LOCUS       NM_001088                971 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript
            variant 2, mRNA.
ACCESSION   NM_001088
VERSION     NM_001088.3
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 971)
  AUTHORS   Abd Al-Jabar,W.A. and Al-Thuwaini,T.M.
  TITLE     Variation in the AA-NAT gene G203A is associated with Awassi and
            Hamdani sheep fertility
  JOURNAL   Anim Biotechnol 35 (1), 2352771 (2024)
   PUBMED   38753969
  REMARK    GeneRIF: Variation in the AA-NAT gene G203A is associated with
            Awassi and Hamdani sheep fertility.
REFERENCE   2  (bases 1 to 971)
  AUTHORS   Huang,Y.S., Lo,C.H., Tsai,P.H., Hou,Y.C., Chang,Y.T., Guo,C.Y.,
            Hsieh,H.Y., Lu,K.C., Shih,H.M. and Wu,C.C.
  TITLE     Downregulation of AANAT by c-Fos in tubular epithelial cells with
            membranous nephropathy
  JOURNAL   Biochem Biophys Res Commun 584, 32-38 (2021)
   PUBMED   34763165
  REMARK    GeneRIF: Downregulation of AANAT by c-Fos in tubular epithelial
            cells with membranous nephropathy.
REFERENCE   3  (bases 1 to 971)
  AUTHORS   Moskaleva,P.V., Shnayder,N.A. and Nasyrova,R.F.
  TITLE     [Association of polymorphic variants of DDC (AADC), AANAT and ASMT
            genes encoding enzymes for melatonin synthesis with the higher risk
            of neuropsychiatric disorders]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 121 (5), 151-157 (2021)
   PUBMED   34184492
  REMARK    GeneRIF: [Association of polymorphic variants of DDC (AADC), AANAT
            and ASMT genes encoding enzymes for melatonin synthesis with the
            higher risk of neuropsychiatric disorders].', trans 'Assotsiatsiya
            polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh
            fermenty sinteza melatonina, s riskom razvitiya
            psikhonevrologicheskikh rasstroistv.
            Review article
REFERENCE   4  (bases 1 to 971)
  AUTHORS   Hohjoh,H., Takasu,M., Shishikura,K., Takahashi,Y., Honda,Y. and
            Tokunaga,K.
  TITLE     Significant association of the arylalkylamine N-acetyltransferase
            (AA-NAT) gene with delayed sleep phase syndrome
  JOURNAL   Neurogenetics 4 (3), 151-153 (2003)
   PUBMED   12736803
  REMARK    GeneRIF: There is a significant increase in AANAT allele positivity
            at the single nucleotide polymorphism (alanine 129--> threonine) at
            between patients with DSPS & controls.  AA-NAT could be a
            susceptibility gene for DSPS.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 971)
  AUTHORS   Coon,S.L., Weller,J.L., Korf,H.W., Namboodiri,M.A., Rollag,M. and
            Klein,D.C.
  TITLE     cAmp regulation of arylalkylamine N-acetyltransferase (AANAT, EC
            2.3.1.87): a new cell line (1E7) provides evidence of intracellular
            AANAT activation
  JOURNAL   J Biol Chem 276 (26), 24097-24107 (2001)
   PUBMED   11313340
REFERENCE   6  (bases 1 to 971)
  AUTHORS   Obsil,T., Ghirlando,R., Klein,D.C., Ganguly,S. and Dyda,F.
  TITLE     Crystal structure of the 14-3-3zeta:serotonin N-acetyltransferase
            complex. a role for scaffolding in enzyme regulation
  JOURNAL   Cell 105 (2), 257-267 (2001)
   PUBMED   11336675
REFERENCE   7  (bases 1 to 971)
  AUTHORS   Klein,D.C., Coon,S.L., Roseboom,P.H., Weller,J.L., Bernard,M.,
            Gastel,J.A., Zatz,M., Iuvone,P.M., Rodriguez,I.R., Begay,V.,
            Falcon,J., Cahill,G.M., Cassone,V.M. and Baler,R.
  TITLE     The melatonin rhythm-generating enzyme: molecular regulation of
            serotonin N-acetyltransferase in the pineal gland
  JOURNAL   Recent Prog Horm Res 52, 307-57 (1997)
   PUBMED   9238858
  REMARK    Review article
REFERENCE   8  (bases 1 to 971)
  AUTHORS   Coon,S.L., Mazuruk,K., Bernard,M., Roseboom,P.H., Klein,D.C. and
            Rodriguez,I.R.
  TITLE     The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT):
            structure, chromosomal localization, and tissue expression
  JOURNAL   Genomics 34 (1), 76-84 (1996)
   PUBMED   8661026
REFERENCE   9  (bases 1 to 971)
  AUTHORS   Coon,S.L., Roseboom,P.H., Baler,R., Weller,J.L., Namboodiri,M.A.,
            Koonin,E.V. and Klein,D.C.
  TITLE     Pineal serotonin N-acetyltransferase: expression cloning and
            molecular analysis
  JOURNAL   Science 270 (5242), 1681-1683 (1995)
   PUBMED   7502081
REFERENCE   10 (bases 1 to 971)
  AUTHORS   Smith,T.J.
  TITLE     Phylogenetic distribution and function of arylalkylamine
            N-acetyltransferase
  JOURNAL   Bioessays 12 (1), 30-33 (1990)
   PUBMED   2181999
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA084486.1, U40347.1 and
            BC092430.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001088.2.
            
            Summary: The protein encoded by this gene belongs to the
            acetyltransferase superfamily. It is the penultimate enzyme in
            melatonin synthesis and controls the night/day rhythm in melatonin
            production in the vertebrate pineal gland. Melatonin is essential
            for the function of the circadian clock that influences activity
            and sleep. This enzyme is regulated by cAMP-dependent
            phosphorylation that promotes its interaction with 14-3-3 proteins
            and thus protects the enzyme against proteasomal degradation. This
            gene may contribute to numerous genetic diseases such as delayed
            sleep phase syndrome. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) is shorter than 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 :: U40347.1, AB593119.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392492.8/ ENSP00000376282.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                AA084486.1         56-132
            78-896              U40347.1           112-930
            897-971             BC092430.1         1839-1913
FEATURES             Location/Qualifiers
     source          1..971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..971
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /note="aralkylamine N-acetyltransferase"
                     /db_xref="GeneID:15"
                     /db_xref="HGNC:HGNC:19"
                     /db_xref="MIM:600950"
     exon            1..125
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /inference="alignment:Splign:2.1.0"
     exon            126..363
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             201..824
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /EC_number="2.3.1.87"
                     /note="isoform 2 is encoded by transcript variant 2;
                     arylalkylamine N-acetyltransferase; serotonin acetylase"
                     /codon_start=1
                     /product="serotonin N-acetyltransferase isoform 2"
                     /protein_id="NP_001079.1"
                     /db_xref="CCDS:CCDS11745.1"
                     /db_xref="GeneID:15"
                     /db_xref="HGNC:HGNC:19"
                     /db_xref="MIM:600950"
                     /translation="MSTQSTHPLKPEAPRLPPGIPESPSCQRRHTLPASEFRCLTPED
                     AVSAFEIEREAFISVLGVCPLYLDEIRHFLTLCPELSLGWFEEGCLVAFIIGSLWDKE
                     RLMQESLTLHRSGGHIAHLHVLAVHRAFRQQGRGPILLWRYLHHLGSQPAVRRAALMC
                     EDALVPFYERFSFHAVGPCAITVGSLTFMELHCSLRGHPFLRRNSGC"
     exon            364..518
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /inference="alignment:Splign:2.1.0"
     exon            519..971
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      936..941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /note="hexamer: AATAAA"
     polyA_site      971
                     /gene="AANAT"
                     /gene_synonym="DSPS; SNAT"
                     /note="major polyA site"
ORIGIN      
        1 gaacatctgc tactacagcc ttgcagcccg gagtcccgga ttttactggt tcccgtgcct
       61 gcggacaggc ccccagggct agcggctttg tggagggaac actgggtatc ctctccacag
      121 tccaggtgct gggaggccct ccttggctta ggaggacact tccaaagctg gggcgcccca
      181 aggaggcacc agtggccaga atgtccacgc agagcaccca ccccctgaaa cctgaggccc
      241 cacgtctgcc acctgggatc cccgagtccc cgagctgtca gcggcgccac acactccctg
      301 ccagtgagtt tcgctgcctc accccggagg acgctgtcag cgcctttgag atcgagcgtg
      361 aagccttcat ctccgtcttg ggcgtctgcc ccctgtacct ggatgagatc cggcacttcc
      421 tgaccctatg tccagagctg tccctgggct ggttcgagga gggctgcctt gtggccttca
      481 tcatcggctc gctctgggac aaggagagac tcatgcagga gtcactgacg ctgcacaggt
      541 ctgggggcca catagcccac ctgcatgtgc tggccgtgca ccgcgccttc cggcagcagg
      601 gcaggggccc catcctgctg tggcgctacc tgcaccacct gggcagccag ccggccgtgc
      661 gccgggccgc gctcatgtgc gaggacgcgc tggtaccctt ctatgagagg ttcagcttcc
      721 acgccgtggg cccctgcgcc atcaccgtgg gctccctcac cttcatggag ctccactgct
      781 ccctgcgggg ccaccccttc ctgcgcagga acagcggctg ctgaactggg ctgcccacct
      841 ggctgccaac atgatccccg tctctgccct gggctcctct tagctcagct gagcatggag
      901 acagcagttt ccagagagtg gagagagcag ggctaaataa agaggagata aggtggcttc
      961 tcacggcctg a
//
