg tgttctgctg tcttcatcag
       61 cgtgggccgc gggccatcat gaggaagcca cgagcagccg tgggaagtgg tcacaggaag
      121 caggcagcca gccaggaagg gaggcagaag catgctaaga acaacagtca ggccaagcct
      181 tctgcctgtg atggcctggc caggcagccg gaagaggtgg tattgcaggc ctctgtctcc
      241 tcataccatc tattcagaga cgtagctgaa gtcacagcct tccgagggag cctgctaagc
      301 tggtacgacc aagagaaacg ggacctacca tggagaagac gggcagaaga tgagatggac
      361 ctggacaggc gggcatatgc tgtgtgggtc tcagaggtca tgctgcagca gacccaggtt
      421 gccactgtga tcaactacta taccggatgg atgcagaagt ggcctacact gcaggacctg
      481 gccagtgctt ccctggagga ggtgaatcaa ctctgggctg gcctgggcta ctattctcgt
      541 ggccggcggc tgcaggaggg agctcggaag gtggtagagg agctaggggg ccacatgcca
      601 cgtacagcag agaccctgca gcagctcctg cctggcgtgg ggcgctacac agctggggcc
      661 attgcctcta tcgcctttgg ccaggcaacc ggtgtggtgg atggcaacgt agcacgggtg
      721 ctgtgccgtg tccgagccat tggtgctgat cccagcagca cccttgtttc ccagcagctc
      781 tggggtctag cccagcagct ggtggaccca gcccggccag gagatttcaa ccaagcagcc
      841 atggagctag gggccacagt gtgtacccca cagcgcccac tgtgcagcca gtgccctgtg
      901 gagagcctgt gccgggcacg ccagagagtg gagcaggaac agctcttagc ctcagggagc
      961 ctgtcgggca gtcctgacgt ggaggagtgt gctcccaaca ctggacagtg ccacctgtgc
     1021 ctgcctccct cggagccctg ggaccagacc ctgggagtgg tcaacttccc cagaaaggcc
     1081 agccgcaagc cccccaggga ggagagctct gccacctgtg ttctggaaca gcctggggcc
     1141 cttggggccc aaattctgct ggtgcagagg cccaactcag gtctgctggc aggactgtgg
     1201 gagttcccgt ccgtgacctg ggagccctca gagcagcttc agcgcaaggc cctgctgcag
     1261 gaactacagc gttgggctgg gcccctccca gccacgcacc tccggcacct tggggaggtt
     1321 gtccacacct tctctcacat caagctgaca tatcaagtat atgggctggc cttggaaggg
     1381 cagaccccag tgaccaccgt accaccaggt gctcgctggc tgacgcagga ggaatttcac
     1441 accgcagctg tttccaccgc catgaaaaag gttttccgtg tgtatcaggg ccaacagcca
     1501 gggacctgta tgggttccaa aaggtcccag gtgtcctctc cgtgcagtcg gaaaaagccc
     1561 cgcatgggcc agcaagtcct ggataatttc tttcggtctc acatctccac tgatgcacac
     1621 agcctcaaca gtgcagccca gtgacacctc tgaaagcccc cattccctga gaatcctgtt
     1681 gttagtaaag tgcttatttt tgtagtta
//
