LOCUS       NM_003491               1603 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens N-alpha-acetyltransferase 10, NatA catalytic subunit
            (NAA10), transcript variant 1, mRNA.
ACCESSION   NM_003491
VERSION     NM_003491.4
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 1603)
  AUTHORS   Duong,N.X., Nguyen,T., Le,M.K., Sawada,N., Kira,S., Kondo,T.,
            Inukai,T. and Mitsui,T.
  TITLE     NAA10 gene expression is associated with mesenchymal transition,
            dedifferentiation, and progression of clear cell renal cell
            carcinoma
  JOURNAL   Pathol Res Pract 255, 155191 (2024)
   PUBMED   38340582
  REMARK    GeneRIF: NAA10 gene expression is associated with mesenchymal
            transition, dedifferentiation, and progression of clear cell renal
            cell carcinoma.
REFERENCE   2  (bases 1 to 1603)
  AUTHORS   Belbachir,N., Wu,Y., Shen,M., Zhang,S.L., Zhang,J.Z., Liu,C.,
            Knollmann,B.C., Lyon,G.J., Ma,N. and Wu,J.C.
  TITLE     Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using
            Patient-Derived Induced Pluripotent Stem Cells
  JOURNAL   Circulation 148 (20), 1598-1601 (2023)
   PUBMED   37956223
  REMARK    GeneRIF: Studying Long QT Syndrome Caused by NAA10 Genetic Variants
            Using Patient-Derived Induced Pluripotent Stem Cells.
REFERENCE   3  (bases 1 to 1603)
  AUTHORS   Lyon,G.J., Vedaie,M., Beisheim,T., Park,A., Marchi,E., Gottlieb,L.,
            Hsieh,T.C., Klinkhammer,H., Sandomirsky,K., Cheng,H., Starr,L.J.,
            Preddy,I., Tseng,M., Li,Q., Hu,Y., Wang,K., Carvalho,A.,
            Martinez,F., Caro-Llopis,A., Gavin,M., Amble,K., Krawitz,P.,
            Marmorstein,R. and Herr-Israel,E.
  TITLE     Expanding the phenotypic spectrum of NAA10-related
            neurodevelopmental syndrome and NAA15-related neurodevelopmental
            syndrome
  JOURNAL   Eur J Hum Genet 31 (7), 824-833 (2023)
   PUBMED   37130971
  REMARK    GeneRIF: Expanding the phenotypic spectrum of NAA10-related
            neurodevelopmental syndrome and NAA15-related neurodevelopmental
            syndrome.
REFERENCE   4  (bases 1 to 1603)
  AUTHORS   Le,M.K., Vuong,H.G., Nguyen,T.T.T. and Kondo,T.
  TITLE     NAA10 overexpression dictates distinct epigenetic, genetic, and
            clinicopathological characteristics in adult gliomas
  JOURNAL   J Neuropathol Exp Neurol 82 (7), 650-658 (2023)
   PUBMED   37253389
  REMARK    GeneRIF: NAA10 overexpression dictates distinct epigenetic,
            genetic, and clinicopathological characteristics in adult gliomas.
REFERENCE   5  (bases 1 to 1603)
  AUTHORS   Sugiura,N., Adams,S.M. and Corriveau,R.A.
  TITLE     An evolutionarily conserved N-terminal acetyltransferase complex
            associated with neuronal development
  JOURNAL   J Biol Chem 278 (41), 40113-40120 (2003)
   PUBMED   12888564
REFERENCE   6  (bases 1 to 1603)
  AUTHORS   Jeong,J.W., Bae,M.K., Ahn,M.Y., Kim,S.H., Sohn,T.K., Bae,M.H.,
            Yoo,M.A., Song,E.J., Lee,K.J. and Kim,K.W.
  TITLE     Regulation and destabilization of HIF-1alpha by ARD1-mediated
            acetylation
  JOURNAL   Cell 111 (5), 709-720 (2002)
   PUBMED   12464182
  REMARK    GeneRIF: ARD1-mediated acetylation regulates and destabilizes HIF-1
            alpha by directly binding to it.
REFERENCE   7  (bases 1 to 1603)
  AUTHORS   Sekine,A., Saito,S., Iida,A., Mitsunobu,Y., Higuchi,S., Harigae,S.
            and Nakamura,Y.
  TITLE     Identification of single-nucleotide polymorphisms (SNPs) of human
            N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the
            Japanese population
  JOURNAL   J Hum Genet 46 (6), 314-319 (2001)
   PUBMED   11393533
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1603)
  AUTHORS   Tribioli,C., Mancini,M., Plassart,E., Bione,S., Rivella,S.,
            Sala,C., Torri,G. and Toniolo,D.
  TITLE     Isolation of new genes in distal Xq28: transcriptional map and
            identification of a human homologue of the ARD1 N-acetyl
            transferase of Saccharomyces cerevisiae
  JOURNAL   Hum Mol Genet 3 (7), 1061-1067 (1994)
   PUBMED   7981673
REFERENCE   9  (bases 1 to 1603)
  AUTHORS   Ng,D.
  TITLE     Lenz Microphthalmia Syndrome - 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   20301694
REFERENCE   10 (bases 1 to 1603)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - 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   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR979270.1, BC000308.2,
            CA313208.1 and U52112.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 25, 2018 this sequence version replaced NM_003491.3.
            
            Summary: N-alpha-acetylation is among the most common
            post-translational protein modifications in eukaryotic cells. This
            process involves the transfer of an acetyl group from
            acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide
            and is essential for normal cell function. This gene encodes an
            N-terminal acetyltransferase that functions as the catalytic
            subunit of the major amino-terminal acetyltransferase A complex.
            Mutations in this gene are the cause of Ogden syndrome. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2012].
            
            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 :: SRR1163658.30048.1, ERR279872.1983.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000464845.6/ ENSP00000417763.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                CR979270.1         118-139
            23-887              BC000308.2         1-865
            888-1001            CA313208.1         19-132              c
            1002-1603           U52112.2           82161-82762         c
FEATURES             Location/Qualifiers
     source          1..1603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1603
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /note="N-alpha-acetyltransferase 10, NatA catalytic
                     subunit"
                     /db_xref="GeneID:8260"
                     /db_xref="HGNC:HGNC:18704"
                     /db_xref="MIM:300013"
     exon            1..154
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..841
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /EC_number="2.3.1.255"
                     /note="isoform 1 is encoded by transcript variant 1;
                     N-acetyltransferase ARD1, human homolog of; microphthalmia
                     or anophthalmia and associated anomalies; N-terminal
                     acetyltransferase complex ARD1 subunit homolog A; ARD1
                     homolog A, N-acetyltransferase; natA catalytic subunit
                     Naa10; arrest defective protein 1"
                     /codon_start=1
                     /product="N-alpha-acetyltransferase 10 isoform 1"
                     /protein_id="NP_003482.1"
                     /db_xref="CCDS:CCDS14737.1"
                     /db_xref="GeneID:8260"
                     /db_xref="HGNC:HGNC:18704"
                     /db_xref="MIM:300013"
                     /translation="MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYI
                     AEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRSHRRLGLAQKLMDQASRAMIENF
                     NAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
                     HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSET
                     TESTDVKDSSEASDSAS"
     exon            155..253
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            254..312
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            313..358
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            359..474
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            475..519
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            520..604
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     exon            605..1603
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      880..885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /note="hexamer: AATAAA"
     polyA_site      904
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /note="major polyA site"
     regulatory      1477..1482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
                     /note="hexamer: AATAAT"
     polyA_site      1518
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
     polyA_site      1603
                     /gene="NAA10"
                     /gene_synonym="ARD1; ARD1A; ARD1P; DXS707; hARD1; LZMS;
                     MAA; MCOPS1; NATD; OGDNS; TE2"
ORIGIN      
        1 accgcccctt ccgccgtcgc ccagcgagcc cagctccggt cccagccccg gccgtcccgg
       61 cgtcgcttcg gagcgcggcg gcagctgact gcgccttcac gatccgctgg gacccgcgag
      121 ccccgccgcc gttatgaaca tccgcaatgc gaggccagag gacctaatga acatgcagca
      181 ctgcaacctc ctctgcctgc ccgagaacta ccagatgaaa tactacttct accatggcct
      241 ttcctggccc cagctctctt acattgctga ggacgagaat gggaagattg tggggtatgt
      301 cctggccaaa atggaagagg acccagatga tgtgccccat ggacatatca cctcattggc
      361 tgtgaagcgt tcccaccggc gcctcggtct ggctcagaaa ctgatggacc aggcctctcg
      421 agccatgata gagaacttca atgccaaata tgtctccctg catgtcagga agagtaaccg
      481 ggccgccctg cacctctatt ccaacaccct caactttcag atcagtgaag tggagcccaa
      541 atactatgca gatggggagg acgcctatgc catgaagcgg gacctcactc agatggccga
      601 cgagctgagg cggcacctgg agctgaaaga gaagggcagg cacgtggtgc tgggtgccat
      661 cgagaacaag gtggagagca aaggcaattc acctccgagc tcaggagagg cctgtcgcga
      721 ggagaagggc ctggctgccg aggatagtgg tggggacagc aaggacctca gcgaggtcag
      781 cgagaccaca gagagcacag atgtcaagga cagctcagag gcctccgact cagcctccta
      841 gagcctgccc catcccctcc tcaccccacg agctttcaca ataaattcgc tccgtggcac
      901 tggggaactt tgtgtgtgag cgcgcgcaca tttagagggt gtgtttctcc aggtcctctg
      961 gtggggatgt gagccttggc cttttgaccc agagcatcct gccaggcccg agtacaagga
     1021 aagagctttg gaggtgggac tccctagtct catgaccttc agcagctgtg gccccgggga
     1081 aggaggccct ggacttatgg gagagaccct gccttggagg tctgcttggc cacgctgaat
     1141 gtgttttgtg gcacaagccg gggctgctca ggctcaaagc tcaacagcag ggctcccact
     1201 cttggtggcc ttcagttctc ttcccacctt caccttcaga ctttctctcc ctaatcacac
     1261 ctgcttcggg ctacagcagc tccccagcat acccgtgggc tccagatgtg gacatccaac
     1321 tgctcattgg gcttatctac aaatgtcctg tctgagtaat gacccagcca gatgccccat
     1381 caacagtcct tgagtcctcc ctcccctgcc accctaatgg tcagtgagtc catgatacct
     1441 cttgagtcta ctccctaacc tgagtttgca tttgaaaata atttattttt agtacaattc
     1501 cccgcgtttc cccattgaca ttttgtatta gttggtgtat ttgttattgt tgatgcgcca
     1561 atactgataa gttattgtaa actacagccc atggtttaca gta
//
